Myotonic dystrophy-1 complicated by factor-v (leiden) mutation

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.