Hereditary Hypoplastic Thrombocytopenia

Abstract

SUMMARYThree patients, a mother and two sons, suffering from thrombocytopenic purpura due to deficient production of blood platelets are presented. The disease is thought to be of genetic origin and is called hereditary hypoplastic thrombocytopenia.The number of megacaryocytes was normal or most often moderately increased in the bone marrow, but signs of active platelet production were scarce. The platelet survival determined by means of radiochromium was found to be normal. Platelet antibodies could not be demonstrated (only one of the cases studied). Treatment with corticosteroids or with a combination of anabolic steroids and corticosteroids seemed to be ineffective. In one of the cases splenectomy was performed. A transient normalization of the platelet count was obtained, but the bleeding tendency soon recurred and the patient died, possibly from a pneumococcal infection. In one of the patients certain concomitant malformations were present (bilateral aplasia of the twelfth rib, mild hydronephrosis on the right side). The condition can be regarded as a subgroup of the congenital hypoplastic thrombocytopenia.