Letter to the Editor

Digital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome

Anna Mrzljak orcid.org/0000-0001-6270-2305 ; Department of Gastroenterology and Hepatology, University Hospital Center Zagreb, Zagreb, Croatia 2School of Medicine, University of Zagreb, Zagreb, Croatia
Jelena Popić ; School of Medicine, University of Zagreb, Zagreb, Croatia 3Department of Radiology, Merkur University Hospital, Zagreb, Croatia
Suzana Ožanić Bulić ; Department of Peadiatrics, Children’s Hospital Zagreb, Zagreb, Croatia 5Croatian Catholic University, Zagreb, Croatia

Abstract

Hereditary hemorrhagic telangiectasia (HHT) (Osler-
Weber-Rendu Syndrome) is a rare autosomal dominant
vascular disorder characterized by the presence
of multiple arteriovenous malformations (AVMs) and
recurrent bleeding episodes. The diagnosis is based
on the Curacao criteria: (i) spontaneous recurrent epistaxis,
(ii) mucocutaneous telangiectasia, (iii) AVMs of
visceral organs, and (iv) first degree relatives with a
similar condition (1). Due to a common genetic pathway
and SMAD4 gene mutation, juvenile polyposis
syndrome (JPS) may coexist with HHT (2). The disease
burden is high in overlapping HHT/JPS, but digital
clubbing may be the only physical finding. Continuous
meticulous management may improve the quality
of life and reduce the risk of complications

Keywords

Hrčak ID:

274448

URI

https://hrcak.srce.hr/274448

Publication date:

17.3.2021.

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