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Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy
Josef Finsterer1, Ernst Sehnal2
1Department of Neurological, General Hospital Rudolfstiftung, Vienna, Austria, Europe.
Journal of Neurosciences in Rural Practice
|July 14, 2015
Summary
Hereditary hemorrhagic telangiectasia (HHT) patients with low iron levels may experience elevated Factor VIII, increasing venous thromboembolism risk. Iron supplementation could potentially mitigate this hypercoagulability in HHT patients.
Area of Science:
- Hematology
- Genetics
- Vascular Medicine
Background:
- Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by abnormal blood vessel formation.
- Iron deficiency is common in HHT due to recurrent bleeding, potentially impacting coagulation.
- Elevated Factor VIII levels have been linked to an increased risk of venous thromboembolism (VTE).
Observation:
- A 64-year-old male with HHT presented with recurrent VTE, including mesenteric, portal, and deep vein thrombosis.
- The patient exhibited iron deficiency (sideropenia) and elevated plasma levels of coagulation Factor VIII.
- His medical history included multiple comorbidities and gastrointestinal bleeding, complicating anticoagulation management.
Findings:
- The patient's hypercoagulable state, characterized by elevated Factor VIII, was attributed to iron deficiency secondary to recurrent bleeding.
- This case supports recent data linking low iron levels in HHT patients to increased Factor VIII and VTE risk.
Implications:
- Hereditary hemorrhagic telangiectasia may be associated with a hypercoagulable state due to Factor VIII elevation linked to iron deficiency.
- Iron substitution therapy may be a potential strategy to prevent hypercoagulability and reduce VTE risk in HHT patients.
- Further research is warranted to explore the efficacy and safety of iron supplementation in managing VTE risk in HHT.
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