Dunnigan familial partial lipodystrophy

Dunnigan familial partial lipodystrophy
Classification and external resources
OMIM 151660

Dunnigan-type familial partial lipodystrophy, abbreviated as (FPLD), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes[1] usually type 2,[2] dyslipidemia, hypertension,[1] and early endpoints of atherosclerosis.[2] It can also result in hepatic steatosis.[3] FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C.[1]

See also

References

  1. ↑ 1.0 1.1 1.2 Hegele, RA (December 2000). "Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome". Molecular Genetics and Metabolism 71 (4): 539–44. doi:10.1006/mgme.2000.3092. PMID 11136544.
  2. ↑ 2.0 2.1 Hegele, RA (September 2000). "Insulin resistance in human partial lipodystrophy". Current Atherosclerosis Reports 2 (5): 397–404. doi:10.1007/s11883-000-0078-0. PMID 11122771.
  3. ↑ Ludtke, A; Genschel, J; Brabant, G; Bauditz, J et al. (October 2005). "Hepatic steatosis in Dunnigan-type familial partial lipodystrophy". The American Journal of Gastroenterology 100 (10): 2218–24. doi:10.1111/j.1572-0241.2005.00234.x. PMID 16181372.