Biomaterial Database

[Hereditary hemorrhagic telangiectasia associated with von Willebrand's disease; literature review]. 1991

Y Sugiura, and Y Kawashima, and K Watanabe

Department of Internal Medicine, Tachikawa National Hospital.

A 23-year-old female was admitted to our hospital in July 1987, because of cutaneous macular telangiectasia on her extremities and hypermenorrhea. In 1983, she began to notice small red spots on her palms. During next several years, these telangiectasia increased in number and spread all over her body. In 1986, she had a history of melena and prolonged bleeding after dental extraction. Her lower legs have turned red purple during the gait for a long time. Her older brother and two paternal cousins have experienced frequent epistaxis. The hemostatic laboratory data revealed prolonged IVY bleeding time and APTT, impaired capillary fragility, decreased vWf:Ag and VIII:C levels, depressed Rcof and severe decreased platelet adhesiveness, vWf mobility on two-dimensional crossed immunoelectrophoresis was normal. Platelet aggregation was reduced after addition of ristocetin and collagen. This case was diagnosed Osler-Weber-Rendu disease (Osler disease) associated with von Willebrand's disease (vW disease) type I. Previously, 28 Cases (8 families) with these two disease association have been reported. These disease seems to coexist as an inevitable consequence, because the disorder of vascular endothelial cells where von Willebrand factors are synthesized is a common pathogenetic factor in Osler disease. It is considered that such a case is secondary vW disease. Moreover, previous reports of Osler disease associated with various hemostatic defects are reviewed.

UI	MeSH Term	Description	Entries
D010974	Platelet Aggregation	The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS.	Aggregation, Platelet
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D013683	Telangiectasia, Hereditary Hemorrhagic	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.	Osler-Rendu Disease,Rendu-Osler-Weber Disease,Weber-Osler Disease,Weber-Osler Syndrome,Hereditary Hemorrhagic Telangiectasia,Osler's Disease,Osler-Rendu-Weber Disease,Osler-Weber-Rendu Syndrome,Telangiectasia, Hereditary Hemorrhagic, Type 1,Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber,Hemorrhagic Telangiectasia, Hereditary,Osler Disease,Osler Rendu Disease,Osler Rendu Weber Disease,Osler Weber Rendu Syndrome,Rendu Osler Weber Disease,Weber Osler Disease,Weber Osler Syndrome
D014842	von Willebrand Diseases	Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.	Angiohemophilia,Hemophilia, Vascular,von Willebrand Disease,Vascular Pseudohemophilia,Von Willebrand Disorder,Von Willebrand's Factor Deficiency,von Willebrand Disease, Recessive Form,von Willebrand's Disease,von Willebrand's Diseases,Angiohemophilias,Disorder, Von Willebrand,Pseudohemophilia, Vascular,Pseudohemophilias, Vascular,Vascular Hemophilia,Vascular Hemophilias,Vascular Pseudohemophilias