Haem: Paroxysmal Nocturnal Haemoglobinuria: Free MSRA Podcast

🎧PNH – ParoxysmalNocturnal Haemoglobinuria Deep Dive for MSRAEver wondered whathappens when red blood cells are attacked by your own immune system? In thisepisode, we unravel the rare and fascinating condition PNH, focusing on what it is, why ithappens, how to recognise it, and how it's treated. This is yourhigh-yield revision companion for MSRAhaematology! 🔍DefinitionPNH is a rare acquired haematological disorder caused bya mutation in the PIGA gene, leading to intravascular haemolysis, bone marrow failure, and increased thrombosis risk.🧠Mnemonic:PNH = Peeing Nighttime Haemoglobin 🧬Pathophysiology🧪PIGA mutation → ↓ GPI-anchored proteins (CD55, CD59)⚔️ Loss of protection from complement system → red cell lysis⚠️ Platelets also affected → ↑ thrombosis risk🧠Mnemonic:Flow so low, CD55 & CD59 won’t show! 💉Key Features• 🔴 Dark urine (especially in the morning – hemoglobinuria)• 😩 Fatigue, anaemia, shortness of breath• ⚡ Abdominal pain, clot risk (e.g. Budd-Chiari syndrome)• 📉 Pancytopenia or marrow failure in some cases 🧪Investigations✔️Flow cytometry (Gold standard – detects absent CD55/CD59)✔️ FBC (anaemia, low WBC/platelets)✔️ LDH ↑, haptoglobin ↓✔️ Urine dip – blood without red cells✔️ Bone marrow biopsy (if failure suspected)✔️ Imaging – for complications (e.g. hepatic veinthrombosis) 🔬Differentials• Autoimmunehaemolytic anaemia• Thromboticmicroangiopathies (TTP, HUS)• Aplastic anaemia• Myelodysplasticsyndrome 📊Epidemiology• 🧬 Acquired, not inherited• 📈 ~1–10 cases per million• 👩‍⚕️ Often in young adults, both sexes• May arisesecondary to aplastic anaemia 💊Management✅Eculizumab (anti-C5 monoclonal antibody) – cornerstonetherapy✅Vaccination against Neisseria meningitidis before eculizumab✅Anticoagulation – for thrombosis prevention/treatment✅Blood transfusions – supportive✅Stem cell transplant – curative option in select cases✅ Consider steroids (e.g.prednisolone) for temporary control🧠Mnemonic:Eculizumab = End Complement Lysis ⚠️Complications• 🔒 Thrombosis (e.g. Budd-Chiari, PE, cerebral vein thrombosis)• 🔄 Bone marrow failure• 🧠 Neurological events• 🚽 Renal dysfunction• 🫁 Pulmonary hypertension• ⚠️ Death from thromboembolism if untreated 🔮Prognosis• 🌟 Improved with complement inhibitors like eculizumab• ⚖️Varies based on clone size & severity• 🧬 Some spontaneous remission possible• 💀 Thrombosis is leading cause of mortality 📚PNH MSRA Resources📖Revision Noteshttps://www.passthemsra.com/topic/paroxysmal-nocturnal-haemoglobinuria-revision-notes/🧠Flashcardshttps://www.passthemsra.com/topic/paroxysmal-nocturnal-haemoglobinuria-flashcards/❓Accordion Q&ANoteshttps://www.passthemsra.com/topic/paroxysmal-nocturnal-haemoglobinuria-accordion-qa-notes/🔥Rapid Fire Quizhttps://www.passthemsra.com/topic/paroxysmal-nocturnal-haemoglobinuria-rapid-quiz/🧪Practice Quizhttps://www.passthemsra.com/quizzes/paroxysmal-nocturnal-haemoglobinuria/ 🎓Key TakeawayPNH is a rare buthigh-impact haematological condition where complement-mediated haemolysis,thrombosis, and marrow failure intersect. Diagnosis = flow cytometry, treatment = eculizumab,and prevention of complications is key tosurvival. #MSRA #PNH#Haematology #MSRARevision #Eculizumab #ComplementCascade #Haemolysis#ParoxysmalNocturnalHaemoglobinuria #MSRAFlashcards #PasstheMSRA#DeepDivePodcasts