Rheumatology Department

What our rheumatology unit covers — and who it is for

Rheumatology is the medical care of the immune-mediated and inflammatory diseases of the joints, muscles, bones and blood vessels — and of the connective tissue diseases that affect several organs at once. It is a diagnostic specialty above all. Many of these conditions present with symptoms that a dozen other things also produce, and the work is separating an inflammatory disease from a mechanical, infectious or functional one.

At Acıbadem International the work is organised into five strands.

• Inflammatory arthritis — rheumatoid arthritis, psoriatic arthritis, axial spondyloarthritis and reactive arthritis, where early treatment changes the outcome most.
• Connective tissue disease — lupus, scleroderma, Sjögren’s, myositis and the overlap syndromes, which involve organs beyond the joints and are managed with the specialties they affect.
• Vasculitis — inflammation of blood vessels, from giant cell arteritis to the ANCA-associated diseases, several of which are emergencies.
• Crystal and metabolic bone disease — gout, calcium pyrophosphate disease and osteoporosis.
• Autoinflammatory disease — familial Mediterranean fever and the related periodic fever syndromes, which are common in this region and frequently diagnosed late elsewhere.

Two borders are worth stating. Joint pain from wear, injury or mechanical derangement is orthopaedic — see orthopedics — and osteoarthritis is managed jointly. Rehabilitation, exercise therapy and the functional work that determines how much of a treatment’s benefit is realised belongs with physical medicine and rehabilitation.

What a rheumatologist actually does

A rheumatologist is a physician who diagnoses and treats immune-mediated disease of the musculoskeletal system and connective tissue. People are usually referred for one of three things: a joint that is swollen rather than simply painful, an abnormal immune blood test, or a collection of symptoms across several systems that nobody has been able to tie together.

The consultation is mostly history and examination, and that is not a preliminary to the tests — it is the diagnostic instrument. Blood tests in this specialty are supporting evidence, and used alone they mislead in both directions: a positive antinuclear antibody in a well person usually means nothing, and a negative rheumatoid factor does not exclude rheumatoid arthritis. What the examination is looking for is synovitis, the boggy swelling of an inflamed joint lining, which is what separates inflammatory disease from everything else.

Three things follow that people rarely expect. Time is a genuine diagnostic tool — some of these diseases only become recognisable over months, and a rheumatologist saying “I do not yet know, and we will look again” is doing the job rather than avoiding it. Treatment is frequently started before a label is final, because in inflammatory arthritis the damage happens early. And much of the work is long-term monitoring of drugs rather than of disease, because the medicines used here require it.

Inflammatory arthritis: how it differs from mechanical joint pain

Inflammatory arthritis is joint pain caused by the immune system attacking the joint lining, and distinguishing it from mechanical pain is the single most useful thing a non-specialist can do — because the two are treated in opposite ways and one of them causes permanent damage if it is missed.

The distinction is made on pattern rather than severity, and the pattern is reliable:

• Inflammatory: worse after rest and better with movement; prolonged stiffness in the morning; visible swelling of the joint itself; often several joints, often symmetrically; frequently with fatigue and a general sense of being unwell; and it responds to anti-inflammatory treatment.
• Mechanical: worse with use and better with rest; brief stiffness after inactivity; swelling that is bony rather than boggy; often one joint or a few, related to a previous injury or to load; and no systemic symptoms.

Swelling matters more than pain in this assessment. A joint that hurts a great deal may be mechanical; a joint that is visibly swollen and warm is inflammatory until shown otherwise. That single observation is why examination outperforms blood tests here.

Morning stiffness: why the duration is the question

Morning stiffness is asked about in every rheumatology consultation, and what is being measured is not whether it exists but how long it lasts. Nearly everyone is stiff for a few minutes on waking. Stiffness that persists for more than about half an hour, and often for hours, is characteristic of inflammatory disease — it reflects fluid and inflammatory cells accumulating in the joint overnight and taking time to disperse with movement.

The other half of the pattern is what happens with activity. Inflammatory stiffness eases as the joint is used and returns after sitting still — the classic complaint of seizing up after a long car journey or a film. Mechanical stiffness does the opposite: brief on starting, then worse the more the joint is used through the day. Reporting the duration accurately, in minutes, is more useful to a rheumatologist than describing the severity.

Inflammatory back pain

Inflammatory back pain is the presentation that is missed most often and for longest, and the delay in diagnosing axial spondyloarthritis is measured in years in most health systems. The reason is that back pain is overwhelmingly mechanical, so an inflammatory cause is not considered.

The features that should raise it are specific and easy to check: onset before the age of forty-five; gradual rather than sudden onset; persistence for more than three months; improvement with exercise but not with rest; pain that wakes the person in the second half of the night and improves on getting up and moving; and alternating buttock pain. Add to that a personal or family history of psoriasis, inflammatory bowel disease or uveitis.

Someone under forty-five with back pain that wakes them at night and improves with movement, who has been treated for years as a mechanical problem, is the classic missed diagnosis in this specialty — and it matters because effective treatment exists and because the structural changes it prevents do not reverse.

Osteoarthritis vs rheumatoid arthritis

These two are confused constantly, including in clinics, and the difference is not one of degree. They are entirely different diseases that happen to affect joints.

Osteoarthritis is the loss of cartilage with associated changes in the underlying bone. It is driven by load, injury, age, genetics and weight rather than by the immune system. It affects the joints that carry or are used most — knees, hips, the base of the thumb, the small joints at the ends of the fingers, the spine — usually asymmetrically. Pain is worse with use, stiffness is brief, the swelling is hard and bony, and there is no systemic illness. It is managed with exercise, weight, analgesia, injections and ultimately joint replacement with orthopedics.

