Case report: Twin pregnancies with heterozygous GDF2-related hereditary hemorrhagic telangiectasia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder characterized by recurrent epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations (AVMs). Only a few cases related to the variants of the GDF2 gene have been described. Pregnancies with HHT are associated with maternal risk; therefore, these pregnancies require special management. We report the case of a 32-year-old pregnant woman in China. Six years prior to presentation, she had thrombocytopenia. At 12 weeks of gestation, epistaxis was aggravated. Physical examination revealed telangiectases of the nasal cavity, lips, and tongue. Whole-exome sequencing (WES) was performed to detect gene variations. The WES identified a heterozygous variant of the GDF2 gene (c.871G > A, p.G291S) in exon 2. Combined with the clinical manifestations and genetic testing, the patient was diagnosed with heterozygous GDF2 -related HHT. During pregnancy, the patient was treated with vitamin A and D drops, electrocoagulation under nasal endoscopy, and NasoPore nasal dressing. Due to uncontrollable epistaxis during pregnancy and multiple malformations in one of the twins, the patient underwent caesarean section and selective fetal reduction at 33 weeks of gestation. The patient was discharged six days later. We reported the first case of a pregnant woman with heterozygous GDF2 -related HHT. Physiological changes during pregnancy predispose HHT pregnancies to high risk of hemorrhage, thereby leading to severe complications during pregnancy or delivery. We propose that recognizing the risk of HHT pregnancies, identifying AVMs in advance, and properly managing epistaxis and complications related to AVMs can improve pregnancy outcomes.