Lipoprotein and apolipoprotein electrophoresis in X-linked recessive ichthyosis

Background and Objective. The clinical differentiation of the hereditary ic hthyosis forms is difficult and without laboratory markers hardly possible. Serum lipoprotein electrophoresis is one tool for detecting patients with recessive X-linked ichthyosis (XRI). Compared to controls, XRI patients sho w elevated electrophoretic mobilities of low density (LDL) and very low den sity lipoproteins (VLDL). This change in pattern is only partially explaine d by the increased LDL cholesterin sulfate concentration and is the subject of this study. Patients/Methods. Patients suffering from XRI and ichthyosis vulgaris, heal thy controls. SDS-PAGE-electrophoresis and isoelectric focusing for detecti on of XRI-associated variations in apolipoproteins apo B-100, apo C-lll and apo E. Results. XRI-associated apolipoprotein variants were not found. In contrast to the literature,an increased electrophoretic mobility was also observed for HDL (high density lipoproteins) from XRI patients. Conclusions. The underlying cause of the increased electrophoretic mobility of VLDL and HDL in XRI patients remains unclear. Future studies should inv estigate other apolipoproteins and verify the cholesterin sulfate concentra tions reported for VLDL and HDL from XRI patients.