Rheumatoid arthritis is an autoimmune disease in which the immune system attacks the synovium. It typically affects the small joints of the hands and feet symmetrically — characteristically the knuckles and the middle joints of the fingers, and characteristically sparing the joints at the very ends, which is the opposite of osteoarthritis. There is prolonged morning stiffness, soft warm swelling, fatigue, and often effects outside the joints. It is treated with drugs that suppress the immune system, and untreated it destroys joints.

One practical marker: if the joints at the ends of the fingers are the swollen ones, that is far more likely to be osteoarthritis or psoriatic arthritis than rheumatoid arthritis. And the two can coexist, which is why a new inflammatory pattern in someone with known osteoarthritis is assessed rather than attributed.

Rheumatoid arthritis

Rheumatoid arthritis is a chronic autoimmune disease in which the immune system attacks the synovial lining of joints, producing inflammation that, left untreated, erodes cartilage and bone. It affects around one in a hundred people, is more common in women, and can begin at any age.

The single most important thing about it is time. There is a window early in the disease during which treatment substantially alters the long-term outcome, and joint damage that occurs before treatment starts does not reverse. That is why suspected inflammatory arthritis is referred urgently rather than trialled on painkillers, and why treatment is often begun before every test has returned.

Rheumatoid arthritis symptoms

Rheumatoid arthritis symptoms follow a recognisable pattern, and it is the pattern rather than any single feature that makes the diagnosis.

In the joints: symmetrical swelling and pain in the small joints of the hands and feet — the knuckles, the middle finger joints and the joints at the base of the toes — with morning stiffness lasting well over half an hour, and difficulty making a fist or gripping. Squeezing across the knuckles or across the base of the toes produces pain, which is a simple examination finding that separates this from most other things. Larger joints follow later.

Outside the joints, and often underestimated: profound fatigue that is out of proportion to the joint symptoms and is frequently the complaint patients rate as worst; low-grade fever and weight loss; dry eyes and mouth; nodules over pressure points; and, less commonly, inflammation of the lung lining or the lung tissue itself, of the eye, and of blood vessels. Rheumatoid arthritis also raises cardiovascular risk independently, which is why blood pressure, lipids and smoking are addressed as part of the treatment rather than separately.

What should prompt urgent assessment: swelling of several small joints lasting more than a few weeks, with prolonged morning stiffness, particularly with a positive family history. Early referral is the intervention with the largest effect on the outcome of this disease.

Rheumatoid arthritis treatment

Rheumatoid arthritis treatment is built on a strategy rather than a drug, and the strategy is treat-to-target: a level of disease activity is defined as the goal, activity is measured at regular intervals with a composite score, and treatment is escalated until the target is reached rather than settled for when the patient feels somewhat better. That approach, more than any individual medicine, is what changed the outlook for this disease.

The sequence is conventional. A conventional disease-modifying drug first, usually methotrexate, often with a short course of steroid to control symptoms while it takes effect — these drugs work over weeks to months, not days, which is the commonest source of early disappointment. If the target is not reached, a biological or targeted synthetic drug is added or substituted. Anti-inflammatory painkillers treat symptoms and do nothing to the disease, so they are never the treatment on their own.

Two things belong alongside. Steroids are used deliberately as a bridge and are reduced as the disease-modifying drug takes hold, because long-term steroid carries a heavy cumulative cost. And the non-drug parts — exercise, hand therapy, smoking cessation, cardiovascular risk management — are not decoration; smoking in particular worsens the disease and reduces the response to treatment. Every dose, escalation and change belongs to the treating rheumatologist.

Seronegative arthritis

Seronegative arthritis means inflammatory arthritis with negative rheumatoid factor and anti-CCP antibodies, and the term causes a great deal of unnecessary reassurance. A substantial minority of people with genuine rheumatoid arthritis are seronegative, and they need the same urgent treatment as anyone else — the antibodies are supporting evidence, not the diagnosis.

The term also covers a distinct family of diseases, the seronegative spondyloarthropathies: axial spondyloarthritis, psoriatic arthritis, reactive arthritis and the arthritis of inflammatory bowel disease. These share a tendency to affect the spine and the entheses, to occur asymmetrically and in the lower limbs, and to associate with HLA-B27, psoriasis, uveitis and bowel inflammation rather than with rheumatoid antibodies. Being told a test is negative is not being told nothing is wrong, and that is the practical point of this section.

The blood tests, and what each one actually means

No blood test diagnoses a rheumatic disease on its own. Each shifts a probability, and each is misread routinely — which is why this section explains what a result does and does not tell you.

Rheumatoid factor

Rheumatoid factor is an antibody directed against part of another antibody. Its problem is that it is neither sensitive nor specific: a meaningful proportion of people with rheumatoid arthritis do not have it, and it is found in healthy people — increasingly with age — and in hepatitis C, Sjögren’s syndrome, chronic infection and other conditions. A positive rheumatoid factor in someone with no joint swelling is usually of no consequence, and a negative one in someone with swollen symmetrical small joints does not exclude the disease.

Anti-CCP and the anti-CCP test

Anti-CCP — antibody to cyclic citrullinated peptide, sometimes reported as ACPA — is the more useful of the two. It is considerably more specific for rheumatoid arthritis than rheumatoid factor, so a positive result in someone with joint symptoms carries real weight. It also appears years before symptoms in some people and predicts more aggressive, erosive disease, which influences how quickly and how hard treatment is escalated. Its sensitivity is similar to rheumatoid factor, so a negative anti-CCP test does not exclude anything.

