Hereditary Hemorrhagic Telangiectasia - The Multiple Facets of A Rare Disorder

Introduction: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant disorder characterized by mucosal and cutaneous telangiectasia and systemic vascular malformations. HHT can be diagnosed using the Curaçao criteria. If at least three criteria are met, the diagnosis of HHT is considered definite. Purpose: The objective of this study was to describe the clinical characteristics, management and complications of patients diagnosed with HHT and monitored in the Internal Medicine and Hematology Departments of the Fundeni Clinical Institute. Method: A descriptive and retrospective study consisting of 24 patients over ten years (2014-2024). Results: Out of 24 patients, 20 patients were women with a median age at the onset of symptoms of 28.3 years and at first admission in a clinical unit of 45.5 years. In 7 patients, genetic testing revealed mutations in the ACVRL1 and ENG genes. The most common reason for admission was nasal bleeding (91.6 %). The vascular malformations involved multiple visceral organs with the most common sites being the liver (50%), gastrointestinal tract (25%), lung (12.5%), pancreas (8.3%).. The management of the patients included blood transfusions, iron supply, argon plasma coagulation, radiological embolisation and liver transplantation. The main complications were due to upper gastrointestinal bleeding, heart failure and thrombosis. Conclusions: HHT is an extremely heterogenous disease. Subjects from the same family often present with different sites of vascular malformations. At the moment, only symptomatic options of treatment are available in referral centers in our country. Angiogenesis inhibitors are considered prospective therapeutic options that have shown promising results in various studies. Early identification and treatment of symptoms and complications are crucial for enhancing the quality of life for individuals with HHT.