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May-Hegglin Anomaly Clinical Presentation

  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Hassan M Yaish, MD  more...
 
Updated: May 03, 2016
 

History

Individuals with May-Hegglin anomaly (MHA) are often asymptomatic. The bleeding tendency associated with MHA is generally mild and is thought to mainly depend on the degree of thrombocytopenia.[9]

Symptoms of bleeding can include the following:

  • Recurrent epistaxis
  • Gingival bleeding
  • Easy bruising
  • Menorrhagia
  • Excessive bleeding associated with surgical procedures
  • Postpartum hemorrhage 
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Physical Examination

Physical findings are often normal. Findings of abnormal bleeding may be subtle. Bruising, which may or may not be associated with a history of clinically significant trauma, may be noted.

Petechiae may be present on the skin and are most common in pressure-point areas (eg, on the neck, overlying the clavicles, on the waist, or in areas where clothes are tight). Petechiae are associated with restricting conditions, such as the application of a tourniquet for venipuncture. Petechiae may also be observed on the oral and nasal mucosal surfaces.

Active bleeding from the mucosal surfaces may be observed. The most common sites of bleeding include the mouth and nose. Prolonged and excessive bleeding and oozing associated with lacerations and sutures may also be observed.

Looking for the associated clinical features of MYH9 -related disorders is important in enabling an accurate diagnosis. In patients initially thought to have MHA or Sebastian syndrome, the following findings were noted[15] :

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Complications

Despite mild bleeding symptoms, pregnancy in women with MHA can pose risk. A literature review by Hussein et al revealed that in 40 patients with MHA with 75 pregnancies, postpartum hemorrhage (PPH) occurred in four pregnancies, with three cases of primary and one of secondary PPH. There were two intrauterine fetal deaths, but no documented morbidity in the 34 newborns who were found to have thrombocytopenia after delivery.[21]

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Contributor Information and Disclosures
Author

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP Professor of Pediatrics, Albany Medical College; Chief, Division of Pediatric Hematology-Oncology, John and Anna Landis Endowed Chair for Pediatric Hematology-Oncology, Medical Director, Melodies Center for Childhood Cancer and Blood Disorders, Albany Medical Center

Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, International Society of Pediatric Oncology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Acknowledgements

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.

Frank E Shafer, MD Associate Professor, Department of Pediatrics, Section of Hematology-Oncology, St Christopher's Hospital for Children, MCP Hahnemann University School of Medicine

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.

References
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Blood smear (original magnification ×2000) in patient with May-Hegglin anomaly (MHA) demonstrates characteristic giant platelet with poorly defined granulation. Normal-sized platelet is also present. Trilobed neutrophil contains large, well-defined, basophilic, peripherally placed cytoplasmic inclusion body (resembling Döhle body). Image used with permission from Little, Brown.
Table. Clinical Features of MYH9 -Related Thrombocytopenias
Condition Macrothrombocytopenia Granulocyte inclusions Nephritis and Deafness Cataracts
MHA Yes Linear Döhlelike No No
Epstein syndrome Yes Absent or faint Yes No
Fechtner syndrome Yes Spherical granules Yes Yes
Sebastian syndrome Yes Spherical granules No No
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