Hemarthrosis revealing congenital factor XI deficiency.
Congenital factor XI deficiency (also known as the Rosenthal syndrome or hemophilia C) manifests as minor bleeding, usually after trauma or surgery. We report a case in which bilateral knee hemarthrosis was the first manifestation. The patient presented at 32 years of age with a 2-year history of mechanical pain and intermittent swelling in both knees. Knee aspiration recovered blood-tinged fluid. The laboratory workup showed severe factor XI deficiency. Replacement therapy with fresh frozen plasma was effective. Tests in the family showed factor XI deficiency in the patient's sister.
Souabni
Leila
L
Rheumatology Department, La Rabta Hospital, Jabbari Street, 1006 Tunis, Tunisia.
Meddeb
Nihel
N
Ajlani
Houda
H
Ben Romdhane
Neila
N
Sellami
Sleheddine
S
D000328:Adult; D005173:Factor XI Deficiency / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D006395:Hemarthrosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D008297:Male