An Autosomal Dominant Disorder

995 WordsNov 20, 20144 Pages
Recurrent epistaxis is one of the diagnostic criteria for Hereditary Hemorrhagic Telangiectasia (HHT). HHT is an autosomal-dominant disorder that is also depicted by skin and mucosal telangiectasias. Feared complications of HHT include rupture of pulmonary or cerebral arteriovenous malformations (AVM). The etiology of HHT is most often due to genetic mutations that impair normal angiogenesis. We report a case of suspected HHT in a 49-year-old female, with a first-degree relative with HHT, and a history of recurrent epistaxis status post coiling of left and right internal maxillary arteries. Of special note, her initial hemoglobin level was 1.7, but she was alert and walking at triage. Her presentation was consistent with multiple prior admissions in the past three years. Patients with suspected hereditary telangiectasia should receive a comprehensive work up, including serum studies, imaging, and possibly genetic testing. Treatment should focus on both acute management of the bleed and prevention of future complications. Introduction: Hereditary Hemorrhagic Telangiectasia, or Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterized by recurrent epistaxis and small arteriovenous malformations known as telangiectasias . Telangiectasias can rupture with minimal or no trauma, and resultant bleeds can be difficult to manage. The epistaxis can lead to chronic anemia in a small set of afflicted patients. The estimated prevalence of HTT is estimated to be one
Open Document