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Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [ 3 ] : 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.
Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region.
Lipodystrophy can be divided into the following types: [5]: 495–7 Congenital lipodystrophy syndromes Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) Familial partial lipodystrophy; Marfanoid–progeroid–lipodystrophy syndrome; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [6]
Antinuclear antibodies (ANA) and antidouble-stranded deoxyribonucleic acid (DNA) antibodies have reportedly been observed in some patients with acquired partial lipodystrophy. A genetic workup should be performed if the familial form of lipodystrophy is suggested. Laboratory work for associated diseases includes: [citation needed]
Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [2] It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. [3]
Familial partial lipodystrophy of the Dunnigan type (FPLD) 151660: Lipoatrophic diabetes: Lamin A/C: 2002 [32] Greenberg dysplasia: 215140: Skeletal dysplasia: Lamin B receptor: 2003 [33] Hutchinson–Gilford progeria syndrome (HGPS) 176670: Progeria: Lamin A/C: 2003 [17] Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD) 169500
[2]: 496 There are four types of lipodystrophy based on its onset and areas affected: acquired or inherited (congenital or familial), and generalized or partial. Both acquired or inherited lipodystrophy present as loss of adipose tissues, in the absence of nutritional deprivation.
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.