This report describes a 46-year-old Japanese diabetic woman with an unusual type of
familial partial lipodystrophy. She has marked loss of subcutaneous fat in her lower limbs and buttocks, with sparing of the face, neck, upper limbs, and trunk. This distribution of fat
atrophy appears to be rare in comparison with previous reports. Sequencing of candidate genes LMNA, PPARG, AKT2,
caveolin-1, as well as the PPARG4 promoter gene, which are known to be associated with
familial partial lipodystrophy, revealed no genetic abnormalities, suggesting that this case may involve a novel gene.
Pioglitazone was markedly effective in
glycemic control in this case. Her diabetes remained uncontrolled despite a total daily dose of
insulin of 30 U and combined treatment with 10 mg of
glibenclamide and 0.6 mg of
voglibose. We therefore attempted combined treatment with 30 mg of
pioglitazone and 30 U/d
insulin injection. The
hemoglobin A(1c) level was reduced from 11.2% to 6.1% after 6 months of treatment and has since remained stable. Her
body weight increased from 62.0 to 71.0 kg after 12 months of treatment, suggesting that
weight gain may result from synergism between
thiazolidinediones and
insulin-promoting adipogenesis.
Pioglitazone increased the fat mass in the upper limbs and trunk, while inducing less increase in the lower limbs, where fat
atrophy exists in this patient.
Pioglitazone may thus have improved the
glycemic control in this case through adipocyte differentiation from progenitor cells mainly in the upper limbs and trunk.