eMedicine Specialties > Pediatrics: General Medicine > Hematology

May-Hegglin Anomaly: Follow-up

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

Follow-up

Complications

  • Most individuals with May-Hegglin anomaly (MHA) do not have bleeding problems; however, severe bleeding can occur.9
  • The bleeding risk is increased by taking drugs that decrease platelet function.

Prognosis

  • Most patients with MHA do not have clinically significant problems with bleeding and, therefore, do not require treatment.

Patient Education

  • Individuals with MHA should understand their personal risk of bleeding. They should understand that their bleeding risks are associated with the degree of thrombocytopenia.
  • Before patients undergo surgical procedures or in patients with trauma, the diagnosis of MHA must be discussed because special precautions and procedures may be required to prevent bleeding complications.
  • Individuals with MHA should be educated to avoid drugs (eg, aspirin) that can adversely affect platelet function.

Miscellaneous

Medicolegal Pitfalls

  • Because of the increased risk of bleeding in individuals with chronic thrombocytopenia (especially intracranial hemorrhage), pay special attention to individuals with May-Hegglin anomaly (MHA) who have an injury. Consider performing imaging studies in these patients. Failure to recognize internal bleeding associated with thrombocytopenia could delay treatment.
  • Failure to appropriately diagnose MHA could result in inappropriate treatment. In clinical states of chronic thrombocytopenia associated with large and giant platelets, including chronic immune thrombocytic purpura, consider MHA in the differential diagnosis. A familial history of thrombocytopenia can be an important feature. Rule out MHA before undertaking procedures (eg, splenectomy) or medical therapy with potentially toxic adverse effects.
  • MHA may be confused with other MYH9 -related disorders in which hearing and renal function are impaired. In a patient with this diagnosis, renal function and hearing should be evaluated.

Special Concerns

  • Because of the increased risks (particularly intracranial hemorrhage) of bleeding in young children who have thrombocytopenia, pay special attention to children with MHA who have severe head trauma. Imaging studies of the head (CT or MRI) should be considered in these patients.
  • Because MHA is an autosomal dominant inherited condition, genetic counseling is important.
 


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

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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].

  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].

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  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].

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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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