Macías HCP, Osorio VM, Lemus M

Language: Spanish
References: 5
Page: 217-222
PDF size: 250.65 Kb.

ABSTRACT

Background: Hereditary hemorrhagic telangiectasia or Osler Weber Rendu syndrome is an autosomal dominant multiorgan disorder caused by a genetic defect in the protein transforming growth factor, resulting in a fibrovascular dysplasia with multiple arteriovenous malformations accompanied by telangiectasia.
Case report: We report the case of a patient in the fifth decade of life, he began with gastrointestinal bleeding of undetermined origin of 1 year 8 month of evolution, with hospitalization in more than three times for secondary anemia, as well as a literature review of this disease.

REFERENCES

1. Fuchizaki U, Miyamori H, Kitagawa S, et al. Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber disease). Lancet 2003; 362: 1490-1494.

2. Haitjema T, Westerman C, Overtoom T, et al. Hereditary hemorrhagic telangectasia (Osler-Weber-Rendu disease): new insights in pathogenesis, complications, and treatment. Arch Intern Med 1996; 156: 714-719.

3. Synder LH, Doan LA. Is the homozygous form of multiple telangiectasia lethal? J Lab Clin Med 1944; 29: 1211-1216.

4. Mcallister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994; 8: 345-351.

5. Vincent P, Plauchu H, Hazan J, et al. A third locus for hereditary haemorragic telangiectasia maps to chromosome 12q. Hum Mol Genet 1995; 4: 945-949.