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Hereditary haemorrhagic telangiectasia: A case report
Asfandyar Mufti1, Muskaan Sachdeva2, Khalad Maliyar2
1Division of Dermatology, University of Toronto, Toronto, ON, Canada.
SAGE Open Medical Case Reports
|August 16, 2021
Summary
Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder causing abnormal blood vessels. Early recognition of mild symptoms like nosebleeds and skin telangiectasias is crucial for monitoring severe HHT complications.
Area of Science:
- Genetics
- Vascular Biology
- Medical Case Reports
Background:
- Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder.
- Characterized by abnormal blood vessel formation, leading to mucocutaneous telangiectasias and visceral arteriovenous malformations.
Observation:
- A 30-year-old female with HHT presented with epistaxis, mucocutaneous telangiectasias, and a family history.
- Activin receptor-like kinase 1 mutation confirmed the diagnosis.
- Physical examination revealed telangiectasias on the face, tongue, and a forearm vascular malformation.
Findings:
- The patient exhibited the classic triad of HHT symptoms.
- Skin and nasal telangiectasias were noted, alongside a forearm vascular malformation.
- Genetic analysis identified an activin receptor-like kinase 1 mutation.
Implications:
- Mild HHT symptoms like epistaxis and skin telangiectasias warrant close monitoring.
- Timely recognition aids in vigilant surveillance for severe HHT complications.
- Early detection facilitates management of potential cerebral and pulmonary arteriovenous malformations.
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