ANA test and antinuclear antibody

The ANA test detects antinuclear antibody — antibodies against components of the cell nucleus — and it is the most over-requested and most misinterpreted test in this specialty. A low-titre positive ANA is present in a substantial proportion of entirely healthy people, more often in women and with increasing age, and its frequency in the general population far exceeds the frequency of the diseases it is used to look for.

What that means practically is that a positive ANA in someone without symptoms suggesting connective tissue disease is usually a false alarm, and pursuing it generates anxiety and further tests rather than answers. What matters is the titre, the staining pattern, and above all whether the specific antibodies that follow it — anti-dsDNA, anti-Sm, anti-Ro, anti-La, anti-Scl-70, anti-centromere, anti-Jo-1 — are present, because those are what point to a particular disease. The test earns its place when it is ordered because the clinical picture already suggests lupus or a related disease, and it causes harm when it is ordered as a screen for tiredness.

HLA-B27

HLA-B27 is a genetic marker, not a disease test, and it is best understood as a risk factor. It is present in a percentage of the healthy population that far exceeds the number who will ever develop spondyloarthritis, so a positive result in someone with mechanical back pain means very little. Its value is in the right context: in a young person with inflammatory back pain, a positive result substantially raises the probability of axial spondyloarthritis and contributes to the classification criteria. A negative result does not exclude it, since a proportion of patients are negative.

ESR and CRP: measuring inflammation

These measure inflammation generally, not any particular disease. CRP rises and falls quickly and reflects what is happening now; ESR moves more slowly and is influenced by age, anaemia, pregnancy and other proteins in the blood. Both are used to support a suspicion and to follow the response to treatment.

Two cautions. Normal inflammatory markers do not exclude inflammatory disease — many people with active rheumatoid arthritis, and a majority with axial spondyloarthritis, have normal ESR and CRP. And a raised marker on its own is not a diagnosis: infection, malignancy and a great many other things raise it. Very high values in an older person with headache, jaw pain or visual symptoms, however, point somewhere specific and urgent — see giant cell arteritis.

Musculoskeletal ultrasound, joint injection and synovial fluid analysis

Musculoskeletal ultrasound has changed rheumatology practice more than any single blood test. It detects synovitis that the examining hand cannot feel, distinguishes joint inflammation from swelling of the surrounding tissues, shows erosions earlier than X-ray, and demonstrates enthesitis — and it does so in the clinic room, in real time, with the patient present. Power Doppler shows the increased blood flow of active inflammation, which separates active disease from old damage.

The same equipment guides a joint injection, since injecting under ultrasound reaches the target far more reliably than injecting by landmark alone. Where a joint is swollen and the cause is uncertain, aspirating it settles the question. Synovial fluid analysis answers three things at once: is it infected, which is the emergency that must be excluded first; are there crystals, which diagnoses gout or calcium pyrophosphate disease definitively; and is the fluid inflammatory or not. A hot swollen joint is aspirated rather than assumed to be a flare of known disease, because septic arthritis and gout look identical from the outside.

DMARDs: the drugs that change the disease

A DMARD — disease-modifying antirheumatic drug — suppresses the immune process rather than the symptom. That distinction is the whole of modern rheumatology: painkillers make someone comfortable while their joints are destroyed, and DMARDs prevent the destruction. They work over weeks to months, which is why steroids are often used briefly alongside while they take effect.

Methotrexate is the anchor drug of this specialty. It is taken once a week — never daily, and that error has killed people, which is why the weekly schedule is emphasised at every level of care — with folic acid to reduce side effects. Hydroxychloroquine is the mildest, used in lupus and in milder rheumatoid disease, and requires periodic eye checks because of a small risk of retinal toxicity with long cumulative use. Sulfasalazine and leflunomide are the other conventional options, used alone or in combination.

What they share is a monitoring requirement. Blood counts, liver and kidney function are checked at defined intervals for as long as the drug is taken, because the problems these drugs cause are detectable on a blood test before they are felt. Missing that monitoring is the most common avoidable harm in rheumatology, and it is the reason shared-care arrangements exist with the patient’s own doctor.

Methotrexate side effects, and where hydroxychloroquine, sulfasalazine and leflunomide differ

Methotrexate side effects divide into the common and manageable, and the uncommon and serious — and confusing the two causes people to stop a drug that was working.

Common: nausea and fatigue in the day or two after the dose, mouth ulcers, and hair thinning. Most of these respond to folic acid, to splitting or changing the timing of the dose, or to switching from tablets to a weekly subcutaneous injection, which bypasses the gut and is often much better tolerated. These are worth reporting rather than enduring, because they are usually fixable without abandoning the drug.

Uncommon and serious: suppression of the bone marrow, liver injury, and inflammation of the lung tissue — which is why the blood monitoring exists and why new breathlessness or a persistent dry cough is reported promptly rather than waited out. Infection risk is modestly raised.

Three absolutes belong here and they are not negotiable: it is taken once weekly, on the same day; alcohol is limited because both affect the liver; and it must not be taken during pregnancy or conception by either partner — effective contraception and a planned washout before trying to conceive are part of prescribing it. Interactions matter too, particularly with trimethoprim-containing antibiotics. All of this is managed by the prescribing rheumatologist, and anything bought without prescription is worth mentioning.

Biologics, TNF inhibitors and JAK inhibitors

Biological drugs are proteins targeting a specific molecule or cell in the immune pathway, given by injection or infusion. They are used when conventional DMARDs have not reached the treatment target.

