Reddy Priyanka, Kollipara Revathi, Shammo Jamile M, Loew Jerome
Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, USA.
Department of Internal Medicine, Rush University Medical Center, Chicago, Illinois, USA
BMJ Case Rep. 2021 Mar 1;14(3):e235432. doi: 10.1136/bcr-2020-235432.
May-Hegglin anomaly is the presentation of a qualitative platelet disorder characterised by large platelets, thrombocytopenia and granulocyte inclusions as a result of mutations in the gene. Though often overlooked given its rarity, it should be considered in patients who present with epistaxis, bruising, menorrhagia and easy bleeding as it can be mistaken for other diagnoses resulting in unnecessary treatments and tests. Our case study reports one presentation of this anomaly and can help broaden awareness of the presentation of this type of patient.
May-Hegglin异常是一种定性血小板疾病的表现,其特征为存在大血小板、血小板减少以及粒细胞包涵体,这是由该基因的突变所致。尽管因其罕见性常被忽视,但对于出现鼻出血、瘀斑、月经过多和容易出血的患者应予以考虑,因为它可能被误诊为其他疾病,从而导致不必要的治疗和检查。我们的病例研究报告了这种异常的一种表现形式,有助于提高对这类患者表现的认识。