Biomaterial Database

Telangiectasia and von Willebrand's disease in two families. 1978

C L Conlon, and R S Weinger, and P L Cimo, and J L Moake, and J D Olson

Two families are described with members who have both von Willebrand's disease and telangiectasias. Family A has four members in three consecutive generations that have both von Willebrand's disease and telangiectasias. von Willebrand's disease in this family is characterized by decreased ristocetin cofactor (FVIII-vWF), variably depressed factor VIII coagulant (FVIII-AHG), and factor VIII-related antigen (FVIII-AGN) levels. FVIII-AGN mobility on two-dimensional crossed immunoelectrophoresis was found to be normal. Four generations in Family B have von Willebrand's disease characterized by decreased FVIIII-AHG, FVIII-vWF, FVIII-AGN, and prolonged template bleeding times. Two members of this family also have telangiectasias and recurrent gastrointestinal bleeding. Results in these two families suggest an association between von Willebrand's disease and telangiectasia--perhaps a defect in vascular endothelial cell function.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D005169	Factor VIII	Factor VIII of blood coagulation. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin.	Coagulation Factor VIII,Factor VIII Clotting Antigen,Factor VIII Coagulant Antigen,Factor VIII Procoagulant Activity,Thromboplastinogen,Blood Coagulation Factor VIII,F VIII-C,Factor 8,Factor 8 C,Factor Eight,Factor VIIIC,Hyate-C,Hyatt-C,F VIII C,Hyate C,HyateC,Hyatt C,HyattC
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly
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