Dr Katie Lane1, Dr Elise Gilbertson1, Dr Sophie Poulter1
1Sunshine Coast University Hospital, Birtinya, Australia
Biography:
Biographies to come
Abstract:
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant condition with a prevalence of approximately 1 in 5000–8000. Due to the high-risk nature of pregnancies complicated by HHT, women are recommended to birth at a tertiary referral centre. We report on nine pregnancies in six HHT patients managed through the Sunshine Coast University Health Service (SCHHS) between 2018-2024.
HHT may be complicated by visceral arterio-venous malformations (AVMs), including pulmonary in 48% and cerebral in 10% of cases respectively. Published literature suggests HHT in pregnancy is associated with 1% risk of maternal mortality and 2.6-6.8% risk of severe maternal complications, of which pulmonary AVM related events are the most common. While there are international guidelines for management, clarification of individual risk in pregnancy is difficult. Published datasets are small and do not distinguish between those with unknown or confirmed HHT. It is also unclear whether the pregnancy outcomes differ for those screened and/or treated for AVMs compared with those not screened.
This case series details the management of nine pregnancies complicated by HHT. Two cases underwent pulmonary AVM embolisation during pregnancy, whilst one was delayed until post-partum. One had pulmonary and splenic AVM embolisation preconception. Two cases underwent routine screening but did not require intervention.
Delivery was planned and included three vaginal deliveries. Two patients required emergency caesarean section for obstetric indications. One of these patients subsequently had an elective repeat caesarean and the other, a successful VBAC. Two patients are currently in their third trimester. The only adverse outcome was one patient with a 4 Litre post-partum haemorrhage due to uterine atony. Neonatal screening for HHT with genetic testing and/or MRI imaging was undertaken in three cases.
Our experience suggests HHT can been managed safely during pregnancy with remote tertiary service, provided appropriate screening, planning and multi-disciplinary input is available.
Keywords
arteriovenous, hereditary, haemorrhagic, telangiectasia
References
1. Dupuis O, Delagrange L, Dupuis-Girod S. Hereditary Haemorrhagic Telangiectasia and pregnancy: A review of the literature. Orphanet Journal of Rare Diseases. 2020 Jan 7;15(1). doi:10.1186/s13023-019-1286-z
2. Geisthoff U. Second international guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia. Annals of Internal Medicine. 2021 Jul;174(7):1034–5. doi:10.7326/l21-0066
3. Shovlin C, Sodhi V, McCarthy A, Lasjaunias P, Jackson J, Sheppard M. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler–Weber–Rendu Syndrome): Suggested Approach for Obstetric Services. BJOG: An International Journal of Obstetrics & Gynaecology. 2008 Jul 14;115(9):1108–15. doi:10.1111/j.1471-0528.2008.01786.x