[Defects in the prostaglandin system. II. Familial platelet-prostacyclin receptor defect (Wien-Hietzing defect)--pathogenetic significance for (early) development of atherosclerosis?].
A case is reported of a 10 year-old girl admitted to hospital because of severe intermittent claudication. Occlusion of the left popliteal artery was diagnosed. Since successful surgical intervention the patient has been symptom-free. No causative factor was detected for this premature occlusion. During intensive laboratory check-up an extreme diminution in sensitivity of the platelets to prostacyclin and a receptor defect were discovered. This defect seems to be genetically determined. The extent to which this as yet unreported platelet defect might have contributed to the development of atherosclerosis at such an early age is discussed.
Kaliman
J
J
Sinzinger
H
H
Staudacher
M
M
Mannheimer
E
E
D001161:Arteriosclerosis / Q000097:blood / Q000235:genetics*; D001780:Blood Coagulation Tests; D001792:Blood Platelets / Q000378:metabolism*; D002648:Child; D011464:Epoprostenol / Q000097:blood*; D005260:Female; D006801:Humans; D007383:Intermittent Claudication / Q000235:genetics; D010974:Platelet Aggregation; D011956:Receptors, Cell Surface / Q000235:genetics*; D044006:Receptors, Epoprostenol; D011982:Receptors, Prostaglandin / Q000235:genetics*; D013924:Thrombophlebitis / Q000235:genetics
D011956:Receptors, Cell Surface; D044006:Receptors, Epoprostenol; D011982:Receptors, Prostaglandin; D011464:Epoprostenol
Defekte im Prostaglandinsystem. II. Familiärer Plättchen-Prostacyclin-Rezeptor-Defekt (Defekt Wien-Hietzing)--pathogenetische Bedeutung für (frühzeitige) Entstehung der Atherosklerose?