Dunnigan familial partial lipodystrophy explained
Familial Partial Lipodystrophy, Dunnigan Type |
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. 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] The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder. [4]
See also
Notes and References
- Hegele . RA . Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome . . 71 . 4 . 539–44 . December 2000 . 11136544 . 10.1006/mgme.2000.3092 .
- Hegele . RA . Insulin resistance in human partial lipodystrophy . . 2 . 5 . 397–404 . September 2000 . 11122771 . 10.1007/s11883-000-0078-0. 38167209 .
- Ludtke . A . Genschel . J . Brabant . G . Bauditz . J . Taupitz . M . Koch . M . Wermke . W . Worman . HJ . Schmidt . HH-J . 4 . Hepatic steatosis in Dunnigan-type familial partial lipodystrophy . . 100 . 10 . 2218–24 . October 2005 . 10.1111/j.1572-0241.2005.00234.x . 16181372 . 23356132 .
- Köbberling . J . Dunnigan . M . Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state . Journal of Medical Genetics . 1986 . 23 . 2 . 120–127 . 10.1136/jmg.23.2.120. 3712389 . 1049565 .