BACKGROUND: The objective of this study was to evaluate the performance of the heavy/light chain and free light chain immunoassays in patients with heavy chain disease, and to assess the ability of the heavy/light chain assay to measure and confirm the abnormal, truncated heavy chain. METHODS: Frozen serum samples from 15 γ-heavy chain disease patients were tested for IgGκ, IgGλ, total IgG, free light chains, and M-spike concentrations. RESULTS: The (Gκ+Gλ)/IgGtotal ratio for these 15 patients ranged from 0.02 to 0.80. The 10 patients with IgG concentrations above 1 g/dL all had ratios below 0.3 indicating that a substantial portion of IgG was not quantitated by the Gκ and Gλ reagents. The average M-spike was 1.61 g/dL and the average calculated abnormal γ-chain concentration was 2.94 g/dL. Additionally, free light chain analysis revealed the presence of monoclonal free κ light chain in three of the 15 patients. CONCLUSIONS: This study demonstrates utility of a nephelometric assay to identify truncated immunoglobulin heavy chains in γ-HCD and that 20% of these patients also have monoclonal free light chain.
BACKGROUND: The objective of this study was to evaluate the performance of the heavy/light chain and free light chain immunoassays in patients with heavy chain disease, and to assess the ability of the heavy/light chain assay to measure and confirm the abnormal, truncated heavy chain. METHODS: Frozen serum samples from 15 γ-heavy chain disease patients were tested for IgGκ, IgGλ, total IgG, free light chains, and M-spike concentrations. RESULTS: The (Gκ+Gλ)/IgGtotal ratio for these 15 patients ranged from 0.02 to 0.80. The 10 patients with IgG concentrations above 1 g/dL all had ratios below 0.3 indicating that a substantial portion of IgG was not quantitated by the Gκ and Gλ reagents. The average M-spike was 1.61 g/dL and the average calculated abnormal γ-chain concentration was 2.94 g/dL. Additionally, free light chain analysis revealed the presence of monoclonal free κ light chain in three of the 15 patients. CONCLUSIONS: This study demonstrates utility of a nephelometric assay to identify truncated immunoglobulin heavy chains in γ-HCD and that 20% of these patients also have monoclonal free light chain.