A study of a Caucasian family with variant von Willebrand's disease in association with vascular telangiectasia and haemoglobinopathy
Hanna, W.; Mccarroll, D.; Lin, D.; Chua, W.; Mcdonald, T.P.; Chen, J.; Congdon, C.; Lange, R.D.
Thrombosis and Haemostasis 51(2): 275-278
1984
ISSN/ISBN: 0340-6245 PMID: 6429886 Document Number: 236207
A family was identified which carries multi-hematological disorders, including type IIA von Willebrand's disease, vascular telangiectasia and a hemoglobinopathy (Hb S trait). In the affected individuals, the von Willebrand's disease varies in its expression from an asymptomatic form to a severe form, especially in those patients with telangiectasia. Some patients have vascular telangiectasia in the mucous membranes of the mouth and lips. In 2 patients, endoscopy disclosed telangiectasia in the mucous membranes of the gastrointestinal tract. All of the patients who had telangiectasia also had von Willebrand's disease. An incidental finding was the presence of an abormal Hb (Hb S) in some family members. The pattern of inheritance of the hemoglobinopathy was unrelated to the inheritance pattern of von Willebrand's disease. The presence of Hb S did not interfere with the aggregation of platelets in response to ristocetin.