Derm: Hereditary haemorrhagic telangiectasia: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Hereditary Haemorrhagic Telangiectasia (HHT)🎧 A clear, high-yield breakdown of this genetic vascular condition with bleeding risks – perfect for exam prep and clinical scenarios.🧠 Key Learning Points📌 Definition• A rare, autosomal dominant disorder causing abnormal blood vessel formation – leading to telangiectasia and arteriovenous malformations (AVMs).• Also known as Osler-Weber-Rendu syndrome.📌 Causes & Risk Factors• Inherited mutation in ENG (HHT type 1) or ACVRL1/ALK1 (HHT type 2) genes• 50% chance of inheritance if one parent is affected• De novo mutations in ~20% of cases• No sex or race predominance, but higher prevalence in certain founder populations (e.g. Afro-Caribbean, Curacao)📌 Pathophysiology• Defective vessel development → fragile telangiectasia and AVMs• AVMs bypass capillaries → risk of bleeding or emboli• Can affect lungs, brain, liver, GI tract📌 Symptoms• Recurrent epistaxis (nosebleeds) – often the earliest sign• Mucocutaneous telangiectasia – blanching red spots on lips, tongue, face, fingers• GI bleeding → iron deficiency anaemia• Pulmonary AVMs → breathlessness, hypoxaemia, paradoxical emboli• Brain AVMs → seizures, headaches, stroke risk• Liver AVMs → high-output heart failure (rare)📌 Differential Diagnosis• CREST syndrome (telangiectasia + scleroderma features)• Acquired telangiectasia (e.g. sun damage, meds, liver disease)• Bleeding disorders (e.g. von Willebrand disease)• Vasculitis (e.g. SLE)📌 Diagnosis• Clinical diagnosis via Curacao criteria: 1. Recurrent epistaxis 2. Mucocutaneous telangiectasia 3. Visceral lesions (e.g. AVMs) 4. First-degree family history ✅ 3 = definite HHT, 2 = possible• Confirm with genetic testing for ENG/ACVRL1 mutations• Imaging: - CT chest / bubble echo → pulmonary AVMs - MRI brain → cerebral AVMs - GI endoscopy - Doppler US/CT/MRI for liver AVMs📌 Management• Control bleeding: - Iron supplements or IV iron - Nasal cautery, laser therapy, septodermoplasty - Tranexamic acid for recurrent bleeding - Hormonal therapy (e.g. oestrogen) for GI bleeds• Treat AVMs: - Embolisation (lungs, brain) - Surgery if required• Surveillance: - Regular screening for AVMs - Monitor haemoglobin/iron• Family screening if mutation confirmed📌 Complications• Life-threatening haemorrhage• Stroke (from paradoxical emboli via lung AVMs)• Heart failure from hepatic AVMs• Chronic anaemia, fatigue, poor QoL• Missed diagnosis due to subtle external signs📌 Prognosis• Generally good with early diagnosis, regular screening, and AVM management• Prognosis depends on location/severity of AVMs• Genetic counselling and family screening are key for prevention📎 More MSRA Resources for Hereditary Haemorrhagic Telangiectasia📝 Revision Notes:https://www.passthemsra.com/topic/hereditary-haemorrhagic-telangiectasia-revision-notes/🧠 Flashcards:https://www.passthemsra.com/topic/hereditary-haemorrhagic-telangiectasia-flashcards/💬 Accordion Q&A Notes:https://www.passthemsra.com/topic/hereditary-haemorrhagic-telangiectasia-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/hereditary-haemorrhagic-telangiectasia-rapid-quiz/🧪 Topic Quiz:https://www.passthemsra.com/quizzes/hereditary-haemorrhagic-telangiectasia/🎓 Full Course:https://www.passthemsra.com/courses/dermatology-for-the-msra/📣 All resources are part of the Dermatology for the MSRA course at PassTheMSRA.com.Explore full revision guides, quizzes, flashcards and more at:👉 https://www.passthemsra.com#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #HereditaryHaemorrhagicTelangiectasia #HHT #OslerWeberRendu #DermatologyMSRA