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///2013 Abstract Details
2013 Abstract Details2019-08-02T16:57:45-05:00

Heriditary Haemorrhagic Telangiectasia

Abstract Number: T 44
Abstract Type: Case Report/Case Series

Usha P Nair MD. FRCA1 ; Laura Carrick MBBS2; Enaz Wahdan MBBS3

Heriditary Haemorrhagic Telangiectasia is an autosomal dominant disorder affecting I in 5-8000 individuals (1). Arteriovenous malformation (AVM) can occur in these patients which are are usually silent manifestation of the condition. Pulmonary Arteriovenous malformation (PAVM) can occur up to 48% , Hepatic upto 30%, Cerebral upto 10% of cases.The alteration in cardiac physiology which occur with pregnancy increases the risk of AVM rupture. We report a case of life threatening haemorrhage from the rupture of PAVM in a pregnant lady with known HHT.

Case Report:

A 35 yr old primi gravida at 26 week of pregnancy was admitted following a collapse at home.She had woken with severe abdominal and chest pain.The pregnancy was uneventful otherwise apart from two episodes of epistaxis. On arrival she was in shock with a haemoglobin of 6 and severely acidotic. Portable Ultrasound scan of abdomen was performed to rule out abruption which also showed absent fetal heart. After initial resuscitation a laparotomy was performrd to rule out intra abdominal bleed which was negative.She was admitted to high dependency unit(HDU) for post operative care and a routine postoperative chest X Ray showed white out of left lung. USS confirmed haemothorax. A chest drain was inserted at this stage which drained 2.5 liters of blood.She improved following that.The drains were removed the next day and was discharged from HDU. She developed haemoptysis 2 days later and blood reaccumulated in thorax.A PAVM was suspected because of the history of HHT and CT chest revealed this. PAVM was successfully coiled few days later.

With this diagnosis the patient’s history of HHT was re-examined. She had previously suffered from recurrent epistaxis associated with migraines.She denied any history of shortness of breath, prior episodes of haemopytosis or seizures and the only clinical signs of her condition were small telangiectasia spots on her tongue.

Discussion: Pregnancy in women with HHT should be managed as high risk. Ideally the patient should be screened for PAVM pre-pregnancy however, despite this the management of asymtpomatic PAVM during pregnancy is unclear, due to the risks associated with treatment balanced against the low risk of complication. Shovlin et al(2) feel that for this reason the screening and treatment of PAVM in asymptomatic pregnancy is unjustified. The knowledge of the condition and therefore pre-planning in the event of an emergency can improve outcome and would have expediated focused management for PAVM in this case.


1.FS Govani & CL Shovlin. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. European Journal of Human Genetics (2009); 17: 860-871.

2.CL Shovlin, V Sodhi, A McCarthy et al Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. British Journal of Obstetrics and Gynaecology (2008); 115(9): 1108-1115.

SOAP 2013