A rare association between factor H deficiency and lupus: Case report and experimental treatment with curcumin

Abstract

Factor H (FH) is one of the most important regulatory proteins of the alternative pathway of the complement system. FH deficiency is a rare condition that causes unregulated C3 consumption, leading to an increased susceptibility to infections and glomerulopathies. Our previous studies have demonstrated a FH deficient patient carrying a c.452G > A, p.R127H FH mutation which leads to a misfolded protein and its retention in the endoplasmic reticulum. In his cultured fibroblasts, FH-delayed secretion was partially rescued when treated with curcumin, and once secreted, exhibited normal regulatory function. Here, we report a childhood-onset systemic lupus erythematosus (cSLE) in this FH deficient patient and the results of experimental treatment with curcumin aiming to rescue FH secretion and regulatory activity.

Keywords: FH deficiency; case report; curcumin; experimental treatment; lupus; translational medicine.

Figure 1

Protocol design, evaluation time, therapeutic intervention, events and report of treatment adherence.

Figure 2

Curcumin and metabolites levels in patients's plasma. (A) 2-g Theracurmin®; (B) 4-g Theracurmin®; (C) Sum comparison of all curcumin fractions and metabolites with 2-g and 4-g Theracurmin®. Cur Gluc: Curcumin Glucuronidase; THC Gluc: Tetrahydrocurcumin Glucorunidase.