Journal of Postgraduate Medicine, Education and Research

Register      Login

VOLUME 58 , ISSUE 1 ( January-March, 2024 ) > List of Articles


Pregnancy Unmasking Hereditary Hemorrhagic Telangiectasia: A Case Report

Bhavneet Kaur, Hari K Boorugu, Usha Ravishankar, Sailaja Devi

Keywords : Case report, Hereditary hemorrhagic telangiectasia, Osler–Weber–Rendu syndrome, Pregnancy

Citation Information : Kaur B, Boorugu HK, Ravishankar U, Devi S. Pregnancy Unmasking Hereditary Hemorrhagic Telangiectasia: A Case Report. J Postgrad Med Edu Res 2024; 58 (1):24-26.

DOI: 10.5005/jp-journals-10028-1646

License: CC BY-NC 4.0

Published Online: 06-02-2024

Copyright Statement:  Copyright © 2024; The Author(s).


Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder characterized by angiodysplasia which may manifest with telangiectasia and arteriovenous malformations (AVMs) in the central nervous system, lung, liver, and gastrointestinal tract. Women suffering from HHT may have a normal pregnancy course but some pregnancies are at risk of fulminant complications related to hormonal and cardiovascular changes of pregnancy. Hence, it becomes very important to diagnose this condition promptly and monitor women with HHT carefully to reduce morbidity and mortality associated with the disease. We present two women diagnosed with HHT in pregnancy who presented to our institution with different clinical scenarios. Based on the clinical findings, family history and high index of suspicion, we were able to diagnose and manage them accordingly.

  1. Chung MG. Hereditary hemorrhagic telangiectasia. Handb Clin Neurol 2015;132:185–197. DOI: 10.1016/B978-0-444-62702-5.00013-5
  2. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med 2011;13(7):607–616. DOI: 10.1097/GIM.0b013e3182136d32
  3. de Gussem EM, Lausman AY, Beder AJ, et al. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstet Gynecol 2014;123(3):514–520. DOI: 10.1097/AOG.0000000000000120
  4. Cottin V, Plauchu H, Bayle JY, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. Am J Respir Crit Care Med 2004;169(9):994–1000. DOI: 10.1164/rccm.200310-1441OC
  5. Cottin V, Plauchu H, Dupuis-Girod S, et al. Pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: follow-up and pathophysiologic considerations. J Vasc Interv Radiol 2007;18(7):938–939. DOI: 10.1016/j.jvir.2006.12.741
  6. Bevelaqua FA, Ordorica SA, Lefleur R, et al. Osler-Weber-Rendu disease. Diagnosis and management of spontaneous hemothorax during pregnancy. N Y State J Med 1992;92(12):551–552. PMID: 1484630.
  7. Shovlin CL, Sodhi V, McCarthy A, et al. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG 2008;115(9):1108–1115. DOI: 10.1111/j.1471-0528.2008.01786.x
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.