A number of inborn errors have recently been associated with a diathesis for collagen vascular disorders. For example, hereditary deficiencies of Clr or C2 components of complement have been associated with certain features of SLE. We wish to record the syndrome of JRA with evolution to SLE associated with a familial deficiency of Factor XI (DTA). The propositus, a 26 year old Sephardic female, presented at age 4 with symmetrical destructive polyarthritis, fever and rash. Progressive renal disease began in her early teens, and she developed multiple diagnostic criteria for SLE beginning at age 25. Three maternal relatives manifest arthritis and two showed mild bleeding after surgery. Physical findings included a deforming arthritis and rash. Low levels of C3 and C4, high titers of antibody to native DNA, positive LE cell preparations and Clq precipitins were present. Skin biopsy showed deposits of IgG, IgM, Clq, C3 and C4 at the dermal-epidermal junction.Factor XI levels were 5 per cent in the propositus and mother, with normal levels in a sister. There was no evidence for a circulating anticoagulant and other clotting factors were normal.We believe the present case represents the first association of an inborn error in the clotting system (Factor XI deficiency) and collagen vascular disease with immune complex deposition.
Factor XI Deficiency: First Case Described in Algeria