Haemorrhagic Hereditary Telangiectasia Clinical Trial
Official title:
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
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 arent HHT register 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.
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Observational Model: Cohort, Time Perspective: Prospective