Common bleeding disorders affecting individuals with Hereditary Hemorrhagic Telangiectasia

Abstract

Purpose: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder affecting vasculature in different organ systems; seen at a rate of approximately 1:5000 in North America. Complications, with significant increases in health service utilization, arise from bleeding and shunts, and are particularly problematic in the lung and liver. Although these patients tend to chronically bleed from the GI tract and nasal cavities, a single bleed from arterio-venous malformations in the lungs or brain can have serious health implications and may be fatal. Bleeding due to vascular wall fragility in HHT patients can be further complicated with a concomitant bleeding disorder. Methods: The proportion of adult patients seen in the Edmonton HHT center with a concomitant bleeding disorder, as assessed by blood test results for Factor VIII and related factors (Ristocetin Cofactor), Factor IX and Factor XI, was determined in a retrospective, single centre study. Results: Of 77 individuals with HHT, four had below normal values of von Willebrand Factor, Ristocetin Cofactor or Factor VIII. Two patients had laboratory parameters diagnostic of a bleeding disorder, accounting for 2.6% of confirmed HHT subjects. These results indicate that establishing screening for bleeding disorders in HHT centers is important in managing bleeding symptomatology. Conclusions: In individuals with HHT, the presence of a second bleeding disorder can have significant clinical implications on patient management and health care utilizations. This paper highlights areas that need to be reviewed with respect to best practice protocols for the management of HHT patients.

Neurologic Complications in Hereditary Hemorrhagic Telangiectasia with Pulmonary Arteriovenous Malformations: A Systematic Review

“…Inherent in this genetic disorder, patients with HHT often exhibit bleeding from both epistaxis and / or gastrointestinal tract along with liver involvement which can also commonly occur. 1,2,6 Six different genes have been identified, where pathogenic mutations can result in HHT, most of which involve the endoglin ( ENG ) and ACVRL genes. The majority of HHT patients have mutations in the endoglin and activin type-II-like receptor kinase 1 ( ACVRL1 ) gene causing HHT type 1 and HHT type 2, respectively.…”

Cesárea en una embarazada con telangiectasia hemorrágica hereditaria: a propósito de un caso

“…En una muestra estudiada por LaBranche y cols. (19), alrededor de un 2,6 % de pacientes con HHT presentaron alguna afectación hemorrágica asociada.…”

Prospective pilot study of Floseal® for the treatment of anterior epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT)

“…This manifests as mucocutaneous telangiectasias and visceral arteriovenous malformations (AVM). The prevalence of HHT is 1 in 5000–10,000 people, with some geographic variability [1–3]. The most common symptom that patients with HHT experience is epistaxis, eventually affecting more than 98% of adults [1, 4].…”