A TNF inhibitor blocks tumour necrosis factor, a central inflammatory signal, and this class transformed rheumatoid arthritis, axial spondyloarthritis and psoriatic arthritis. Other biologics target interleukin-6, interleukin-17, interleukin-23, T-cell activation, or B cells — rituximab depletes B cells and is used in rheumatoid arthritis and in ANCA-associated vasculitis. A JAK inhibitor is not a biologic but a small molecule taken as a tablet, blocking an intracellular signalling pathway, with comparable effectiveness.

What every drug in this group shares is a raised risk of infection, and the specific screening that follows from it: latent tuberculosis and hepatitis B and C are tested for before starting, because these drugs can reactivate them, and vaccination is brought up to date beforehand — live vaccines are generally avoided afterwards. JAK inhibitors carry additional considerations around cardiovascular events, clots and malignancy in older patients and those with risk factors, which is why their use is weighed individually rather than treated as interchangeable with biologics. Which drug, for whom, is a decision made by the rheumatologist against the disease activity and the person’s other conditions.

Axial spondyloarthritis, ankylosing spondylitis and ankylosing spondylitis treatment

Axial spondyloarthritis is inflammatory disease of the spine and sacroiliac joints. Ankylosing spondylitis is the name for the stage at which structural change is visible on plain X-ray; the broader term covers people with the same disease before those changes appear, which is most of the reason diagnosis used to take so long. Recognising the non-radiographic form is what allows treatment to start years earlier.

It presents as inflammatory back pain in a young adult, with alternating buttock pain, night waking, and improvement with movement. Beyond the spine it produces enthesitis, peripheral arthritis, chest wall pain and restricted expansion, and it associates strongly with uveitis, psoriasis and inflammatory bowel disease — which is why a young person with recurrent painful red eye and back pain needs those two facts connected.

Treatment begins with something patients often dismiss: a structured, consistent exercise and posture programme, which has genuine evidence behind it in this disease and is not an adjunct. Anti-inflammatory drugs used regularly are the first-line medication and are more effective here than in most rheumatic disease. Conventional DMARDs do not work for the spinal disease. Where symptoms persist, biologics — TNF, IL-17 and JAK inhibitors — are highly effective. Care is shared with rehabilitation.

Sacroiliitis

Sacroiliitis is inflammation of the joints between the sacrum and the pelvis, and it is the anatomical hallmark of axial spondyloarthritis. It causes deep buttock pain, often alternating sides, worse at rest and at night.

How it is found matters. Plain X-ray shows only established structural change, which takes years to develop — so a normal X-ray in a young person with inflammatory back pain excludes nothing. MRI shows active inflammation as bone marrow oedema at the joint margins, long before anything appears on X-ray, and it is the imaging that makes early diagnosis possible. It is also worth knowing that non-inflammatory changes can mimic it on MRI — in athletes, after pregnancy and with mechanical stress — which is why the scan is read alongside the clinical picture rather than in isolation.

Enthesitis and dactylitis

Enthesitis is inflammation where a tendon or ligament attaches to bone, and it is the characteristic lesion of the spondyloarthritis family — as distinctive to this group as synovitis is to rheumatoid arthritis. The commonest sites are the Achilles insertion and the plantar fascia at the heel, and the point that matters clinically is that persistent heel pain in a young adult, particularly with back pain or psoriasis, is not automatically a sports injury.

Dactylitis is the swelling of an entire finger or toe rather than of individual joints — the sausage digit — caused by inflammation of the joints and the tendon sheath together. It is close to diagnostic of psoriatic arthritis and the related spondyloarthropathies, and it is the sort of finding that settles a diagnosis in one look.

Psoriatic arthritis and psoriatic arthritis treatment

Psoriatic arthritis is inflammatory arthritis occurring with psoriasis, and it affects a substantial minority of people with the skin disease. It is more variable than rheumatoid arthritis and takes several patterns — a few large joints asymmetrically, the small joints of the hands, a spinal pattern, or a predominantly enthesitis pattern — which is part of why it is under-recognised.

Three features distinguish it. It characteristically affects the joints at the very ends of the fingers, which rheumatoid arthritis spares. It produces dactylitis. And it associates strongly with nail changes — pitting, ridging and separation from the nail bed — which is why the nails are examined in anyone with unexplained inflammatory arthritis, and why nail psoriasis in someone with joint symptoms is a meaningful finding.

The skin and the joints do not track together: severe joint disease occurs with trivial skin disease, and the joints can precede the rash entirely. Treatment overlaps with rheumatoid arthritis for the peripheral joints, while spinal and enthesial disease follows the spondyloarthritis logic, and the choice of biologic is influenced by which manifestations dominate. Skin disease is managed with dermatology, and joint symptoms in anyone with psoriasis are worth asking about at every dermatology review.

Reactive arthritis

Reactive arthritis is inflammatory arthritis triggered by an infection elsewhere — typically a gut infection or a sexually transmitted one — appearing days to weeks afterwards. The joint itself is not infected, which is the essential point: it is an immune reaction, and treating it with antibiotics does not resolve the arthritis.

It usually affects a few large joints in the lower limbs asymmetrically, often with enthesitis, and it may be accompanied by inflammation of the eye and of the urethra. It is associated with HLA-B27. Most cases settle over weeks to months with anti-inflammatory treatment, a minority persist and are treated as a chronic spondyloarthritis, and the triggering infection is treated in its own right where it is still present.

