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[Man diagnosed with Klinefelter syndrome after having a pulmonary embolism]

Jenny Körlin1, Mårten Söderberg2

  • 1ST-läkare, lungmedicin, specialist, internmedicin, VO internmedicin, Södersjukhuset, Stockholm.

Lakartidningen
|January 5, 2022
PubMed

Insights

Klinefelter syndrome, a common yet undiagnosed condition in males, significantly increases the risk of venous thromboembolism. Early consideration of this genetic disorder is crucial for affected individuals, especially those with unexplained blood clots.

Area of Science:

  • Endocrinology
  • Genetics
  • Hematology

Background:

  • Klinefelter syndrome (47,XXY) affects approximately 1 in 700 males and is frequently undiagnosed.
  • Venous thromboembolism (VTE) is a known complication associated with Klinefelter syndrome.

Observation:

  • This case report details a male diagnosed with Klinefelter syndrome following a pulmonary embolism.
  • The patient had no other identifiable risk factors for VTE, prompting investigation into underlying causes.

Findings:

  • The pulmonary embolism in this patient was attributed to undiagnosed Klinefelter syndrome.
  • Klinefelter syndrome should be considered in the differential diagnosis for young males presenting with unprovoked VTE.

Implications:

  • Increased awareness and diagnostic consideration of Klinefelter syndrome in males with VTE can lead to earlier diagnosis and management.
  • Somatic examination, including testicular assessment, is vital for raising clinical suspicion of Klinefelter syndrome.
  • Recognizing the link between Klinefelter syndrome and VTE can improve patient outcomes and potentially prevent future thrombotic events.

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