Hereditary Macrothrombocytopenia and Pregnancy

Summary

Introduction. Hereditary macrothrombocytopenias (HM) are a group of infrequent disorders characterized by hereditary giant platelets. Little has been published about the course of these diseases during pregnancy and delivery. Subjects and methods. Forty consecutive thrombocytopenic pregnant women were studied. Platelet count, mean platelet volume and blood smear examination were performed. Platelet antibodies were studied by immunofluorescence. Familial study, bleeding time, ultrastructural platelet examination, a von Willebrand disease screening and aggregation tests were carried out when HM was suspected. Results. Four cases of HM were diagnosed. Giant platelets were observed in all cases, with the typical ultrastructural pattern. Dohle-like cytoplasmic inclusions in granulocytes were observed in one case. Platelet antibodies were detected in only one case. No prophylactic measures to prevent haemorrhage were adopted, and all patients underwent vaginal deliveries. Haemorrhagic events were absent in both mothers and children. Conclusions. The prevalence of HM in pregnant trombocytopenic women is higher than assumed. Prophylactic treatment should be avoided in the absence of a history of haemorrhagic complications and obstetrical risk factors.

• References

• 1 Pillai M. Platelets and pregnancy. Br J Obst Gynaecol 1993; 100: 201-204
• 2 Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelets syndrome: a new variant of hereditary macrothrombocytopenia with leukocite inclusions. Blut 1990; 61: 282-288
• 3 Peterson LC, Venkateswara R, Crosson JT, White JG. Fechtner Syndrome - A variant of Alport’s Syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 1985; 65: 397-406
• 4 Najean Y, Lecompte T. Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. Br J Haematol 1990; 74: 203-208
• 5 von dem Borne AEG, Helmerhost FM, van Leeuwen EF, Pegels JG, von Riesz E, Engelfriet CP. Autoimmune thrombocytopenia. Detection of platelet autoantibodies with the suspension immunofluorescence test. Br J Haematol 1980; 45: 319-326
• 6 Pujol-Moix N. Estudio de las plaquetas por microscopfa electronica de transmision. In: Trombocitopenias Pujol-Moix N. ed Mosby/Doyma Libros; Madrid: 1995: 103-111
• 7 Heynen MJ, Blockmans RL, Verwilghen Vermylen J. Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron-microscopic observations on platelets and megakaryocytes. Br J Haematol 1988; 70: 441-448
• 8 Altes A, Muniz-Diaz E, Pujol-Moix N, Arilla M, Ibanez M, Parra J, Fontcuberta J, Domingo-Albos A, Puig LL, Madoz P. Trombocitopenia de supuesto mecanismo inmune en gestantes. Estudio de 40 casos. Sangre 1994; 39: 17
• 9 Pujol-Moix N, Muniz-Dfaz E, Hernandez A, Romero MA, Puig J. Fechtner Syndrome variant: A new family with mild Alport’s manifestations. Br J Haematol 1994; 86: 686-687
• 10 Burrows RF, Kelton JG. Incidentally detected thrombocytopenia in healthy mothers and their infants. N Engl J Med 1988; 319: 142-145
• 11 Burrows RF, Kelton JG. Thrombocytopenia at delivery: A prospective survey of 6715 deliveries. Am J Obst Gynaecol 1990; 162: 731-734
• 12 Burrows RF, Kelton JG. Fetal thrombocytopenia and its relation to maternal thrombocytopenia. N Engl J Med 1993; 329: 1463-1466
• 13 Samuels P, Bussel JB, Braitman LE, Tomaski A, Druzin ML, Mennuti MT, Cines DB. Estimation of the risk of thrombocytopenia in the offspring of pregnant women with presumed immune thrombocytopenic purpura. N Engl J Med 1990; 323: 229-235
• 14 Hohlfeld P, Forestier F, Kaplan C, Tissot JA, Daffos F. Fetal thrombocytopenia: A retrospective survey of 5,194 fetal blood samplings. Blood 1994; 84: 1851-1856
• 15 Von Behrens WE. Mediterranean Macrothrombocytopenia. Blood 1975; 46: 199-208
• 16 Gershoni-Baruch R, Baruch Y, Viener A, Llichtig C. Fechtner Syndrome: Clinical and genetic aspects. Am J Med Gen 1988; 31: 357-367
• 17 Greinacher A, Mueller-Eckhardt C. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocites. Blut 1990; 60: 53-60
• 18 Siddiqui T, Lammert N, Danier P, Luke M. Immune Thrombocytopenia and May-Hegglin anomaly during pregnancy. Journal of Florida Medical Association 1991; 78: 88-92
• 19 Cattaneo M, Mannuccio-Mannucci P. Desmopresin in the treatment of congenital and acquired defects of platelet functions. In: Desmopressin in bleeding disorders Mariani G. ed Plenum Press; New York: 1993: 155-160
• 20 Gausis N, Fortune DW, Whiteside MG. May-Hegglin Anomaly, case report and chromosome studies. British Journal of Haematology 1969; 16: 619-620
• 21 Duff P, Jackson MT. Pregnancy complicated by rhesus sensitization and the May-Hegglin Anomaly. Obstetrics and Gynecology 1985; 65: 7S-10S
• 22 Landy HJ, Gumer A, Ludomirsky A, Reilly R. May-Hegglin Anomaly in pregnancy. A case report. The Journal of Reproductive Medicine 1987; 4: 309-312
• 23 Chatwani A, Bruder N, Shapiro T, Reece EA. May-Hegglin anomaly: A rare case of maternal thrombocytopenia in pregnancy. Am J Obstet Gynecol 1992; 166: 143-144