Myotonic Dystrophy-1 Complicated by Factor-V (Leiden) Mutation
Joint Authors
Finsterer, Josef
Stöllberger, Claudia
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Objectives.
Presence of a factor-V Leiden mutation in a patient with myotonic dystrophy type 1 (DM1) has been reported only once.
Here we report the second DM1 patient carrying a factor-V mutation who died from long-term complications of this mutation.
Case Report.
A 66-year-old DM1 patient with multi-organ-disorder syndrome developed a first deep venous thrombosis (DVT) and consecutive pulmonary embolism (PE) at age 50 y.
Acetyl-salicylic acid was given.
One year later he experienced a second DVT; that is why phenprocoumon was started.
Despite anticoagulation, he experienced a third DVT bilaterally and a second PE bilaterally at 61 y; that is why a vena cava filter was additionally deployed.
Despite therapeutic anticoagulation, he experienced a vena cava filter thrombosis at age 62 y.
Genetic workup revealed a heterozygous factor-V mutation in addition to a CTG-repeat expansion of 500.
As a consequence of PE he developed chronic obstructive pulmonary disease and experienced recurrent pulmonary infections, which were lastly responsible for decease at age 66 y despite intensive care measures.
Conclusion.
The heterozygous Leiden mutation may severely affect DM1 patients to such a degree that they die from its complications.
If DM1 patients present with unusual manifestations, search for causes other than a CTG-repeat expansion is indicated.
American Psychological Association (APA)
Finsterer, Josef& Stöllberger, Claudia. 2015. Myotonic Dystrophy-1 Complicated by Factor-V (Leiden) Mutation. Case Reports in Medicine،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058803
Modern Language Association (MLA)
Finsterer, Josef& Stöllberger, Claudia. Myotonic Dystrophy-1 Complicated by Factor-V (Leiden) Mutation. Case Reports in Medicine No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058803
American Medical Association (AMA)
Finsterer, Josef& Stöllberger, Claudia. Myotonic Dystrophy-1 Complicated by Factor-V (Leiden) Mutation. Case Reports in Medicine. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058803
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058803