DIC as a Complication of HHT or Osler-Weber-Rendu Syndrome

Abstract

The possibility of disseminated intravascular coagulopathy (DIC) as a complication of hereditary hemorrhagic telangectasia (HHT) has been described in the past[1]. However, due to the low incidence of HHT, information on the topic is scarce. We present a case of HHT complicated by DIC to support the clinical awareness needed with regards to DIC resulting in bleeding as a presentation of HHT. A 72 year old female presented with a severe episode of epistaxis and was found to be in DIC. She had been suffering from recurrent episodes of epistaxis for over 5 years. Her past medical history included pulmonary embolus, COPD, hypertension and diverticulosis. Her family history included recurrent epistaxis in her father and son. Physical examination on presentation demonstrated a telangectetic lesion on the tongue and fingertips and dried blood in her right nares. Laboratory data revealed WBC 7.67, HCT 37, MCV 86.2, Platelets 114, PT 24, INR 2.1, Fibrinogen < 70, and DDimer >5250. BUN 8, Cr 0.8. Endoscopy performed for hematemesis confirmed gastric arterio-venous malformations (AVMs). CT angio of abdomen and chest demonstrated pulmonary, liver, and gastrointestinal tract AVMs. Small bowel capsule study confirmed gastric AVMs with no small bowel AVMs. Genetic testing demonstrates single nucleotid (A) deletion at position 364 of the ALK-1 gene causing a truncated ALK-1 protein. A clinical diagnosis of HHT was confirmed. This case adds to the literature in support of the clinical relevance of DIC as a complication of HHT. Furthermore, in this case it was a part of the acute presentation which led to the diagnosis of HHT. [1] Ann N Y Acad Sci, 1981;370:851–4