Abstract
Background:
Herediatry Hemorrhagic Telangiectasia (HHT), is also known as Osler-Weber-Rendu syndrome is an inherited familial disorder of vascular dysplasia with a variety of clinical manifestations including arteriovenous malformations of hepatic, pulmonary, cerebral circulation and with characteristic mucocutaneous telangiectasias. The underlying arteriovenous malformation may lead to recurrent and sometimes severe bleeding, of which epistaxis is the the most common. Excessive bleeding may in turn contribute to the development of severe iron deficiency anemia. Current management of excessive bleeding can be local therapy such as nasal cauterization versus systemic treatment in the form of iron infusions, red blood cell transfusions and angiogenesis inhibitors. Currently, there is no cure for HHT. Despite screening measures, most patients with HHT are unaware of their diagnosis. The incidence of HHT has also been subject to under-reporting. Currently, the United States lacks a formal registry for pateints with HHT. Other countries have initiated a registry to understand HHT in their institution. Given the significant morbidity associated with HHT, the purpose of this single institution, multidisciplinary study is to understand the prevelance and clinical characteristics of HHT and thus facilitate better treatment measures and continuity of care for patients with HHT.
Methods:
A retrospective study was made of all patients diagnosed with HHT at our institution from 2008 to 2014. Epidemilogical data, presence or absence of first degree relatives with HHT, visceral involvement, severity of epistaxis using a validated epistaxis severity scoring system, genetic testing for ENG or ACVRL1 gene mutation, and current local or systemic treatment were evaluated.
Results:
27 patients ranging from age of 11 to 78 years were diagnosed as HHT. Median age was 52. 15 patients were male and 12 patients were female. 6 pateints had ENG gene mutation and 1 patient had ACVRL1 gene mutation. 3 out of 6 patients with ENG gene mutation did not have significant iron deficiency anemia. 11 patients had more than one first degree relative with HHT. All patients had symptoms of epistaxis. 8 patients had more than 1 visceral involvement with gastrointestinal and pulmonary manifestations being the most common. 11 patients had pulmonary arteriovenous malformations, 4 had cerebral arteriovenous malformations, and 8 had gastrointestinal manifestaions. Majority of patients had nasal cauterization to control their nasal bleeding. Of the local treatments, 1 patient used intranasal bevacizumab. Of the systemic treatments, 1 patient used estrogen and 1 used tamoxifen and 1 used thalidomide. 8 patients received intravenous iron therapy with significant improvement in their symptoms. 7 patients has multiple red blood cell transfusions. The most common discipline to evaluate patients with HHT was otolaryngology, hematology and genetics department.
Conclusion:
This is the first single institution, multidisciplinary registry created to decribe the occurrence of HHT in our institution and to identify and understand the clinical presentation of HHT. This data will help improve better screening measures, diagnosis, treatment options and improve clinical care and outcomes for patients with HHT in our institution and also help facilitate a future multicenter registry.
Disclosures
No relevant conflicts of interest to declare.
Application of damage control resuscitation strategies to patients with severe traumatic hemorrhage: review of plasma to packed red blood cell ratios at a single institution
