May-Hegglin Anomaly Treatment & Management

  • Author: Vikramjit S Kanwar, MD, MBA, MRCP(UK), FAAP; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Mar 29, 2012
 

Medical Care

The literature is conflicting, but most patients with May-Hegglin anomaly (MHA) do not appear to have clinically significant bleeding problems, and specific treatment is not required. Corticosteroids and splenectomy are ineffective. In rare patients with severe bleeding, platelet transfusion may be required.

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Surgical Care

Patients with May-Hegglin anomaly who undergo normal vaginal or Cesarian delivery do not appear to have a significantly increased risk of bleeding.[21, 22]

For patients with May-Hegglin anomaly scheduled for surgery, consult a hematologist, obtain a careful personal and family history of bleeding tendency, and perform a manual platelet count to determine the actual risk for bleeding. Intravenous desmopressin acetate (DDAVP) may be valuable. Routine prophylactic platelet transfusions are not usually indicated, and ensuring that platelets are available is prudent, in case unexpected bleeding occurs. A patient with May-Hegglin anomaly who successfully underwent craniotomy after DDAVP infusion alone has been described.[13]

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Consultations

Consult a hematologist before patients undergo surgery or vaginal delivery and in patients who experience severe trauma.

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Activity

Depending on the degree of thrombocytopenia and family history, individuals may be at an increased risk for bleeding, and refraining from participation in contact or collision sports may be prudent.

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Contributor Information and Disclosures
Author

Vikramjit S Kanwar, MD, MBA, MRCP(UK), FAAP  Associate Professor of Pediatric Hematology and Oncology, Department of Pediatrics, Albany Medical Center; Faculty, Alden March Bioethics Institute

Vikramjit S Kanwar, MD, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and Royal College of Physicians of the United Kingdom

Disclosure: Nothing to disclose.

Specialty Editor Board

Gary R Jones, MD  Associate Medical Director, Clinical Development, Berlex Laboratories

Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Gary D Crouch, MD  Associate Professor, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Uniformed Services University of the Health Sciences

Gary D Crouch, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Hematology

Disclosure: Nothing to disclose.

Samuel Gross, MD  Professor Emeritus, Department of Pediatrics, University of Florida; Clinical Professor, Department of Pediatrics, University of North Carolina; Adjunct Professor, Department of Pediatrics, Duke University

Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Frank E. Shafer, MD, to the development and writing of this article.

References

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  2. Seri M, Cusano R, Gangarossa S, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. Sep 2000;26(1):103-5. [Medline].

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  10. Noris P, Spedini P, Belletti S, et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May- Hegglin anomaly): clinical and laboratory findings. Am J Med. Apr 1998;104(4):355-60. [Medline].

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  13. Sehbai AS, Abraham J, Brown VK. Perioperative management of a patient with May-Hegglin anomaly requiring craniotomy. Am J Hematol. Aug 2005;79(4):303-8. [Medline].

  14. Antonio G, Silvia V, Emanuela B, Fabrizio F. Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). J Thromb Thrombolysis. Nov 2011;32(4):474-7. [Medline].

  15. Seri M, Pecci A, Di Bari F, 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). May 2003;82(3):203-15. [Medline].

  16. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J. 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. Nov 2001;69(5):1033-45. [Medline].

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  19. Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol. Mar 2007;78(3):220-6. [Medline].

  20. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest. Jan 2003;83(1):115-22. [Medline].

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  22. Chabane H, Gallais Y, Pathier D, Tchernia G, Gaussem P. Delivery management in a woman with thrombocytopenia of the May-Hegglin anomaly type. Eur J Obstet Gynecol Reprod Biol. Nov 2001;99(1):124-5. [Medline].

  23. DiMichele DM, Hathaway WE. Use of DDAVP in inherited and acquired platelet dysfunction. Am J Hematol. Jan 1990;33(1):39-45. [Medline].

 
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Blood smear (original magnification X2000) in a patient with May-Hegglin anomaly (MHA) demonstrates a characteristic giant platelet with poorly defined granulation. A normal-sized platelet is also present. The trilobed neutrophil contains a large, well-defined, basophilic, peripherally placed cytoplasmic inclusion body (resembling a Döhle body). Used with permission from Little, Brown.
Table. Clinical Features of MYH9 -Related Thrombocytopenias[15]
ConditionMacrothrombocytopeniaGranulocyte inclusionsNephritis and DeafnessCataracts
MHAYesLinear DöhlelikeNoNo
Epstein syndromeYesAbsent or faintYesNo
Fechtner syndromeYesSpherical granulesYesYes
Sebastian syndromeYesSpherical



granules



NoNo
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