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Published on: July 29, 2016

Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy

E Cobos1, M Phy, Y K Keung

  • 1Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock 79430, USA.

Clinical and Applied Thrombosis/Hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
|March 22, 2000
PubMed

Insights

This case report highlights a rare instance of thrombosis in a patient with myotonic dystrophy, a hereditary muscular disorder. The patient had both protein C deficiency and factor V Leiden, increasing their risk.

Area of Science:

  • Medical Genetics
  • Hematology
  • Neurology

Background:

  • Hereditary muscular disorders, such as myotonic dystrophy, are associated with a sedentary lifestyle, potentially increasing thrombosis risk.
  • Literature on thrombosis in hereditary muscular disorders is limited, necessitating further investigation into associated risk factors.

Observation:

  • A rare case of double heterozygous type I protein C deficiency and factor V Leiden was identified.
  • The patient presented with classic myotonic dystrophy, a progressive neuromuscular disease.

Findings:

  • The co-occurrence of type I protein C deficiency and factor V Leiden mutation in a patient with myotonic dystrophy is exceptionally uncommon.
  • This genetic combination significantly elevates the risk of venous thromboembolism.

Implications:

  • This case underscores the importance of considering thrombotic risk in patients with myotonic dystrophy, especially those with co-existing genetic predispositions.
  • Further research is warranted to elucidate the complex interplay between hereditary muscular disorders and thrombophilia.
  • Early screening and prophylactic measures may be beneficial for at-risk individuals.

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