title: [May-Hegglin anomaly: further studies on thrombocyte dysfunction].
abstract: The May-Hegglin anomaly is an extremely rare, autosomal dominant inherited disorder characterized by alterations in white cells and in blood platelets. The granulocytes show basophilic inclusion bodies of no clinical importance. Usually moderate thrombocytopenia with variable platelet size, including giant platelets, is also found. Clinically a mild hemorrhagic diathesis may occur. We report on a so far asymptomatic patient from the second family described by Hegglin et al. in 1964 [1] who had to be treated for repeated life-threatening bleedings. A moderate prolongation of bleeding time was found, corresponding to the reduced platelet count; platelet aggregation induced by ADP, collagen, ristocetin or arachidonic acid was not impaired. Therefore, there is at present no evidence of a congenital platelet function defect in the May-Hegglin anomaly. The bleeding time improved temporarily in our patient on administration of DDAVP (Minirin); platelet substitution is indicated in special situations only.
authors.affiliation: Medizinische Klinik, Kantonsspital Münsterlingen.
authors.forename: K
authors.initials: K
authors.lastname: Mayer
authors.forename: O
authors.initials: O
authors.lastname: Schildknecht
authors.forename: A
authors.initials: A
authors.lastname: von Felten
mesh_terms: D000328:Adult; D001760:Bleeding Time; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006474:Hemorrhagic Disorders / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010974:Platelet Aggregation / Q000187:drug effects / Q000235:genetics; D010979:Platelet Function Tests; D013921:Thrombocytopenia / Q000097:blood / Q000188:drug therapy / Q000235:genetics*
chemical_list: D003894:Deamino Arginine Vasopressin