Gout

Gout is inflammatory arthritis caused by crystals of monosodium urate forming in a joint when the level of urate in the blood has been high for long enough. It is the commonest inflammatory arthritis in adults, it is completely treatable, and it is treated badly more often than almost any other rheumatic disease — because the attack is treated and the cause is not.

The classical attack is sudden, severe, and reaches maximum intensity within hours, usually overnight, most often in the joint at the base of the big toe, with redness, heat and exquisite tenderness — the weight of a bedsheet is the description patients give. It settles over days to weeks even untreated, which is precisely why people stop there.

The diagnosis is confirmed by finding crystals in aspirated joint fluid. Two cautions matter. Uric acid measured during an attack is frequently normal or low, so a normal level does not exclude gout — it is measured once the attack has settled. And an acutely hot swollen joint may be septic rather than gouty; the two look identical and infection is excluded first.

Gout treatment: colchicine for the attack, allopurinol for the cause

Gout treatment has two halves that are constantly conflated, and separating them is the single most useful thing anyone with gout can understand.

Treating the attack settles the inflammation — with an anti-inflammatory drug, colchicine, or steroid, chosen by the treating doctor according to the person’s kidney function, heart disease and other medicines. It works within days and does nothing whatever to the underlying urate level.

Treating the cause means lowering urate below the level at which crystals form, and keeping it there, with allopurinol or an alternative urate-lowering drug. This is lifelong in most people who need it, it is titrated against blood levels to a target rather than given at a fixed dose, and it is what actually prevents further attacks and dissolves the crystal deposits already present.

Two facts explain most treatment failures. Starting urate-lowering treatment can itself trigger attacks in the first months as deposits mobilise, which is why cover with a low-dose anti-inflammatory or colchicine is given during that period — and why people who were not warned stop the drug, concluding it made things worse. And diet is a much smaller lever than the internet suggests: it is worth addressing alcohol, sugary drinks and fructose, and obesity, but diet alone rarely achieves target, and telling someone their gout is a dietary failure is both wrong and unhelpful. Kidney function drives urate more than food does, which is why kidney disease and gout travel together.

Tophi

Tophi are visible deposits of urate crystals in and around joints, in the ear cartilage, over the elbows and in tendons — the sign that gout has been present and untreated for years. They appear as firm lumps, sometimes with chalky white material visible under thin skin, and they can ulcerate and become infected.

The reason they matter is encouraging: they are reversible. Sustained urate lowering to a target below the saturation point dissolves them over months to years, and the lower the level maintained, the faster they shrink. Their presence is an argument for a more aggressive target rather than an acceptance of damage. They also erode bone, so their presence indicates disease that has been damaging joints, not merely causing episodes of pain.

Pseudogout and calcium pyrophosphate disease

Pseudogout is an acute arthritis caused by calcium pyrophosphate crystals rather than urate. It resembles gout — a sudden hot swollen joint — but tends to affect the knee and wrist rather than the toe, is more common in older people, and shows a characteristic thin line of calcification in the cartilage on X-ray, called chondrocalcinosis.

Aspiration distinguishes the two definitively, because the crystals look different under polarised light, and that distinction changes everything: there is no equivalent of urate-lowering therapy for calcium pyrophosphate, so treatment is directed at the attacks and at any underlying metabolic cause. In younger patients, an underlying condition — haemochromatosis, hyperparathyroidism, low magnesium — is looked for rather than assumed absent.

Lupus (systemic lupus erythematosus)

Systemic lupus erythematosus is an autoimmune disease in which the immune system attacks the body’s own tissues, potentially in any organ. It affects women far more often than men, typically begins between the teens and forties, and is more common and often more severe in some ethnic groups. Its defining feature clinically is variability: two people with lupus can have almost nothing in common.

Lupus symptoms

Lupus symptoms are the reason it is so often diagnosed late, because most of them individually suggest something more ordinary. The combination is what matters.

Common: profound fatigue; joint pain and swelling, typically in the small joints, usually without the erosion of rheumatoid arthritis; a rash across the cheeks and nose sparing the folds beside the nose, and rashes elsewhere brought on by sunlight; hair thinning; painless mouth ulcers; fever without infection; and Raynaud’s phenomenon.

Serious involvement is what governs the treatment and is frequently silent: the kidney, which is why urine is tested at every review — see nephrology for lupus nephritis; the blood, with low counts of white cells, platelets or red cells; the lining of the heart and lung, producing chest pain that is worse on breathing; the nervous system; and the raised clotting risk of antiphospholipid antibodies, which is tested for at diagnosis because it changes management in its own right and matters enormously in pregnancy.

What should prompt assessment is a combination that has persisted: unexplained fatigue with joint pain, a photosensitive rash, mouth ulcers, hair loss, or abnormal blood counts — particularly in a young woman. Lupus is not diagnosed on an ANA result alone; it is diagnosed on the clinical picture with supporting antibodies, and the specific ones — anti-dsDNA and anti-Sm — carry far more weight than a positive ANA does.

Treatment is built on hydroxychloroquine for essentially everyone, because it reduces flares, protects organs and improves survival, with immunosuppression scaled to organ involvement and steroids used as briefly as the disease allows. Sun protection is genuine treatment rather than advice. Pregnancy is planned rather than avoided: outcomes are considerably better when the disease is quiescent and the medicines have been reviewed in advance, which is a conversation to have with obstetrics before conceiving.

Scleroderma and Raynaud’s phenomenon

Scleroderma — systemic sclerosis — is a connective tissue disease combining three processes: thickening and hardening of the skin, damage to small blood vessels, and fibrosis of internal organs. It divides into a limited form, affecting skin below the elbows and knees and the face, and a diffuse form extending above them, which carries a higher risk of early internal organ involvement.

