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Femoral head avascular necrosis and stroke-like lesions in a gaucher type i patient heterozygous for factor v leyden: just a coincidence?

F Vairo, CBO Netto, A Dornelles, SL Segal, IVD Schwartz, LEONARDO MODESTI VEDOLIN

Em: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 2010, Istambul, Turquia, v. 33, n. 0, p. 149-149.

Motivo: Produção Corpo Clínico

Setor HMV: UDI - Gerência

Área da saúde:

Resumo: Introduction: Gaucher Disease (GD) affects mainly the liver, spleen, bone marrow and skeleton. Clinical and radiological evidence of skeletal involvement occurs in the majority of patients. While enzyme replacement therapy (ERT) is highly effective in reversing visceral and haematological manifestations, its precise impact on the bone disease is unknown. GD splenectomized patients, especially those ones who are carriers of thrombophylic mutations, appear to be at a higher risk to develop avascular necrosis (AVN) but no other types of thromboembolic events. Case Report: We report a 33 year-old male patient with type-I GD (p/ N370S/L444P) who is heterozygous for factor V Leiden (FVL) mutation. His symptoms started when he was 16 years old, with hepatosplenomegaly and bone changes. He underwent splenectomy at age 25. The diagnosis of GD was performed at 27 years-old just after an episode of AVN. ERT with imiglucerase started in 2004 and total hip arthroplasty was performed in 2008. In 2010, he presented blurred vision and weakness of both hands. MRI showed multiple stroke-like lesions. No other risk factor for stroke is present. Discussion/Conclusion: Antithrombotic therapy is usually not recommended for asymptomatic carriers of FVL neither for GD patients presenting AVN. Our case emphasizes that GD patients who are carriers of FVL may be are at higher risk to develop not only AVN, but also other types of thromboembolic events; so, the use of antithrombotic therapy should be considered in these patients.

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