Detection of albumin binding abnormalities in sera of patients with familial dysalbuminaemic hyperthyroxinaemia using isoelectric focusing.

Definitive diagnosis of familial dysalbuminaemic hyperthyroxinaemia (FDH) requires finding a high concentration of [125I]T4 bound to albumin. We used isoelectric focusing (IEF) in agarose gels to study the sera of three members of a family with FDH and compared the distribution of [125I]T4 obtained by IEF with that obtained by conventional agarose gel electrophoresis (AGE). Both IEF and AGE confirmed the diagnoses of FDH. In case #1, the % [125I]T4 bound to albumin was 15.2 and 20.0, with IEF and AGE, respectively, in case #2 23.6 and 26.5, and in case #3, 22.1 and 23.0, compared to normal controls of 5.9 and 7.4, respectively. IEF has not previously been used to diagnose FDH, to our knowledge. IEF has the advantage of eliminating TBG interference with albumin migration, which can potentially complicate the diagnosis of FDH when the AGE method is used. To date, reverse flow electrophoresis, a more cumbersome method with poorer resolution than IEF, has been utilized to eliminate TBG interference. IEF, in agarose gels, is a relatively simple and accurate method to diagnose FDH, and avoids artifacts which may be encountered with AGE.