Gastro: Haemochromatosis: Free MSRA Podcast

🎧MSRA PODCAST:Haemochromatosis – Genetics, Diagnosis & Management⚕️ A rapid, high-yield deep dive into one of the mostcommon inherited metabolic conditions in the UK – Hereditary Haemochromatosis. Based on NICE UK guidance and perfect for MSRAprep. 🧠Key Learning Points📌Definition• Haemochromatosis = inherited disorder causing excessive iron absorption → iron overload intissues (esp. liver, heart, pancreas).🧠“Iron filing cabinetoverflowing!” 📌Cause & Genetics• Autosomal recessive, due to mutations in HFE gene on chromosome 6• Main mutations: C282Y (most common), H63D• Pathophysiology: ↓Hepcidin → ↑ iron absorption🧠Homozygous C282Y =highest risk 📌Epidemiology• ~1 in 200 affected in the UK• Up to 1 in 10 are carriers• Most common in Northern European ancestry (e.g. Irish,Scottish)🧠More common thancystic fibrosis! 📌Symptoms• Often asymptomatic for years• Classic earlysigns: – Fatigue – Arthralgia (esp.MCP joints) – ↓ Libido,erectile dysfunction – RUQ discomfort• Later signs: – Bronze skin (hyperpigmentation) – Diabetes mellitus – Hepatomegaly and cirrhosis – Heart failure, arrhythmias🧠Mnemonic: “EARLYIRONING” = Exhaustion, Arthralgia, Reduced libido, Liver signs, Yawning,Irritability, Non-specific symptoms 📌DifferentialDiagnoses• Chronic liverdisease (viral, alcohol, NAFLD)• Iron-loadinganaemias (e.g. thalassaemia)• Metabolic syndrome• Other rare irondisorders (e.g. ferroportin disease, juvenile haemochromatosis)🧠Always rule outsecondary iron overload from transfusions or liver disease 📌Investigations✅Initial blood tests: – Transferrin Saturation (TSAT) ↑ (>45% men,>40% women – fasting sample) – Serum Ferritin ↑ (but non-specific)✅Genetic Testing: – C282Y / H63D mutations✅ Consider: – LFTs, CRP (toexclude other causes) – Liver MRI orbiopsy if ferritin >1000 µg/L✅Organ damagescreening: – Glucose/HbA1c – ECG + Echo – Sex hormones(e.g. testosterone, LH/FSH) – DEXA forosteoporosis🧠Do not rely onferritin alone 📌Management✅Mainstay:Therapeutic phlebotomy (venesection): – Weekly tobiweekly until ferritin <50 µg/L – Maintenance every2–4 months✅Chelation: If phlebotomy contraindicated (e.g. severeanaemia)✅Lifestyle: – Avoid ironsupplements – Limit alcohol – Limit high-dosevitamin C✅Vaccinate: Hep A + B (if liver involvement)🧠Dietary changes aresecondary to phlebotomy! 📌Complications• Liver cirrhosis → ↑ risk of HCC• Diabetes• Heart failure (cardiomyopathy)• Arthropathy• Hypogonadism🧠Some improve withiron removal (e.g. fatigue), but others like joint damage or cirrhosis areoften irreversible 📌Prognosis✅Excellent if diagnosed early and treated✅ Lifespan usually normal withgood phlebotomy adherence❗ Untreated = risk of permanent organ damage🧠Ferritin >1000µg/L = red flag for liver fibrosis 📎Haemochromatosis MSRAResources📝Revision Notes:https://www.passthemsra.com/topic/haemochromatosis-revision-notes/🧠Flashcards:https://www.passthemsra.com/topic/haemochromatosis-flashcards/💬Accordion Q&ANotes:https://www.passthemsra.com/topic/haemochromatosis-accordion-qa-notes/🚀Rapid Fire Quiz:https://www.passthemsra.com/topic/haemochromatosis-rapid-quiz/🎓Gastro Course Home:https://www.passthemsra.com/courses/gastroenterology-for-the-msra/ Hashtags#MSRA #MSRARevision#HaemochromatosisMSRA #MSRAFlashcards #IronOverload #GastroMSRA #MSRAQuiz#MSRAAccordions #MSRAQandANotes #NICEGuidelines #HFEgene #Phlebotomy#MSRAOnlineRevision #MSRATextbook