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Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy
1Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock 79430, USA.
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.
Abstract:
While patients with hereditary muscular disorder are more sedentary and believed to be at risk of thrombosis, there is little literature on thrombosis associated with hereditary muscular disorder. We report a rare case of double heterozygous type I protein C deficiency and factor V Leiden in a patient with classic myotonic dystrophy.