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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Myotonic dystrophy-1 complicated by factor-v (leiden) mutation

Josef Finsterer1, Claudia Stöllberger2

  • 1Krankenanstalt Rudolfstiftung, 1030 Vienna, Austria.

Case Reports in Medicine
|April 29, 2015
PubMed

Insights

Myotonic dystrophy type 1 patients with factor V Leiden mutation face severe complications. This second reported case highlights the fatal risks of combined genetic mutations, emphasizing the need for broader genetic screening in DM1 patients with unusual symptoms.

Area of Science:

  • Genetics
  • Internal Medicine
  • Pulmonology

Background:

  • Myotonic dystrophy type 1 (DM1) is a multisystemic disorder.
  • Factor V Leiden mutation is a common genetic risk factor for venous thromboembolism.
  • The co-occurrence of DM1 and factor V Leiden mutation is exceedingly rare.

Purpose of the Study:

  • To report the second case of a DM1 patient with a factor V Leiden mutation.
  • To describe the long-term complications and fatal outcome in this patient.
  • To highlight the potential severe impact of combined genetic mutations.

Main Methods:

  • Case report of a 66-year-old male DM1 patient.
  • Detailed clinical history including recurrent deep venous thrombosis (DVT) and pulmonary embolism (PE).
  • Genetic analysis revealing heterozygous factor V mutation and CTG-repeat expansion (500).

Main Results:

  • The patient experienced multiple DVTs, PEs, and vena cava filter thrombosis despite anticoagulation.
  • Complications included chronic obstructive pulmonary disease and recurrent pulmonary infections.
  • The patient died at age 66 due to complications secondary to PE.

Conclusions:

  • The heterozygous factor V Leiden mutation can severely impact DM1 patients, potentially leading to fatal complications.
  • Unusual manifestations in DM1 patients warrant investigation for co-existing genetic factors beyond the CTG-repeat expansion.

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