Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].
Highlights
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000–1:10,000 [1,2]
One hundred and eighty-two members of the study cohort had a habitation in Hungary, with a predominance in the northeast at the time of the test (Figure 2a); the remainder were living in Austria, Germany, Great Britain and Italy
Eighty-two members of the study cohort had a habitation in Hungary, with a predominance in the northeast at the time of the test (Figure 2a); the remainder were living in Austria, Germany, Great Britain and Italy
Summary
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000–1:10,000 [1,2]. HHT is listed in both the capillary (telangiectasia subgroup) and the arteriovenous malformation (AVM) groups in the 2018 classification from the International Society for the Study of Vascular Anomalies (ISSVA) [3]. Telangiectases are mucocutaneous (1–2 mm in diameter), and AVMs are high-flow, solid organ arteriovenous shunts bypassing the intervening capillary bed [4]. Both telangiectases and AVMs show very characteristic localizations in HHT, reflected by the Curaçao criteria: 1. Major acute or chronic complications might be deduced through shunting (dyspnea, ischaemic strokes and brain abscesses by pulmonary rightto-left shunting, pulmonary hypertension and high output cardiac failure by left-to-right hepatic shunting, portal hypertension by hepatoportal shunting, encephalopathy by portohepatic shunting) and bleeding (hemorrhagic strokes, hemoptysis and anemia due to epistaxis or gastrointestinal bleeding) [6]
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