Hereditary Hemorrhagic Telangiectasia (HHT) is a multisystemic disease that affect a number of organs. Although the disease can manifest with catastrophic symptoms, diagnosis is not an easy matter. It requires a clinical suspicion due to the atypical and sometimes weakness and/or absence of symptoms, and requires the cooperation of a number of specialties (radiology, cardiology, pulmonary medicine, gastroenterology, ENT).
Definition: What is HHT
HHT involves recurrent epistaxis (nosebleeds), telangiectases, and multi-organ arteriovenous malformations (AVMs).
Original descriptions of familial epistaxis were made by Sutton in 1864 and Babington in 1865. The name Osler-Weber-Rendu originates from the researchers Henri Rendu, William Osler and Frederick Parkers Weber, who contributed in the description and understanding of the disease.
The term Hereditary Hemorrhagic Telangiectasia (HHT) was proposed in 1909 by F.M. Hanes.
The prevalence of HHT is estimated at 1 in 5,000 to 1 in 10,000 people, depending on geographic region.
It is an inherited developmental disorder of the vascular system, which is described by an absence of intervening capillaries in the affected areas, resulting in direct connections between arteries and veins.
The small, pink to red, pinpoint to pinhead-size lesions are called telangiectases.
Arteriovenous malformations are larger lesions that are greater than a few millimeters in diameter and sometimes up to several centimeters in diameter.
HHT is inherited in an autosomal dominant manner. Mutations of at least five genetic types are involved in its pathogenesis. However, 85% of all cases are due to the mutations of two genes (ENG-endoglin and ACVRL1/ALK1)
Clinical description of HHT
HHT is a progressively developing disease with a wide range of symptoms, which are related to age, affected organ, and type and extent of the manifestation.
The Hereditary Hemorrhagic Telangiectasia (HHT) Clinic is open every Wednesday 12:30 - 2:30. To book an appointment, call on +30 2104809150 or +30 2104809160..
ILIAS S. MOUTSIOS, M.D.
Internist, Internal Medicine Clinic Director, Metropolitan Hospital.