May-Hegglin Anomaly Clinical Presentation

Updated: Feb 28, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Presentation

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. [12]

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 [18] :

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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. [25]

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