Coagulation factor V gene mutation associated with activated protein C resistance leading to recurrent thrombosis, leg ulcers, and lymphedema: successful treatment with intermittent compression.
Activated protein C resistance is the most frequent cause of venous thrombosis. We describe a patient with extensive ulcerations and severe lymphedema of the legs after recurrent thrombosis. Laboratory tests revealed a pathologic activated protein C resistance and a reduced functional protein S. The underlying genetic defect was identified as a heterozygous coagulation factor V mutation. A combined therapeutic approach of intermittent compression, repeated debridements and systemic antibiotics resulted in marked improvement of both lymphedema and leg ulcers.
Peus
D
D
Department of Dermatology, Heinrich-Heine-University, Düsseldorf, Germany.
von Schmiedeberg
S
S
Pier
A
A
Scharf
R E
RE
Wehmeier
A
A
Ruzicka
T
T
Krutmann
J
J
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D001458:Bandages; D001778:Blood Coagulation Disorders / Q000235:genetics; D003646:Debridement; D005165:Factor V / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007871:Leg Ulcer / Q000209:etiology* / Q000628:therapy; D008209:Lymphedema / Q000209:etiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011486:Protein C / Q000378:metabolism*; D017293:Protein S / Q000378:metabolism; D012008:Recurrence; D013924:Thrombophlebitis / Q000209:etiology* / Q000235:genetics / Q000628:therapy
D000900:Anti-Bacterial Agents; D011486:Protein C; D017293:Protein S; D005165:Factor V