Systemic lupus erythematosus with C1q deficiency: treatment with fresh frozen plasma:

Treatment and outcome of systemic lupus erythematosus (SLE) in C1q deficient patients are rarely reported. The aim of this report is to share our experience about the course of management of three cases diagnosed as SLE with C1q deficiency, in light of present literature. Initial and dominant complaints of three cases from two different families were cutaneous manifestations. One patient was also diagnosed with arthritis and thrombocytopenia. Antinuclear antibody was positive in all cases, whereas anti-dsDNA was negative with normal levels of complement C3, C4 and decreased CH50 activity. C1QA gene of two patients had homozygous nonsense mutation (c.622 > T/p.Gln208Ter). Previously, all of them had been treated with steroids, hydroxychloroquine and methotrexate or azathioprine. It was learned that they had responded only to high dosage prednisolone and their symptoms flared up during dosage reduction even under methotrexate or azathioprine. All symptoms of all three cases improved by daily fresh frozen pl...