eMedicine Specialties > Pediatrics: General Medicine > Hematology

May-Hegglin Anomaly: Treatment & Medication

Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP, Associate Professor of Pediatric Hematology-Oncology, Department of Pediatrics, Albany Medical Center; Faculty, Alden March Bioethics Institute
Coauthor(s): Frank E Shafer, MD, Associate Professor, Department of Pediatrics, Section of Hematology-Oncology, St. Christopher's Hospital for Children, MCP Hahnemann University School
Contributor Information and Disclosures

Updated: Aug 1, 2008

Treatment

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.

Surgical Care

Patients with MHA who undergo normal vaginal or Cesarian delivery do not appear to have a significantly increased risk of bleeding.19,20

For patients with MHA 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 MHA who successfully underwent craniotomy after DDAVP infusion alone has been described.12

Consultations

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

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.

Medication

Most patients with May-Hegglin anomaly (MHA) do not have clinically significant problems with bleeding and do not require treatment. Corticosteroids and splenectomy are ineffective. On the rare occasions when patients have severe bleeding, platelet transfusions may be required. Prophylactic platelet transfusions are not routinely used before surgery and delivery. Intravenous desmopressin has been used preoperatively,12 although the mechanism of action is uncertain.21

Pituitary hormone

Use of desmopressin, a synthetic analogue of vasopressin, may be used before surgery.


Desmopressin acetate (DDAVP)

Releases von Willebrand protein from endothelial cells. Improves bleeding time and hemostasis in patients with some vWf (mild and moderate von Willebrand disease without abnormal molecular forms of von Willebrand protein). Effective in uremic bleeding. Tachyphylaxis usually develops after 48 h, but the drug can be effective again after several days. Nasal solution available as 0.1 mg/mL (10 mcg/0.1 mL).

Adult

IV: 0.3 mcg/kg IV
Intranasal: >50 kg: 2 sprays intranasally; each spray delivers 0.1 mL (10 mcg)

Pediatric

0.3 mcg/kg IV

Coadministration with demeclocycline and lithium decrease effects; fludrocortisone and chlorpropamide increase effects of desmopressin; loperamide increases bioavailability and absorption of desmopressin, thus potentially increasing effect

Documented hypersensitivity; platelet-type von Willebrand disease

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Avoid overhydration in patients using desmopressin to benefit from its hemostatic effects; may cause severe hyponatremia that can result in seizures and death; caution in patients at risk for water intoxication with hyponatremia (eg, habitual or psychogenic polydipsia, patient taking drugs that cause dry mouth or increased thirst)

More on May-Hegglin Anomaly

Overview: May-Hegglin Anomaly
Differential Diagnoses & Workup: May-Hegglin Anomaly
Treatment & Medication: May-Hegglin Anomaly
Follow-up: May-Hegglin Anomaly
Multimedia: May-Hegglin Anomaly
References
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References

  1. Oski FA, Naiman JL, Allen DM, Diamond LK. Leukocytic inclusions--Dohle bodies--associated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature. Blood. Dec 1962;20:657-67. [Medline].

  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].

  3. Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut. Nov 1990;61(5):282-8. [Medline].

  4. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med. Mar 1972;52(3):299-310. [Medline].

  5. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood. Feb 1985;65(2):397-406. [Medline].

  6. Kunishima S, Kojima T, Tanaka T, et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum Genet. Nov 1999;105(5):379-83. [Medline].

  7. Burns ER. Platelet studies in the pathogenesis of thrombocytopenia in May-Hegglin anomaly. Am J Pediatr Hematol Oncol. Winter 1991;13(4):431-6. [Medline].

  8. Mayer K, Schildknecht O, von Felten A. [May-Hegglin anomaly: further studies on thrombocyte dysfunction]. Schweiz Med Wochenschr. Jun 28 1997;127(26):1134-40. [Medline].

  9. 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].

  10. Pujol-Moix N, Kelley MJ, Hernandez A, Muniz-Diaz E, Espanol I. Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders. Haematologica. Mar 2004;89(3):330-7. [Medline].

  11. Ishii A, Honnma T, Ishida M, Sano F, Hamada H, Takayanagi M. Pregnancy complicated by the May-Hegglin anomaly. J Perinat Med. 1993;21(3):247-52. [Medline].

  12. 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].

  13. 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].

  14. 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].

  15. Otsubo K, Kanegane H, Nomura K, Ogawa J, Miyawaki T, Kunishima S. Identification of a novel MYH9 mutation in a patient with May-Hegglin anomaly. Pediatr Blood Cancer. Dec 2006;47(7):968-9. [Medline].

  16. Dong F, Li S, Pujol-Moix N, et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol. Aug 2005;130(4):620-7. [Medline].

  17. 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].

  18. 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].

  19. Bizzaro N. May-Hegglin anomaly and uncomplicated vaginal delivery: a report of 41 cases. Am J Obstet Gynecol. Jul 1999;181(1):226-7. [Medline].

  20. 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].

  21. 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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Further Reading

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Keywords

May-Hegglin anomaly, MHA, thrombocytopenia, MYH9 gene, leukocytic inclusions, leukocyte inclusions, macrothrombocytopenia, Döhle bodies, Sebastian syndrome, Epstein syndrome, Fechtner syndrome, recurrent epistaxis, gingival bleeding, easy bruising, menorrhagia, hearing loss, cataracts, hematuria, proteinuria

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Contributor Information and Disclosures

Author

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

Coauthor(s)

Frank E Shafer, MD, Associate Professor, Department of Pediatrics, Section of Hematology-Oncology, St. Christopher's Hospital for Children, MCP Hahnemann University School
Frank E Shafer, MD is a member of the following medical societies: American Society of Hematology and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Gary D Crouch, MD, Program Director of Pediatric Hematology-Oncology Fellowship, Department of Pediatrics, Associate Professor, 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.

CME Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida, Clinical Professor, Department of Pediatrics, UNC, 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, Department of Oncology, Division of Pediatric Oncology, 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.

 
 
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