Hereditary haemorrhagic telangiectasia

Welcome to Hereditary Haemorrhagic Telangiectasia

Welcome to the Hereditary haemorrhagic telangiectasia subsection of the Dermatology for the MSRA course.

This section is designed to provide comprehensive and structured learning materials to help you understand and master the topic of Hereditary haemorrhagic telangiectasia for the MSRA.

Resources for Hereditary Haemorrhagic Telangiectasia for the MSRA

Hereditary Haemorrhagic Telangiectasia Revision Notes for MSRA: Detailed revision notes covering all essential aspects of Hereditary haemorrhagic telangiectasia, including causes, symptoms, diagnosis, and treatment. These notes are designed using UK NICE guidelines and are presented in a table format for easy recall.
Hereditary Haemorrhagic Telangiectasia Flashcards for MSRA: Interactive flashcards to help you memorise key facts and concepts. Ideal for quick reviews and reinforcing knowledge.
Hereditary Haemorrhagic Telangiectasia Accordion Q&A Notes for MSRA: A question-and-answer style resource to test your understanding. Perfect for active learning and reinforcing weak areas.
Hereditary Haemorrhagic Telangiectasia Rapid Fire Quiz for MSRA: A short quiz to test your recall of key concepts. An excellent way to assess your progress.

Key Points about Hereditary Haemorrhagic Telangiectasia

Definition: Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder characterised by abnormal blood vessel formation, leading to telangiectasia and frequent bleeding, particularly from the nose and gastrointestinal tract.
Causes: HHT is an autosomal dominant disorder caused by mutations in genes that regulate blood vessel development. Common mutations are found in the ENG and ACVRL1 genes.
Symptoms: The most common symptom is recurrent nosebleeds (epistaxis), but patients may also develop telangiectasia on the skin and mucous membranes, gastrointestinal bleeding, and arteriovenous malformations (AVMs) in organs such as the lungs, liver, and brain.
Diagnosis: Diagnosis is clinical, based on the Curacao criteria, which include recurrent epistaxis, mucocutaneous telangiectasia, AVMs, and a family history of HHT. Genetic testing can confirm the diagnosis.
Management: Treatment focuses on controlling bleeding, typically with nasal humidification, laser therapy, or cauterisation for epistaxis. AVMs may require embolisation or surgery. Iron supplementation or blood transfusions may be necessary for chronic blood loss.
Complications: Major complications include life-threatening bleeding, strokes from cerebral AVMs, and high-output heart failure from hepatic AVMs. Timely intervention and regular monitoring are crucial to prevent serious outcomes.