What determines the outcome is not the skin but the organs. Interstitial lung disease and pulmonary hypertension are the leading causes of harm and are screened for actively with lung function testing and echocardiography rather than waited for. Kidney involvement can present as a hypertensive crisis that is treatable if recognised immediately. Oesophageal involvement causes reflux and swallowing difficulty in most patients. Care is genuinely multidisciplinary, with pulmonology, cardiology, nephrology and gastroenterology.

Raynaud’s phenomenon

Raynaud phenomenon is episodic constriction of the small arteries in the fingers and toes on exposure to cold or stress, classically producing a colour sequence — white, then blue, then red on rewarming — with numbness and pain.

The distinction that matters is between primary and secondary. Primary Raynaud’s is common, begins in young people, is symmetrical, causes no tissue damage and requires nothing beyond keeping warm. Secondary Raynaud’s is a sign of an underlying connective tissue disease, most often scleroderma, and the features that suggest it are onset after the age of thirty, asymmetry, severe episodes, ulcers or pitting scars at the fingertips, and abnormal nailfold capillaries seen on microscopy — an examination that takes a minute and is one of the most informative in the specialty. Raynaud’s with abnormal nailfold capillaries and a positive ANA frequently precedes scleroderma by years, which is why it is investigated rather than dismissed.

Mixed connective tissue disease

Mixed connective tissue disease combines features of lupus, scleroderma and myositis in the same person, with a high-titre antibody to U1-RNP that defines it. Swollen fingers, Raynaud’s, arthritis, muscle weakness and inflammatory features appear together or in sequence.

Its practical significance is twofold. It behaves differently from any of its component diseases and is generally more responsive to treatment, so the label is not merely diagnostic uncertainty. And pulmonary hypertension is its most important complication and the leading cause of harm, which is why it is screened for rather than looked for once symptoms appear. Some patients evolve over years toward one defined disease, which is why the diagnosis is reviewed rather than fixed.

Sjögren’s syndrome (Sjogren syndrome)

Sjögren‘s syndrome is an autoimmune disease attacking the glands that produce tears and saliva, causing dry eyes and dry mouth. Its symptoms sound minor and are not: severe dryness damages the corneal surface, and loss of saliva causes rampant dental decay, difficulty swallowing and altered taste — which is why dental care and eye surveillance are part of the treatment rather than an afterthought.

It also has systemic features that are frequently overlooked — fatigue, joint pain, Raynaud’s, and involvement of the lungs, kidneys and nervous system — and it occurs either alone or alongside rheumatoid arthritis, lupus or scleroderma. One long-term consideration belongs in every discussion of it: the risk of lymphoma is raised compared with the general population, which is why persistent salivary gland swelling is investigated rather than watched. Diagnosis rests on symptoms, tear and saliva measurement, anti-Ro and anti-La antibodies and, where needed, a minor salivary gland biopsy.

Dermatomyositis and polymyositis

Dermatomyositis and polymyositis are inflammatory diseases of muscle, producing weakness rather than pain — and that distinction is the clinical key. The weakness is proximal and symmetrical: difficulty rising from a chair, climbing stairs, or lifting the arms above the head. Muscle pain is variable and often absent, which is why these are missed when the search is for a painful condition.

Dermatomyositis adds characteristic skin changes: a violet discolouration of the eyelids, and raised scaly plaques over the knuckles. Muscle enzymes are raised, and the diagnosis is supported by MRI, electromyography, myositis-specific antibodies and muscle biopsy.

Two things must be said. Involvement of the muscles of swallowing and of breathing is what makes these dangerous, and interstitial lung disease is common with certain antibody patterns and is screened for. And in adults, particularly with dermatomyositis, there is an association with underlying malignancy — so an age-appropriate cancer screen is part of the initial work-up rather than an alarming extra, and finding nothing is the usual and reassuring result.

Vasculitis

Vasculitis is inflammation of blood vessel walls. Because it can affect vessels of any size anywhere in the body, its presentations are extremely varied — and because inflamed vessels can occlude and cut off the blood supply to what they feed, several forms are emergencies. It is classified by the size of vessel involved, and that classification predicts the presentation.

Giant cell arteritis and temporal arteritis

Giant cell arteritis — commonly called temporal arteritis — is inflammation of large and medium arteries, characteristically the branches of the external carotid, in people over fifty. It is the rheumatological condition in which delay does the most damage, because inflammation of the artery supplying the optic nerve causes sudden, painless and permanent loss of vision — and once it has occurred it does not recover.

The presentation is a new headache in someone over fifty, often over the temple, with scalp tenderness noticed on brushing hair or resting on a pillow; jaw pain that comes on while chewing and eases on stopping, which is close to specific; visual disturbance; and marked systemic symptoms with very high inflammatory markers. It overlaps with polymyalgia rheumatica and the two frequently occur together.

Treatment is high-dose steroid, begun immediately on clinical suspicion — before the confirmatory test, because waiting to confirm costs eyes. Diagnosis is then supported by temporal artery ultrasound, which shows a characteristic halo, or by biopsy, which remains informative for a period after steroids are started. Steroid-sparing treatment is added because the course is long and the cumulative steroid burden in this age group is substantial. It is the one condition on this page where the interval between suspicion and the first dose of steroid is measured in hours rather than days.

ANCA vasculitis (ANCA-associated vasculitis) and granulomatosis with polyangiitis

ANCA vasculitis affects small vessels and comprises granulomatosis with polyangiitis, microscopic polyangiitis and eosinophilic granulomatosis with polyangiitis. It is defined by antibodies against neutrophil cytoplasmic antigens, and it is one of the diseases where speed of diagnosis maps directly onto preserved organ function.

