Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Overview

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.

Study Type

• Study Type: Observational
• Study Design
  • Time Perspective: Prospective
• Study Primary Completion Date: June 2017

Detailed Description

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.

Clinical Trial Outcome Measures

Primary Measures

• morbidity
  • Time Frame: 1 year
  • Control visit every three month

Participating in This Clinical Trial

Inclusion Criteria

1. Patients with HHT defined. 2. Followed in Unidad HHT of Hospital Italiano de Buenos Aires. Exclusion Criteria:

1. Denied to participated in the registry or inform consent process.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

• Lead Sponsor
  • Hospital Italiano de Buenos Aires
• Provider of Information About this Clinical Study
  • Principal Investigator: Diego Hernan Giunta, MD, Marcelo Martin Serra – Hospital Italiano de Buenos Aires
• Overall Official(s)
  • Marcelo M Serra, MD, Principal Investigator, HHT Center of Excelence Hospital Italiano de Buenos Aires
• Overall Contact(s)
  • Marcelo M Serra, MD, +541149590200, marcelo.serra@hospitalitaliano.org.ar