Familial partial lipodystrophy is a rare genetic disorder in which progressive loss of subcutaneous fat starts around puberty. Depending on the subtype, loss of fat in the extremities and trunk, with the accumulation of adipose tissue in the head and neck region may be seen. Laboratory tests and imaging studies are used for the diagnosis. Symptomatic treatment is the mainstay of care.
There are two main types of FPLD :
The diagnostic workup must comprise a thorough patient history that might reveal a familial presence of symptoms and a thorough physical examination that will identify the distribution of adipose tissue. Laboratory workup reveals hypertriglyceridemia and insulin resistance , but because clinical features of this rare genetic syndrome strongly point to an endocrine disease, the diagnosis can be easily missed . For this reason, the role of history taking in these patients is of vital importance.
Mutations in genes that code for intermediate filaments proteins that serve as constituents of nuclear membranes, known as lamins, are the underlying cause of FPLD . Lamin A and C mutations are transferred by an autosomal dominant pattern of inheritance and the condition is exclusively found in more than one family member . Most recent studies have discovered that mutations in one of the nuclear receptors, the peroxisome proliferator-activated receptor gamma (PPARG), are also associated with the onset of FPLD .
FPLD is a very rare condition and only isolated case reports or case series are the sources of data regarding this condition     . Neither gender nor ethnic predilection has been established, whereas risk factors are yet to be determined.
Lamins are recognized as essential nuclear membrane proteins and they are coded by Lamin A and C genes . In the setting of mutations, their structure is disrupted and through still unknown mechanisms, individuals suffer from adipose tissue loss and develop a clinical presentation of metabolic syndrome  .
At this point, prevention strategies against FPLD do not exist.
Familial partial lipodystrophy (FPLD, also known as Köbberling–Dunnigan syndrome), is a rare autosomal dominant genetic disorder that belongs to the group of laminopathies, disorders that are associated with mutations in the lamin A/C gene (LMNA and LMNC, respectively) . The pathogenesis model remains unclear but is thought that mutations in these intermediate filament proteins lead to fat loss and development of insulin resistance . There are two main clinical types: type I, in which fat loss predominantly occurs on the extremities, with normal or slightly increased distribution of adipose tissue in the thorax and the head and neck area; and type II, characterized by loss of fat from both the limbs and the trunk and its accumulation in the neck region . To make the diagnosis, it is necessary to obtain a thorough patient history, perform a detailed physical examination and evaluate serum lipid and glucose levels, as diabetes mellitus and dyslipidemia are frequent findings in these patients . Treatment focuses on managing symptoms, mainly through lipid-lowering drugs and insulin .
Familial partial lipodystrophy (FPLD) is a rare genetic disease characterized by loss of fat tissue due to mutations of proteins that serve as building blocks of cell membranes. FPL is transferred by an autosomal dominant pattern of inheritance, meaning that parents will almost certainly transfer the mutated gene to their children and the majority of reported cases involve more than one family member. The disease most frequently presents with loss of fat in the extremities and a normal or somewhat increased amount of fat in the chest and the head and neck area and metabolic diseases such as diabetes mellitus are commonly encountered. Symptoms start in early childhood and the diagnosis can be made by obtaining a detailed patient history that reveals the presence of symptoms in other family members, while blood tests show elevations of triglycerides and glucose. Treatment is currently aimed at controlling diabetes and high lipid levels.