Medical science, drawn into focus.

X-linked Agammaglobulinaemia (XLA / Bruton’s Disease)

Overview X-linked agammaglobulinaemia (XLA) is a rare primary immunodeficiency caused by mutations in the Bruton’s tyrosine kinase (BTK) gene , leading to failure of B-cell maturation. It results in profound hypogammaglobulinaemia and susceptibility to recurrent bacterial infections, particularly with encapsulated organisms. It usually presents after 6 months of age (once maternal IgG wanes). Prevalence is…

Eosinophilic Granulomatosis with Polyangiitis

Overview EGPA (formerly Churg-Strauss syndrome) is a rare, small-to-medium vessel necrotizing vasculitis characterized by asthma, eosinophilia, and extravascular granulomas. It commonly affects the lungs, skin, peripheral nerves, and heart. Annual incidence: ~1–3 per million; peak onset in 40s–60s; no significant gender bias. Strongly associated with MPO-ANCA positivity in ~40–60% of patients; others are ANCA-negative. Eosinophilia…

Caplan Syndrome

Overview Caplan syndrome, also known as rheumatoid pneumoconiosis, is a rare condition seen in patients with rheumatoid arthritis (RA) who have had occupational exposure to inhaled dust, particularly coal dust or silica. It is characterised by multiple, rounded pulmonary nodules and underlying pneumoconiosis. It primarily affects middle-aged male coal workers and is now rare in…

Birth Defects

Overview Birth defects are the leading cause of perinatal and post- neonatal deaths, and result in substantial morbidity and disability in developed countries. There is a wide variety of mechanisms including genetic, environmental and multifactorial. Major birth defects affect 2–3% of live-borns, and minor birth defects affect 15%. Preventative strategies remain limited, but include maternal folic acid supplementation,…

Colorectal Cancer

Overview Colon cancer is the second most commonly diagnosed cancer. 1/12 people will develop bowel cancer before the age of 85. However, there are Survival rates are increasing. Early bowel cancer is cured by surgery alone (screening is important!!). If untreated, or diagnosed when distance metastases are present, >98% pf patients die in <5 years. Polyps: …

Chronic Widespread Pain

Overview Chronic widespread pain (CWP) is a nociplastic pain phenotype defined by persistent (≥3 months) pain affecting multiple body regions, with high comorbidity with fatigue, sleep disturbance, mood symptoms and functional impairment. The pooled global prevalence is ~10% (women>men), with higher rates in lower-HDI settings. CWP is recognised in ICD-11 within the chronic primary pain…

Guillain–Barré Syndrome

Overview Guillain-Barré Syndrome (GBS) is an acute, immune-mediated polyneuropathy typically triggered by a preceding gastrointestinal or respiratory infection. It is characterised by an autoimmune attack on the peripheral nerves, leading to mainly demyelination but also axonal degeneration, which impairs nerve conduction and causes muscle weakness and paralysis. GBS affects about 1–2 per 100,000 people annually.…

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