Ces radiol. 2026, 80(2):97-108 | DOI: 10.55095/CesRadiol2026/020

Hereditary hemorrhagic telangiectasia: radiology as a key discipline in screening and effective careReview article

Jana Urbánková Rathouská^{1, 2}, Jan Raupach², Markéta Gančarčíková³, Vladimír Koblížek⁴, Pavel Žák⁵, Ladislav Douda⁶, Zdeněk Knížek^{7, 8}, Viktor Chrobok⁹, Karel Mědílek¹⁰, Libor Šimůnek¹¹, Mária Šenkeříková¹², Miroslav Lojík², Vendelín Chovanec², Ondřej Renc², Pavel Ryška², Antonín Krajina²

¹ Katedra biologických a lékařských věd, Farmaceutická fakulta UK, Hradec Králové

² Radiologická klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

³ Ústav klinické biochemie a diagnostiky, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

⁴ Plicní klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

⁵ IV. interní hematologická klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

⁶ II. interní gastroenterologická klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

⁷ Klinika otorinolaryngologie a chirurgie hlavy a krku, Nemocnice Pardubického kraje - Pardubická nemocnice

⁸ Fakulta zdravotnických studií, Univerzita Pardubice

⁹ Klinika otorinolaryngologie a chirurgie hlavy a krku, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

¹⁰ I. interní kardioangiologická klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

¹¹ Neurologická klinika, Lékařská fakulta UK a Fakultní nemocnice Hradec Králové

¹² Oddělení lékařské genetiky, Fakultní nemocnice Hradec Králové Korespondenční adresa:

Urbánková Rathouská J, Raupach J, Gančarčíková M, Koblížek V, Žák P, Douda L, Knížek Z, Chrobok V, Mědílek K, Šimůnek L, Šenkeříková M, Lojík M, Chovanec V, Renc O, Ryška P, Krajina A. Hereditary hemorrhagic telangiectasia: radiology as a key discipline in screening and effective care



Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) is an autosomal dominant inherited disorder with an estimated prevalence of approximately 1:5,000-1:8,000.

The disease results from disruption of genes encoding proteins of TGF-β/BMP-9 signaling pathway, which under physiological conditions ensures vascular stability and balanced proliferation of endothelial cells. Impairment of this pathway results in endothelial dysfunction, abnormal vascular development, and the formation of vascular malformations, as well as the development of fragile vessels prone to rupture. The disease is further characterized by the formation of unstable thrombi and an increased susceptibility to both venous and arterial thromboembolic events, particularly in the context of arteriovenous shunts facilitating paradoxical embolism.

The most common clinical manifestation of HHT is spontaneous and recurrent epistaxis, occurring in more than 95% of affected individuals. Cutaneous and mucosal telangiectasias are present in over 90% of patients. Other vascular manifestations include arteriovenous malformations (particularly involving the lungs, liver, and brain). Genetic testing is recommended in individuals who do not fully meet the diagnostic criteria, typically involving the ENG, ACVRL1, SMAD4, GDF2, or RASA1 genes. A major challenge of HHT is the considerable phenotypic variability, even among family members sharing the same genetic background. Early diagnosis is crucial for guiding appropriate screening strategies and preventing disease-related complications.

Prevention of complications and treatment of HHT are complex and often tailored to specific clinical manifestations, with particular emphasis on the treatment of anemia and iron deficiency resulting from chronic hemorrhage. In many cases, therapy relies on systemic antifibrinolytic and antiangiogenic agents. Additional treatment options include endoscopic ablative procedures, embolization techniques, and surgical interventions. An interdisciplinary approach is essential for optimal patient care. Radiologists play a key role in the diagnosis and treatment of HHT.

Keywords: hereditární hemoragická teleangiektázie, arteriovenózní malformace, tromboembolické komplikace, hemoragie a anemie, multidisciplinární přístup.

Accepted: March 17, 2026; Published: July 1, 2026  Show citation