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[Recurrent bleeding tendency in a school-aged boy].

Xiao-Yan Tang1, Juan Xiao, Wei Wang

  • 1Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Beijing 100730, China. xiaojuan@pumch.cn.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|March 16, 2016
PubMed
Summary
This summary is machine-generated.

A boy with alpha1-antitrypsin Pittsburgh mutation experienced joint bleeding due to an acquired thrombin inhibitor. Genomic sequencing confirmed the rare mutation, highlighting a unique bleeding disorder.

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Area of Science:

  • Hematology
  • Genetics
  • Biochemistry

Background:

  • Alpha1-antitrypsin (AAT) deficiency is a genetic disorder that can lead to lung and liver disease.
  • The AAT Pittsburgh mutation is a rare variant associated with an acquired coagulopathy.
  • Recurrent joint hematoma suggests a potential bleeding disorder.

Observation:

  • A pediatric patient presented with recurrent joint hematoma.
  • Laboratory tests showed prolonged prothrombin time and activated partial thromboplastin time, uncorrected by fresh plasma.
  • Tests for factor VIII inhibitor, anticardiolipin antibody, and lupus anticoagulant were negative.
  • Platelet aggregation studies revealed an inhibitor of thrombin.

Findings:

  • Genomic sequencing confirmed the presence of the alpha1-antitrypsin Pittsburgh mutation.
  • The patient's bleeding symptoms were attributed to an acquired inhibitor of thrombin, linked to the AAT Pittsburgh mutation.

Implications:

  • This case highlights the importance of considering rare genetic mutations in unexplained bleeding disorders.
  • Early diagnosis and management of AAT Pittsburgh mutation are crucial for preventing complications like joint damage.
  • Further research into the mechanism of acquired thrombin inhibition by AAT variants is warranted.