[A further case of analbuminemia].
At routine follow-up a 23-year-old female presented a high erythrocyte sedimentation rate and handicapping lipodystrophy of the lower limbs. Protein electrophoresis showed absence of an albumin peak and the diagnosis of analbuminaemia 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 review of the literature revealed only 28 other observed cases, although today 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 with other proteins. The absence of abumin is typically associated with hyperlipidaemia and lipodystrophy in the female sex.
Gössi
B
B
Medizinische Abteilung, Spital Schwyz.
Kleinert
D
D
Gössi
U
U
D000328:Adult; D001799:Blood Sedimentation; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008060:Lipodystrophy / Q000097:blood* / Q000235:genetics; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics
D012709:Serum Albumin