Autoinflammatory, heritable & pain syndromes flashcards
10 high-yield MRCP Part 1 cards from the Intellect Medicos Rheumatology course. Try to answer each question before you open it — then study them properly with spaced repetition, which brings each card back just before you would forget it.
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A 28-year-old woman has 3 weeks of daily spiking fevers, a sore throat, polyarthralgia and an evanescent salmon-pink rash that appears with the fever. RF and ANA are negative. Which blood test result is characteristically very high?
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Serum ferritin (marked hyperferritinaemia).
Why? Adult-onset Still's disease is a systemic autoinflammatory disorder. Treat with NSAIDs and steroids, then methotrexate, then IL-1 or IL-6 blockade (anakinra, canakinumab, tocilizumab).
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Familial Mediterranean fever is an autosomal recessive autoinflammatory disease caused by mutations in the ______ gene, which encodes ______.
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MEFV; pyrin
Why? It causes recurrent self-limiting attacks of fever and serositis from childhood.
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What is the first-line treatment of familial Mediterranean fever?
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Lifelong colchicine.
Why? It prevents attacks and the long-term risk of AA amyloidosis. IL-1 inhibitors (anakinra, canakinumab) are used if colchicine fails or is not tolerated.
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A tall 19-year-old man with arachnodactyly, arm span greater than height and upward lens dislocation is found to have a dilated aortic root. What is the first-line medical treatment to slow aortic dilatation?
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A beta-blocker (an ARB such as losartan is an alternative or addition).
Why? Marfan syndrome (autosomal dominant FBN1/fibrillin-1 mutation) causes aortic root dilatation and dissection. Beta-blockers cut aortic wall stress; surgery is advised at a root diameter of about 5.0 cm or rapid growth.
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Which gene is mutated in vascular (type IV) Ehlers–Danlos syndrome?
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COL3A1 (type III collagen).
Why? Vascular EDS is the most dangerous type: arterial, bowel and uterine rupture with thin translucent skin. Celiprolol may reduce vascular events.
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Which eye finding is characteristic of pseudoxanthoma elasticum?
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Angioid streaks (breaks in Bruch's membrane).
Why? PXE is autosomal recessive (ABCC6 gene) with "plucked chicken" skin papules, early atherosclerosis and GI bleeding.
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What is the classic electron microscopy finding in Langerhans cell histiocytosis?
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Birbeck granules ("tennis racket" shape).
Why? Cells are CD1a, langerin (CD207) and S100 positive; the commonest mutation is BRAF V600E. Features include lytic skull lesions and diabetes insipidus.
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In relapsing polychondritis, which part of the ear is characteristically spared?
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The ear lobe (it contains no cartilage).
Why? Inflammation targets cartilage (type II collagen): auricular chondritis, saddle-nose deformity and tracheobronchial involvement (stridor).
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Which drug class may NICE consider for fibromyalgia (chronic primary pain), and which drugs should NOT be started?
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Consider an antidepressant (e.g. amitriptyline, duloxetine). Do not start gabapentinoids, NSAIDs, opioids or paracetamol.
Why? Exercise programmes, education and psychological therapy are first-line; fibromyalgia is a diagnosis of exclusion with normal blood tests.
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In ME/chronic fatigue syndrome, which previously used therapy does NICE (2021) no longer recommend?
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Graded exercise therapy (fixed incremental increases in activity).
Why? Post-exertional malaise is the hallmark, so NICE recommends energy management (pacing) instead. CBT may help coping but is not curative.