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Thrombotic complications in patients with PMM2-CDG
M Linssen1, M Mohamed, R A Wevers
1Department of Pediatrics, Radboud University Nijmegen Medical Centre, the Netherlands.
Molecular Genetics and Metabolism
|March 19, 2013
Summary
Congenital disorders of glycosylation (CDG) can cause coagulation imbalances, increasing thrombosis risk. Monitoring anticoagulation factors and avoiding elective surgery in PMM2-CDG patients can prevent serious vascular events.
Area of Science:
- Biochemistry
- Hematology
- Genetics
Background:
- Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases affecting protein glycosylation.
- Deficiencies in coagulation and anticoagulation factors are common in CDG, leading to an increased risk of thrombotic events.
- PMM2-CDG is the most common form of CDG, characterized by a wide range of clinical manifestations.
Purpose of the Study:
- To systematically review thrombotic events in patients with PMM2-CDG.
- To identify risk factors associated with thrombosis in PMM2-CDG patients.
- To provide recommendations for preventing thrombotic complications in CDG.
Main Methods:
- Systematic literature review of PMM2-CDG patients (1990-2012) and analysis of a 15-patient cohort.
- Comparison of patients with and without thrombotic events based on coagulation factor levels (Antithrombin-III, Protein C, Protein S, factors IX and XI).
- Assessment of global hemostasis, family history, and provoking events.
Main Results:
- 14 out of 100 PMM2-CDG patients experienced thrombotic events.
- Low activity of anticoagulation factors correlated with thrombosis.
- Surgical procedures were frequently associated with thrombotic events, while prolonged PT and aPTT did not offer protection.
Conclusions:
- Thrombosis is a significant complication in PMM2-CDG, linked to anticoagulation factor deficiencies.
- Elective surgery should be avoided in PMM2-CDG patients due to increased thrombotic risk.
- Regular monitoring of Antithrombin-III and Protein C, physiotherapy, and patient education are recommended.
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