Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare
monogenic form of
insulin resistance
Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin.
Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood gluco ...
characterized by loss of
subcutaneous fat from the
extremities,
trunk
Trunk may refer to:
Biology
* Trunk (anatomy), synonym for torso
* Trunk (botany), a tree's central superstructure
* Trunk of corpus callosum, in neuroanatomy
* Elephant trunk, the proboscis of an elephant
Computing
* Trunk (software), in rev ...
, and
gluteal region. FPLD recapitulates the main
metabolic
Metabolism (, from el, μεταβολή ''metabolē'', "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cell ...
attributes of the
insulin resistance syndrome, including
central obesity,
hyperinsulinemia,
glucose intolerance and
diabetes usually
type 2,
,
hypertension
Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms. Long-term high bl ...
,
and early endpoints of
atherosclerosis.
It can also result in
hepatic steatosis
Fatty liver disease (FLD), also known as hepatic steatosis, is a condition where excess fat builds up in the liver. Often there are no or few symptoms. Occasionally there may be tiredness or pain in the upper right side of the abdomen. Complicat ...
.
FPLD results from
mutations
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...
in
LMNA gene, which is the gene that encodes
nuclear lamins
Lamins, also known as nuclear lamins are fibrous proteins in type V intermediate filaments, providing structural function and transcriptional regulation in the cell nucleus. Nuclear lamins interact with inner nuclear membrane proteins to form th ...
A and C.
The condition is named after Scottish doctor Matthew Dunnigan, who pioneered early study into the disorder.
See also
*
Familial partial lipodystrophy
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.
FPL also refers to a rare metabolic condition in which there is a loss of subcutane ...
*
Priscilla Lopes-Schliep
References
External links
Genetic diseases and disorders
Conditions of the subcutaneous fat
{{endocrine-disease-stub