MAY-HEGGLIN-ANOMALY - FURTHER INVESTIGATI ONS INTO THE PLATELET-FUNCTION DISORDER

The May-Hegglin anomaly is an extremely rare, autosomal dominant inher ited disorder characterized by alterations in white cells and in blood platelets. The granulocytes show basophilic inclusion bodies of no cl inical importance. Usually moderate thrombocytopenia with variable pla telet size, including giant platelets, is also found. Clinically a mil d 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 mode rate prolongation of bleeding time was found, corresponding to the red uced platelet count; platelet aggregation induced by ADP, collagen, ri stocetin or arachidonic acid was not impaired. Therefore, there is at present no evidence of a congenital platelet function defect in the Ma y-Hegglin anomaly. The bleeding time improved temporarily in our patie nt on administration of DDAVP (Minirin(R)); platelet substitution is i ndicated in special situations only.