An observational study in Haemorrhagic Hereditary Telangiectasia, sponsored by Hospital Italiano de Buenos Aires. Recruiting at 1 site in Argentina. Per ClinicalTrials.gov, last updated 2026-07-30.
Sponsored by Hospital Italiano de Buenos Aires · Observational
The purpose of this study is to create an institutional and population-based registry of Haemorrhagic Hereditary Telangiectasia with a prospective survey based on epidemiological data, risk factors, diagnosis, prognosis, treatment, monitoring and survival.
This study will also describe the occurrence of Haemorrhagic Hereditary Telangiectasia in the population of HIBA in the Central Hospital, as well as the characteristics of clinical presentation and evolution.
Haemorrhagic Hereditary Telangiectasia is a uncommon autosomic hereditary disorder caracterizad for recurrent epistaxis,cutaneomucous telangiectasias and arteriovenous malformations in diferent organs; brain, lung, liver and gastrointestinal are more often afected . Afect one in 5000-8000 individual in worldwide. HHT may produce important morbidity like brain absces, stroke, hemoptisis and cronic ferropenic anemia.
Molecular mechanism of this disorder are complex and still no fully dilucidated. The genes mutated in HHT encode endothelial cell-expressed proteins that mediate signalling by the transforming growth factor (TGF)b superfamily. Endoglin (HHT type I) and ACVRL-1 (HHT type 2) mutations are responsible in more than 80% of the individuals. Mutation of SMAD 4 protein (MADH4)cause HHT in association with juvenile polyposis. HHT may associated with primary pulmonary hypertension en more rare cases.
There are not HHT registry in Argentina and Latinamerican population. This registry may gader valious information in order to generate a better diagnosis and treatment of our population and others.
Patients with Haemorrhagic Hereditary Telangiectasia
Exclusion Criteria:
1. Denied to participated in the registry or inform consent process.
morbidity
Control visit every three month
Time frame: 1 year
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Telangiectasia, Hereditary Hemorrhagic→
Hospital Italiano de Buenos Aires