Granulomatosis with polyangiitis classically involves the upper airway, the lungs and the kidneys — persistent crusting sinusitis and nosebleeds that fail to respond to ordinary treatment, sometimes with collapse of the nasal bridge; lung nodules or bleeding into the lung; and rapidly progressive glomerulonephritis. Microscopic polyangiitis tends toward kidney and lung without the upper airway granulomas. The eosinophilic form arises in people with asthma and nasal polyps and adds nerve and heart involvement.

The combination that should always trigger urgent investigation is upper airway or lung symptoms together with an abnormal urine dipstick and rising creatinine, because untreated kidney involvement here destroys function within weeks. Treatment is induction with high-dose immunosuppression — rituximab or cyclophosphamide with steroid, and plasma exchange in selected severe cases — followed by prolonged maintenance, managed jointly with nephrology and, where the lungs are involved, pulmonology.

Takayasu arteritis

Takayasu arteritis is large-vessel inflammation of the aorta and its main branches, occurring predominantly in women under forty. Its early phase is systemic and non-specific — fatigue, fever, weight loss, aching — and it is regularly attributed to something else for a long time. Its later phase produces the consequences of narrowed arteries: an absent or weak pulse in one arm, a substantial difference in blood pressure between the two arms, arm claudication on use, dizziness, and hypertension from narrowing of the renal arteries.

A blood pressure difference between the two arms is the finding that most reliably prompts the diagnosis, and it costs nothing to check. Imaging of the whole aorta — MR or CT angiography, with PET where activity is in question — establishes the extent. Treatment is immunosuppression to control inflammation, with vascular intervention reserved for critical narrowing and deliberately timed to a period of quiescence, since operating on actively inflamed vessels fails.

Behçet’s disease (Behcet disease)

Behcet disease is a vasculitis that can affect vessels of any size, and it has a particular geographic distribution along the historical Silk Road — it is markedly more common in Turkey than in most of the world, and this unit sees it accordingly.

Its hallmark is recurrent painful mouth ulcers, present in essentially everyone with the disease, with genital ulcers, and skin lesions resembling acne or tender red nodules. Beyond that it produces inflammation of the eye — a uveitis that threatens vision and is one of the main reasons it requires aggressive treatment — arthritis, involvement of the nervous system, gut ulceration, and, distinctively, a strong tendency to clot in both veins and arteries and to form aneurysms of the pulmonary arteries.

There is no diagnostic blood test; the diagnosis is clinical, made on the pattern and the recurrence. The pathergy test — a small skin prick that produces an exaggerated pustular reaction — supports it where positive. Treatment is scaled to what is involved: mucocutaneous disease is treated with colchicine and topical measures, while eye, nervous system and vascular involvement require systemic immunosuppression promptly. Eye involvement is managed with ophthalmology and needs review rather than delay.

Familial Mediterranean fever

Familial Mediterranean fever is the commonest autoinflammatory disease, and it is markedly more frequent in populations of Turkish, Armenian, Arab and Sephardic Jewish origin. It is caused by mutations in the MEFV gene and is inherited, usually recessively.

It presents in childhood or early adulthood with recurrent attacks lasting one to three days: fever, and severe pain from inflammation of a serosal surface — the abdomen most often, producing pain that mimics appendicitis and leads to unnecessary operations; the chest, producing pleuritic pain; and single large joints. Between attacks the person is entirely well, which is why the diagnosis depends on the history of recurrence rather than on catching an attack.

The reason it is treated even though attacks resolve on their own is the complication nobody feels coming: persistent inflammation between attacks deposits amyloid protein in the kidneys, causing proteinuria and eventually kidney failure. Colchicine, taken continuously and for life, prevents both the attacks and the amyloidosis in the great majority — which makes adherence between attacks, when someone feels perfectly well, the entire treatment. For the minority who do not respond, interleukin-1 blocking drugs are effective. Genetic testing supports the diagnosis, and family members are considered.

Polymyalgia rheumatica

Polymyalgia rheumatica is an inflammatory condition of people over fifty causing pain and marked stiffness in the shoulders, neck and hips — profound in the morning, so that getting out of bed or lifting the arms to dress is difficult — with raised inflammatory markers and a general sense of illness.

Its response to low-dose steroid is characteristically dramatic, often within days, and that response is part of the diagnostic picture. That same feature is a trap: a great many conditions improve somewhat on steroid, so a partial or slow response should prompt reconsideration rather than a higher dose. The differential includes late-onset rheumatoid arthritis, inflammatory myositis, thyroid disease and malignancy.

Two things matter for anyone with this diagnosis. It overlaps with giant cell arteritis, so new headache, jaw pain on chewing or any visual symptom is reported immediately rather than at the next appointment. And treatment lasts a year or more with slow tapering, which means bone protection and monitoring for steroid effects are part of the plan from the start rather than added later.

Fibromyalgia

Fibromyalgia is widespread pain with fatigue, unrefreshing sleep and difficulty with concentration and memory, present for months. It belongs on a rheumatology page because rheumatologists see a great deal of it, and because it is one of the most poorly served conditions in medicine.

Two things are said here plainly. It is not inflammatory: the joints are not damaged, the blood tests are normal, and no amount of immunosuppression helps. And it is not imagined. The current understanding is of altered central pain processing — the nervous system amplifying signals — which is a real mechanism, and dismissing it as psychological is both wrong and one of the reasons people arrive having been told for years that nothing is the matter.

