Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVM) in the brain, lung, liver, gastrointestinal tract, or spine. While pregnant women with HHT are known to have increased risks due to pulmonary AVMs, little is known about any increased risk for fetal birth defects or other adverse pregnancy outcomes. To investigate potential increased risk, individuals with a clinical diagnosis of HHT were asked to complete a survey composed of four sections: demographics, personal history of HHT, personal history of birth defects (modeled after state registries), and reproductive history. A total of 226 participants reported outcomes of 560 pregnancies, as well as self-reported personal history of birth defects. Of the 560 pregnancies, 450 (80.4%) resulted in 457 live births and 63 (13.8%) were pre-term. Of the 110 pregnancy losses, 80 (72.7%) were first trimester and five were stillborn. Anomalies considered to be medically or cosmetically significant were reported in 17 babies (3.7%). The presence of significant anomalies was not significantly associated with whether the baby had an HHT diagnosis (P=0.55) or the gender of the parent with HHT (P=0.32). Four liveborn babies and one stillborn had a cerebral AVM or hemorrhage in the perinatal period. Prevalence of uterine hemorrhage, pre-eclampsia, placental abnormalities, low-birth weight, and infertility did not appear increased over the general population. These data provide some reassurance that HHT does not lead to an appreciable increased risk for birth defects or other adverse pregnancy outcomes.

Hereditary haemorrhagic telangiectasia, an Australian cohort: clinical and investigative features

“…During pregnancy, women are at a high risk of developing complications as a result of HHT. A recent study has shown that HHT does not lead to a significant increase risk of birth defects . The following recommendations should, therefore, be adhered to in order to reduce maximally the risks of HHT during pregnancy (adapted from Shovlin et al .)…”

Imaging of Pregnancy-related Vascular Complications

“…Imaging Features.-Imaging is performed with either MR imaging with MR angiography or CT with CT angiography, depending on the clinical represent the most substantial risk during pregnancy. They result in a physiologic bypass of the capillaries causing hypoxia and predisposing to paradoxical systemic emboli (71). Another feature of HHT, as the name implies, is telangiectasias, particularly of the buccal and nasal mucosae, resulting in repeated epistaxis and subsequent anemia.…”

Multiple embolizations of pulmonary arteriovenous malformations during pregnancy

“…However, given the CAVM found in our patient, as well as the reported findings of intracranial hemorrhage, infarct, or cerebral AVM in neonates, all male, from women with known HHT [6], we recommend frequent growth ultrasounds in women with known HHT to evaluate for fetal AVMs. Women with HHT should have an MRI to evaluate the spine and assist with the decision for regional anesthesia, as well as consideration for a brain MRI if there are any cerebral symptoms [4].…”

“…Women with HHT should have an MRI to evaluate the spine and assist with the decision for regional anesthesia, as well as consideration for a brain MRI if there are any cerebral symptoms [4]. Finally, women with HHT should be counseled that the risk of birth defects in their fetus is not necessarily higher [6], but they are considered a high-risk pregnancy [4], and thus, should be followed as such.…”

“…Commonly, PAVMs are seen in patients with hereditary hemorrhagic telangiectasia (HHT) [1]. An autosomal dominant disease, HHT can present with epistaxis, mucocutaneous telangiectasias, and AVMs in various organs, such as the lung, spine, and brain [6]. The abnormal connections made by PAVMs can lead to intrapulmonary right to left shunting, therefore, causing hypoxemia and complications such as stroke [1].…”