MYH9-Related Platelet Disorders

  • Sharon Orbach-Zinger
  • Atara Davis
  • Alexander Ioscovich


Myosin heavy chain 9 (MYH9)-related platelet disorders incorporate a group of four, inherited thrombocytopenic syndromes, May-Hegglin anomaly (MHA), Epstein syndrome (EPS), Fechtner syndrome (FTS), and Sebastian platelet syndrome (SPS).

The syndromes are characterized by giant platelets, thrombocytopenia, and variable bleeding symptoms. There is a wide variability in presenting symptoms, and although platelet function is generally normal, severe bleeding is sometimes observed.

Due to the infrequency of the disease, it is difficult to evaluate the maternal and fetal risk. However, prior reports suggest that delivery and pregnancy are not associated with significant hemorrhaging in parturients with MYH9.

Early diagnosis of MYH9 is essential for optimal postpartum outcomes. Therefore, MYH9 should be suspected in patients with low platelet counts, especially in cases with genetic history of thrombocytopenia, mean platelet volume larger than 12 fl, and thrombocytopenia which is unresponsive to corticosteroids.

Clinical management of these parturients is complex and requires a multidisciplinary approach. In parturients with prior bleeding, hemostatic coverage should be initiated for mild hemorrhage treatment and platelet transfusions for severe bleeding.

While it remains unclear which mode of delivery will provide optimal postpartum outcomes, care should be taken to reduce the risk of bleeding and perineal trauma.

Anesthetic management of these parturients should include a full peripartum anesthetic evaluation of clinical bleeding, and manual platelet count should be performed for these parturients.


May-Hegglin anomaly Epstein syndrome Fechtner syndrome Sebastian platelet syndrome and pregnancy 


  1. 1.
    Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009;35(2):189–203.CrossRefGoogle Scholar
  2. 2.
    Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, et al. Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease. Acta Haematol. 2013;129(2):106–13.CrossRefGoogle Scholar
  3. 3.
    Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore). 2003;82(3):203–15.Google Scholar
  4. 4.
    Kawamoto S, Adelstein RS. Chicken nonmuscle myosin heavy chains: differential expression of two mRNAs and evidence for two different polypeptides. J Cell Biol. 1991;112(5):915–24.CrossRefGoogle Scholar
  5. 5.
    Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet. 2000;67(5):1121–8.CrossRefGoogle Scholar
  6. 6.
    Toothaker LE, Gonzalez DA, Tung N, Lemons RS, Le Beau MM, Arnaout MA, et al. Cellular myosin heavy chain in human leukocytes: isolation of 5′ cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation. Blood. 1991;78(7):1826–33.PubMedGoogle Scholar
  7. 7.
    Zetterberg E, Carlsson Alle MS, Najm J, Greinacher A. Thrombin generation in two families with MYH9-related platelet disorder. Platelets. 2016;27(3):264–7.CrossRefGoogle Scholar
  8. 8.
    Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69(5):1033–45.CrossRefGoogle Scholar
  9. 9.
    Althaus K, Greinacher A. MYH-9 related platelet disorders: strategies for management and diagnosis. Transfus Med Hemother. 2010;37:260–7.CrossRefGoogle Scholar
  10. 10.
    Fishman EB, Connors JM, Camann WR. Anesthetic management of seven deliveries in three sisters with the May-Hegglin anomaly. Anesth Analg. 2009;108(5):1603–5.CrossRefGoogle Scholar
  11. 11.
    Hussein BA, Gomez K, Kadir RA. May-Hegglin anomaly and pregnancy: a systematic review. Blood Coagul Fibrinolysis. 2013;24(5):554–61.CrossRefGoogle Scholar
  12. 12.
    Pelzer U, Braig-Scherer U, Riess H. Fechtner syndrome—a myosin heavy chain 9 disorder—and pregnancy. Int J Gynaecol Obstet. 2010;109(2):163–4.CrossRefGoogle Scholar
  13. 13.
    Kotelko DM. Anaesthesia for caesarean delivery in a patient with May-Hegglin anomaly. Can J Anaesth. 1989;36(3 Pt 1):328–30.CrossRefGoogle Scholar
  14. 14.
    Scott JR, Cruikshank DP, Kochenour NK, Pitkin RM, Warenski JC. Fetal platelet counts in the obstetric management of immunologic thrombocytopenic purpura. Am J Obstet Gynecol. 1980;136(4):495–9.CrossRefGoogle Scholar
  15. 15.
    Fayyad AM, Brummitt DR, Barker HF, Spooner SF. May-hegglin anomaly: the role of aspirin in the treatment of this rare platelet disorder in pregnancy. BJOG. 2002;109(2):223–4.PubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Sharon Orbach-Zinger
    • 1
  • Atara Davis
    • 1
  • Alexander Ioscovich
    • 2
  1. 1.Department of Anesthesia, Rabin Medical CenterBeilinson HospitalPetach TikvahIsrael
  2. 2.Department of Anesthesia, Shaare Zedek Medical CenterHebrew UniversityJerusalemIsrael

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