It also coexists with inflammatory disease frequently, and that is where the clinical skill lies: distinguishing a flare of rheumatoid arthritis from fibromyalgia in the same person prevents escalation of immunosuppression that will not help. Treatment that works is unglamorous and consistent across guidelines: graded exercise, which is the single most effective intervention despite being the hardest to start; sleep and pacing; cognitive approaches; and selected medicines acting on pain processing, prescribed by the treating doctor. Opioids do not work in fibromyalgia and cause harm, which is worth stating because they are still prescribed for it.

Osteoporosis and the DEXA scan

Osteoporosis is loss of bone density and quality that makes fracture likely from a fall that would not otherwise break a bone. It is silent until it fractures, which is why it is found by measurement rather than by symptoms — a DEXA scan measures density at the hip and spine, and fracture risk calculators combine it with age, previous fracture, family history, smoking, alcohol and steroid use.

It sits in rheumatology for two reasons. Inflammatory disease itself accelerates bone loss. And the steroids used to treat it are the commonest drug cause of osteoporosis — which is why bone protection is considered at the same time as a steroid course is planned rather than years later. Unexplained or unusually early bone loss also earns the hormonal screen the endocrinology unit describes. Anyone starting long-term steroid should have that conversation on the first day.

The treatments that reduce fracture risk are established and effective, and the honest problem with them is not efficacy but adherence: a large proportion of people stop within a year because the drug does nothing they can feel. Calcium and vitamin D support treatment rather than replace it, and exercise, particularly resistance and balance work, addresses both bone and the falls that break it. Which treatment, and for how long, is decided by the treating doctor against the individual fracture risk.

Septic arthritis, juvenile arthritis and uveitis

Three further conditions complete the specialty and each carries a decision worth stating.

Septic arthritis is infection within a joint, and it is the emergency that every hot swollen joint must be measured against. It destroys cartilage within days. It is diagnosed by aspirating the joint and sending the fluid for urgent microscopy and culture — before antibiotics where possible — and treated with drainage and antibiotics. The reason it belongs here is that it is repeatedly mistaken for a gout attack or a flare of known arthritis, and the two are indistinguishable from the outside, which is why aspiration rather than assumption is the rule.

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis is inflammatory arthritis beginning before the age of sixteen, and it is not simply rheumatoid arthritis in a smaller person: it comprises several distinct subtypes with different behaviours and different outcomes. Its most consequential feature is silent eye inflammation — chronic uveitis that produces no redness and no pain and can damage vision before anyone notices — which is why children with certain subtypes attend regular slit-lamp screening regardless of symptoms. Care is shared with pediatrics and ophthalmology.

Uveitis is inflammation inside the eye, and its connection to this specialty is direct: it is strongly associated with HLA-B27 and the spondyloarthritis family, with Behçet’s disease, with sarcoidosis and with juvenile arthritis. Acute anterior uveitis presents as a painful red eye with light sensitivity and blurring, and it is treated as an ophthalmological priority rather than a routine referral. Recurrent uveitis in a young adult is a reason to look for spondyloarthritis, and that connection is missed frequently in both directions.

Your multidisciplinary team

The rheumatologist makes the diagnosis, chooses and escalates the treatment against a measured target, and manages the drug monitoring that these medicines require indefinitely. The specialist nurse runs that monitoring, teaches injection technique and is usually the first contact in a flare. The physiotherapist and occupational therapist deliver the exercise, joint protection and hand therapy that determine how much function is preserved — in axial spondyloarthritis the exercise programme is treatment rather than support. The pharmacist checks interactions in patients who are frequently on several immunosuppressants at once.

Around them: ophthalmology for uveitis and for hydroxychloroquine monitoring, nephrology for lupus and vasculitic kidney involvement, pulmonology for interstitial lung disease, dermatology for psoriasis and cutaneous lupus, gastroenterology for inflammatory bowel disease and oesophageal involvement, orthopedics for joints that need replacing, rehabilitation for function, and obstetrics for pregnancy planning, which in this specialty is a treatment decision rather than a personal one.

The international patient journey

Rheumatology travels differently from surgery. What a patient usually needs is a diagnosis that has not been reached, or a second opinion on a treatment plan — and a plan that can be carried out at home afterwards.

Send the results, and the sequence they came in

All immune serology with the actual values rather than positive or negative, inflammatory markers over time, imaging including plain films and any MRI, previous biopsy reports, and a complete list of what has been tried — which drug, at what dose, for how long, and why it was stopped. That last item is the most valuable thing in a rheumatology file and the most often missing, because it prevents repeating a treatment that already failed.

Review before travel

The review establishes whether the question is diagnostic or therapeutic, what needs repeating in person, and what can be answered without travelling. A proportion of reviews conclude that the existing treatment is correct, which is a legitimate outcome and is stated as readily as any other.

Assessment on arrival

Examination is the substance of it, with ultrasound of the affected joints in the clinic, blood and urine repeated in one laboratory so values are comparable, imaging where indicated, and joint aspiration where a swollen joint needs an answer. Where a biologic is being considered, screening for latent tuberculosis and hepatitis is done here, because it must be complete before such a drug starts.

A plan that works at home

What matters most is that the plan survives the flight: the drug named with its dose and schedule, the monitoring blood tests with their intervals and the thresholds that should prompt contact, the vaccination position, and what to do in a flare. Shared-care arrangements with the doctor at home are set up before departure rather than after, because these drugs cannot be taken safely without monitoring and a prescription that arrives without a monitoring plan is incomplete.