Institutional Registry of Haemorrhagic Hereditary Telangiectasia

Institutional Registry of Haemorrhagic Hereditary Telangiectasia


Lead Sponsor: Hospital Italiano de Buenos Aires

Source Hospital Italiano de Buenos Aires
Brief Summary

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.

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.

Overall Status Unknown status
Start Date June 2012
Completion Date December 2017
Primary Completion Date June 2017
Study Type Observational
Primary Outcome
Measure Time Frame
morbidity 1 year
Enrollment 250

Sampling Method: Probability Sample


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: All

Minimum Age: N/A

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Marcelo M Serra, MD Principal Investigator HHT Center of Excelence Hospital Italiano de Buenos Aires
Overall Contact

Last Name: Marcelo M Serra, MD

Phone: +541149590200

Phone Ext.: 4419

Email: [email protected]

Facility: Status: Contact: Contact Backup: Hospital Italiano de Buenos Aires Marcelo M Serra, MD +541149590200 4419 [email protected]
Location Countries


Verification Date

December 2015

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Hospital Italiano de Buenos Aires

Investigator Full Name: Diego Hernan Giunta, MD

Investigator Title: Marcelo Martin Serra

Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Cohort

Time Perspective: Prospective