Livedoid vasculopathy associated with combined prothrombin G20210A and factor V (Leiden) heterozygosity and MTHFR C677T homozygosity.
Livedoid vasculopathy (LV) is an occlusive thrombotic disease of lower extremities. A 34-year-old woman presented with 4-year history of recurrent necrotic and painful lesions with violaceous and purpuric border on both legs. Initial treatment with hydroxychloroquine, dapsone and prednisone were unsuccessful. Skin biopsy showed inflammatory infiltrate with epidermal necrosis. Prothrombin G20210A and factor V-Leiden heterozygosity, and MTHFR C677T homozygosity with hyperhomocysteinemia were confirmed. LV diagnosis was made; acetylsalicylic acid, folic acid, vitamin B12, and prednisone treatement resulted in complete healing. This is the first report on coexistence of prothrombin G20210A, factor V-Leiden, and homozygous MTHFR C677T with hyperhomocysteinemia in LV.
Irani-Hakime
Noha A
NA
Department of Laboratory Medicine, St. Georges University Hospital, Beirut, Lebanon.
Stephan
Farid
F
Kreidy
Raghid
R
Jureidini
Isabelle
I
Almawi
Wassim Y
WY
D000328:Adult; D000700:Analgesics / Q000627:therapeutic use; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D000925:Anticoagulants / Q000627:therapeutic use; D001777:Blood Coagulation / Q000235:genetics*; D004359:Drug Therapy, Combination; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000235:genetics; D054068:Livedo Reticularis / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D016896:Treatment Outcome
D000700:Analgesics; D000893:Anti-Inflammatory Agents; D000925:Anticoagulants; C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)