J Clin Obstet Gynecol Infertil | Volume 1, Issue 1 | Case Report | Open Access
Antonio Maiorana*, Emanuela Ognibene, Giovanni Parisi, Walter Alio, Domenico Incandela, Francesco Forlani and Luigi Alio
Department of Obstetrics and Gynecology, Civico Hospital Palermo, Italy
*Correspondance to: Antonio Maiorana
Fulltext PDFRendu-Osler-Weber syndrome or Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal-dominant angiodysplasia characterized by the development of mucocutaneous telangiectases and arteriovenous malformations (AVMs) in the central nervous system, lung, liver and gastrointestinal tract. Its most common symptoms are epistaxis and gastrointestinal bleeding. Visceral AVMs cause headache, cerebral ischemia and abscess, stroke, dispnea, cyanosis, hemothorax, embolia, and fatal haemorrhage from the rupture of AVMs. Its diagnosis is mainly clinical, based on the Curacao criteria: recurrent epistaxis, telangiectases, gastrointestinal bleeding and family history of HHT. Treatment is mostly symptomatic. When HHT is coupled with pregnancy, it may be associated with a higher risk of complications because the typical hormonal and cardiovascular changes of pregnancy carry disease progression. For this reason, it is important to screen and treat women with HHT before pregnancy in order to reduce morbidity and mortality. However, most women with HHT have a normal pregnancy. Most individuals with HHT are unaware of their diagnosis because in youth the only clinical manifestation is often epistaxis, AVMs could be asymptomatic for years or because no direct family members have previously been diagnosed. We present a case of HHT which had not previously been diagnosed in a young woman at 40 weeks of pregnancy, who came to our attention from the obstetric emergency room due touterine contractile activity.
Maiorana A, Ognibene E, Parisi G, Alio W, Incandela D, Forlani F, et al. Rendu- Osler-Weber Syndrome in Pregnancy: Case Report. J Clin Obstet Gynecol Infertil. 2017; 1(1): 1004.