A further case of analbuminaemia

At routine follow-up a 23-year-old female presented a high erythrocyte sedi mentation rate and handicapping lipodystrophy of the lower limbs. Protein e lectrophoresis showed absence of an albumin peak and the diagnosis of analb uminaemia was therefore proposed. Investigation of family members disclosed that one brother out of a total of four siblings also had analbuminaemia. The hereditary pathway often appears to be autosomalrecessive. Subsequent r eview of the literature revealed only 28 other observed cases, although tod ay electrophoresis has become a worldwide routine examination. Surprisingly , the almost complete absence of so important a protein as albumin does not trigger disease. The body is able to compensate for the lack of albumins w ith other proteins. The absence of abumin is typically associated with hype rlipidaemia and lipodystrophy in the female sex.