Obstetrical and neonatal complications in hereditary haemorrhagic telangiectasia: A retrospective study

Abstract

Objective To retrospectively describe a large series of pregnancies in women with hereditary haemorrhagic telangiectasia followed in our reference centre, plus neonatal outcomes, to better understand the risks of complications and to improve their prevention. Design A retrospective descriptive study conducted through a phone questionnaire. Setting Reference centre for hereditary haemorrhagic telangiectasia in Lyon, France. Population Women meeting the following criteria: (1) alive and aged ≥18 years; (2) with a definite clinical and/or genetic diagnosis of hereditary haemorrhagic telangiectasia; and (3) with at least one full‐term pregnancy. Main outcome measures Maternal and perinatal outcomes of pregnancies in women with hereditary haemorrhagic telangiectasia. Results Five hundred and sixty‐two pregnancies were reported in 207 women with hereditary haemorrhagic telangiectasia. A total of 271 complications (48.2%) were registered. Of these, 149 (55%) non‐specific complications, 110 (40.6%) non‐severe specific complications and 12 (4.4%) severe specific complications were registered. There were four cases of haemoptysis and two cases of transient ischaemic attack related to pulmonary arteriovenous malformations. Four patients had severe decompensated dyspnoea, related to pulmonary arteriovenous malformations in three cases and to pulmonary arteriovenous malformations associated with severe hepatic arteriovenous malformations in one case. Hepatobiliary necrosis occurred in one case. Epidural or spinal anaesthesia was performed in 139 of 452 deliveries (31%), without complications. There were 12 reports of congenital anomalies in 461 live births (3%). Conclusions Most pregnancies in hereditary haemorrhagic telangiectasia women are uneventful; complications are rare but can be severe. Women thus need to be educated about screening and possible pregnancy‐related risks before becoming pregnant.

Liver imaging and pregnancy: what to expect when your patient is expecting

“…HHT is often diagnosed during pregnancy, mainly in the 3rd trimester or after delivery. Most pregnancies are uneventful, but there is a significant maternal risk of arteriovenous malformation rupture [ 60 ]. The Curaçao Diagnostic Criteria are usually used for diagnosis, including the family and personal clinical history associated with findings of diffuse telangiectasias and shunts, heterogeneous liver enhancement, and a common hepatic artery > 6 mm in diameter to confirm the diagnosis [ 33 , 59 , 60 ] (Fig.…”

The challenges of pregnancy with hereditary haemorrhagic telangiectasia

“…Dear Dr Papageorghiou, We appreciate the unique study by Delagrange et al 1 reporting the largest ever series of pregnancies in women with hereditary haemorrhagic telangiectasia (HHT) treated in their institute over a large time frame. The authors have taken the initiative to compare the data extracted from the retrospective chart review with the responses obtained from telephonic conversations.…”

“…The data that support the findings of this study are available from the corresponding author upon reasonable request. 1 In the article, we retrospectively described a large series of pregnancies in women with hereditary haemorrhagic telangiectasia followed in our reference centre plus neonatal outcomes, to better understand the risks of complications and to improve their prevention. Our findings indicated that severe complications during pregnancy or delivery in HHT are rare.…”

Recurrent Paradoxical Embolism and Manganese Deposition in the Basal Ganglia in a Patient with Hereditary Haemorrhagic Telangiectasias: A Case Report and Literature Review

“…To our knowledge, Joel Agarwal et al [23] summarized the information of 8 non-case studies and 15 case studies from MEDLINE and EMBASE about HHT patients with PAVM and neurological complications, including ischemic stroke and transient ischemic attack (TIA). Then we here provided both non-case studies (Table 1) [24][25][26][27][28][29][30] and case studies (Table 2) [31][32][33] related to HHT patients with PAVM-induced ischemic stroke from 2017 to 2023. The non-case studies we showed in Table 1 were found tended to discuss the correlation between PAVM and stroke in general or PAVM population, rather than in the HHT cohorts.…”

“…The study also showed no correlation between the characteristics of PAVM and the severity of TIA or stroke, while Johan Etievant et al [28] held the opposite opinion. Additionally, patients with HHT-related PAVM had a greater rate of ischemic stroke than the general population [26, 28, 29], which was supposed to be attached importance to particularly during pregnancy or postpartum in women [24]. HHT can lead to various symptoms, thus usually involving a great many clinical departments.…”