Familial Partial Lipodystrophy

Familial Partial Lipodystrophy

Familial partial lipodystrophy – Dunnigan Variety is a rare genetic disease. It is transmitted as an autosomal dominant trait. Both males and females of several generations may be affected. The possibility of transmission from an affected person to the offspring is 50 %.

There is another variety of FPLD called Kobberling variety. In this Loss of fat is limited to the extremities with normal amounts of fat in the face and normal or even excess fat in the truncal area.

Clinical features

  • Normal appearance at birth.
  • Absence of subcutaneous fat from the upper and lower extremities during childhood or puberty. The trunk, arms and legs are affected by fat loss while the neck and face have more than normal fat deposits. A “buffalo hump” can be observed between the shoulder blades.
  • The arms and legs appear very muscular.
  • In women, lack of fat in the buttocks is striking — flat hips.
  • In some patients, excess fat may accumulate in the face and neck, causing them to have a double chin.
  • They usually have high levels of serum triglycerides and low HDL cholesterol levels.
  • Approximately one-third of these patients may have acanthosis nigricans.
  • The onset of glucose intolerance or diabetes mellitus usually occurs after age 20.
  • Some women may have irregular menstrual cycles and polycystic ovaries.