Haem: Hereditary Angioedema: Free MSRA Podcast

🎧 Podcast Episode: Hereditary Angioedema – MSRA Deep DiveIn today’s revision session, we tackle Hereditary Angioedema (HAE) — a rare but high-stakes genetic condition that every MSRA candidate should understand. 📚🩺Let’s break it down simply and memorably.🧬 What is HAE?Hereditary Angioedema is a rare, autosomal dominant condition caused by C1 esterase inhibitor (C1-INH) deficiency or dysfunction, leading to excessive bradykinin production — which causes severe non-pitting, non-itchy, and urticaria-free swelling in the skin, gut, and airway.🧠 Mnemonic:H.A.E. = Hardly Any Enzyme → Huge Amounts of EdemaType 1 = Low levels of C1-INH → “1 is low”Type 2 = Dysfunctional C1-INH → “2 doesn’t do”🚨 Symptoms to Know:• Swelling of face, limbs, genitals• Abdominal attacks: Pain, vomiting, obstruction-like symptoms• Airway swelling: LIFE-THREATENING – priority management• Prodrome: Erythema marginatum (non-itchy, serpiginous rash)• Onset typically in childhood or adolescence• No urticaria, no itching = 🚩 clue it's not allergic angioedema📋 Differentials to Keep in Mind:• Allergic angioedema – Usually itchy, with urticaria• Acquired angioedema – Later onset, often in older adults• ACE-inhibitor induced – Common medication trigger• Idiopathic angioedema – Diagnosis of exclusion🔬 Diagnosis:🧪 C4 level: Typically low during and between attacks🧪 C1-INH antigenic level (how much protein)🧪 C1-INH functional assay (how well it works)🧬 Genetic testing: SERPING1 mutation if needed🔍 Diagnostic Pathway Summary:• Low C4 + low C1-INH level + low function = Type 1• Low C4 + normal/high C1-INH level but ↓ function = Type 2• Normal C4/C1-INH = consider non-HAE causes or rare types💊 Acute Management:❗ Standard allergy meds (antihistamines, steroids, adrenaline) do not work✔️ C1-INH concentrate IV (e.g. Berinert, Cinryze)✔️ Icatibant (Firazyr) – bradykinin receptor antagonist✔️ Ecallantide (not widely available in UK)✔️ Fresh frozen plasma – second-line if others unavailable🛡️ Prophylaxis Options:🩺 Short-term:• Before dental or surgical procedures• C1-INH or FFP (if needed)🩺 Long-term:• Regular C1-INH infusions (e.g. Cinryze)• Lanadelumab – monoclonal kallikrein inhibitor (SC injection)• Berotralstat – new oral kallikrein inhibitor• Older: Danazol (androgen) – limited due to side effects• Tranexamic acid – weak efficacy but used in children👶 Special Groups:• Pregnancy: C1-INH concentrate preferred; avoid androgens• Children: C1-INH and tranexamic acid preferred; newer therapies under study• ACE inhibitors + estrogen-containing meds = AVOID📈 Prognosis & Complications:• If unmanaged, risk of fatal airway obstruction• Abdominal attacks → misdiagnosis, unnecessary surgery• Long-term treatment effects: virilisation (with androgens), reduced QoL• Education, emergency action plans, and regular review are vital for good outcomes🧠 Quick Recap Mnemonics:• H.A.E. = Hardly Any Enzyme• 1 = Low, 2 = Doesn’t do• 3 A’s = Affected sites → Airway, Abdomen, Appearance (Skin)• Red Flags = Swelling with NO itching, NO urticaria, NO pitting🧪 Useful Resources for MSRA:📝 HAE Revision Noteshttps://www.passthemsra.com/topic/hereditary-angioedema-revision-notes/🧠 HAE Flashcardshttps://www.passthemsra.com/topic/hereditary-angioedema-flashcards/❓ Accordion Q&A Noteshttps://www.passthemsra.com/topic/hereditary-angioedema-accordion-qa-notes/🔥 Rapid Quizhttps://www.passthemsra.com/topic/hereditary-angioedema-rapid-quiz/📢 Final Takeaway:Hereditary Angioedema is not your typical allergic swelling. It’s rare, dangerous, and often misdiagnosed. Recognise the signs. Know your diagnostic tests. And treat with targeted therapy – not antihistamines or steroids. 🧬💉#MSRA #MSRARevision #HereditaryAngioedema #HAE #MSRAFlashcards #MSRAQuiz #MSRAQandANotes #MedicalPodcast #TheDeepDive #HaematologyMSRA #PasstheMSRA