familial partial lipodystrophy

fa·mil·i·al partial lip·o·dys·tro·phy

[MIM*151660]
a disorder characterized by symmetric truncal and extremity lipodystrophy. Findings include full and rounded face, xanthomata, acanthosis nigricans, and insulin-resistant hyperglycemia. In affected patients, fat accumulates around neck, shoulders, and genitalia.

fa·mil·i·al par·tial lip·o·dys·tro·phy

(fă-mil'ē-ăl pahr'shăl lip'ō-dis'trŏ-fē)
Characterized by symmetric lipoatrophy of the trunk and limbs but the face is spared; with full rounded face, xanthomata, acanthosis nigricans, and insulin-resistant hyperglycemia; fat accumulates around the neck, shoulders, and genitalia.
Synonym(s): Kobberling-Dunnigan syndrome.
References in periodicals archive ?
We also plan to begin dosing patients in our Phase 3 study of volanesorsen in patients with familial partial lipodystrophy by the end of the year.
Akcea and Isis initiated a Phase 3 study of volanesorsen in patients with familial partial lipodystrophy.
Mutations in LMNA cause familial partial lipodystrophy (FPLD), a genetic disorder that leads to unbalanced body fat distribution (Owen et al.
2001) and can cause an inherited disorder called familial partial lipodystrophy (FPLD), which is characterized by abnormal body fat distribution.
In 1998, researchers localized a human gene that caused familial partial lipodystrophy, called Dunnigan type (FPLD).
In people with Dunnigan-type familial partial lipodystrophy, fat melts from arms, legs, and buttocks while depositing in the head, neck, and abdomen.
Findings from the first poster titled, "Metabolic Effects of Metreleptin Treatment in Familial Partial Lipodystrophy (FPL)," included data from an ongoing expanded access protocol of metreleptin administration in patients with rare forms of inherited or acquired lipodystrophy.
Akcea's most advanced program, volanesorsen, is in Phase 3 development to treat patients with ultra-orphan lipid disorders that are characterized by extremely high triglycerides and ApoC-III, including familial chylomicronemia syndrome (FCS) and familial partial lipodystrophy (FPL).
NASDAQ: ISIS) and its wholly owned subsidiary, Akcea Therapeutics, today announced the start of a Phase 3 study to evaluate the efficacy and safety of volanesorsen in patients with familial partial lipodystrophy (FPL).
We have numerous clinical trial initiations planned, including the Phase 3 study in cardiomyopathy being conducted by GSK and the Phase 3 study evaluating volanesorsen in patients with familial partial lipodystrophy.
A second Phase 3 study of volanesorsen is planned to begin later this year in patients with familial partial lipodystrophy (FPL).

Medical browser ?
Full browser ?