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OBJECTIVES: I. Collect data regarding the natural history of hereditary hemorrhagic telangiectasia (HHT).
II. Establish genotype-phenotype correlations in HHT. III. Create a database of information for researchers throughout the world.
PROTOCOL OUTLINE: Patients complete a self-administered natural history questionnaire in a multiple choice format. Questionnaire is completed by a population consisting of males and females of all ages and ethnic backgrounds.
Data are collected and made available to all researchers.
Primary Purpose: Screening
Hereditary Hemorrhagic Telangiectasia
Office of Rare Diseases (ORD)
Published on BioPortfolio: 2010-07-15T17:00:00-0400
OBJECTIVES: I. Evaluate migraine prophylaxis with soy protein isolate in patients with hereditary hemorrhagic telangiectasia. II. Assess whether soy protein isolate reduces the frequenc...
Hereditary hemorrhagic telangiectasia (HHT) is associated with recurrent epistaxis in 90% of cases. Good response to hormone treatment has been documented, although its use remains controv...
OBJECTIVES: I. Examine screening modalities for pulmonary vascular arteriovenous malformation (PAVM) in individuals with endoglin mutations. II. Examine the prevalence of cerebral arter...
The purpose of the study is to evaluate the safety and tolerability of pegylated interferon alpha-2b (PEG-Inton) in patients with severe complications related to Hereditary hemorrhagic tel...
OBJECTIVES: I. Evaluate the efficacy of octreotide, a somatostatin octapeptide analog, in decreasing gastrointestinal bleeding in patients with hormone-refractory hereditary hemorrhagic ...
We aimed to investigate if vascular endothelial growth factor (VEGF) and other angiogenic and inflammatory factors correlated with the clinical presentation in hereditary hemorrhagic telangiectasia (H...
Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases. To the best of our knowledge, we prese...
Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in TGFβ/BMP9 pathway genes and characterized by vascular malformations (VM) including arteriovenous malformations (AVM) in lung, liv...
Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes , , and Yet the genetic cause remains unknown for some families even after exhaus...
An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
A membrane glycoprotein and ANGIOGENESIS FACTOR that is expressed by cells of the VASCULAR ENDOTHELIUM; VASCULAR SMOOTH MUSCLE; and MONOCYTES. It functions as a co-receptor for TRANSFORMING GROWTH FACTOR BETA and modulates CELL ADHESION. Mutations in the endoglin gene are associated with cases of HEREDITARY HEMORRHAGIC TELANGIECTASIA.
A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME.
A species in the genus LAGOVIRUS which causes hemorrhagic disease, including hemorrhagic septicemia, in rabbits.
Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.