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Exam Cram
Exam Cram
HHT (also Osler-Weber-Rendu Syndrome) is an autosomal dominant genetic disorder of abnormal blood vessel formation causing telangiectasia and arteriovenous malformations
Presentation: epistaxis, o/e telangiectasia, iron deficiency anaemia
Diagnosis: genetic testing or Curacao criteria
Mangement: MDT- genetic counselling, manage complications e.g. PO iron,
Outline
Outline
Background
Background
HHT has commonly two types:
Type1: ENG gene
Type 2: ACVLR1 gene
SMAD4 gene associated with juvenile polyposis syndrome
A typical complication is a pulmonary AVM connects a pulmonary artery to a pulmonary vein, enabling a right to left shunt without pulmonary hypertension
Complications (AVMs)
Lungs: sob, Haemoptysis: right to left shunt causing CHF from hypoxemia (VQ mismatch)
CNS: seizures, headache, ICH/ stroke
GI Tract & liver: IDA, portal hypertension
Prognosis: near normal life expectancy with early diagnosis & surveillance of AVMs
Assessment
Assessment
Presentation
Epistaxis
Anaemia: lethargy, sob, palpitations
Family history HHT
Examination
Telangiectasia: lips, tongue, oral and nasal mucosa, face & fingers
Investigations
FBC
Iron studies- IDA
Diagnosis
Diagnosis
Diagnostic criteria: Curacoa criteria
Recurrent spontaneous epistaxis
Multiple mucocutaneous telangiectasia
AVMs visceral: lung, liver, brain GI tract
First degree relative with HHT
Interpretation:
3-4: diagnostic
1-2 features: consider genetic testing, e.g. familial screening
Management
Management
MDT: Genetic Counselling
Screening AVMs:
Cerebral AVMs: MRI-H
GI AVMs: Endoscopy/ colonoscopy/ capsule
Pulmonary: ECHO ?right to left shunt, CT Chest
Treating AVMs:
Epistaxis: nasal humidification, topical therapy, laser treatment, surgery
Medical: PO iron supplementation,
Surgical: Endovascular AVM emobolisation- pulmonary, cerebral, hepatic
LinkS
LinkS
Written in 2026
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