Evaluation of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT)

A Retrospective Study of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT)

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of about 1/5000. It is manifested by haemorrhage, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs) (lung, liver and nervous system).

Severe complications during pregnancy in HHT are rare but considered high risk. Intracranial or pulmonary haemorrhage, stroke and heart failure have been reported in some women with HHT during pregnancy. These complications occur most often in the second and third trimesters when maternal physiological changes such as peripheral vasodilatation and increased cardiac output are at their peak.

Previous retrospective studies were conducted with numbers ranging from 40 to 97 patients and highlighted the importance of early screening of complications and specific management.

The aim of this study is to describe, on a larger number of patients, the obstetric and neonatal complications in patients with HHT and followed in the French Reference Center for HHT.

Inclusion Criteria:

• Women ≥ 18 years.
• Patients monitored for clinically confirmed Hereditary Haemorrhagic Telangiectasia (presence of at least three Curaçao criteria) and / or with molecular biology confirmation.
• Patients with at least 1 full term pregnancy between 1960 and 2018.
• Received information and no opposition to participate in the study.

Exclusion Criteria:

• No full term pregnancies.
• Refusal to participate in the study.