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
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macro ...
from the
extremities,
trunk, and
gluteal region
The gluteal muscles, often called glutes are a group of three muscles which make up the gluteal region commonly known as the buttocks: the gluteus maximus, gluteus medius and gluteus minimus. The three muscles originate from the ilium and sa ...
. FPLD recapitulates the main
metabolic attributes of the
insulin resistance syndrome, including
central obesity
Abdominal obesity, also known as central obesity and truncal obesity, is a condition when excessive visceral fat around the stomach and abdomen has built up to the extent that it is likely to have a negative impact on health. Abdominal obesity has ...
,
hyperinsulinemia
Hyperinsulinemia is a condition in which there are excess levels of insulin circulating in the blood relative to the level of glucose. While it is often mistaken for diabetes or hyperglycaemia, hyperinsulinemia can result from a variety of metabo ...
,
glucose intolerance and
diabetes
Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ...
usually
type 2,
dyslipidemia
Dyslipidemia is an abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids) in the blood. Dyslipidemia is a risk factor for the development of atherosclerotic cardiovascular disease ( ASCVD). ASCVD includes coronary ar ...
,
hypertension,
and early endpoints of
atherosclerosis
Atherosclerosis is a pattern of the disease arteriosclerosis in which the wall of the artery develops abnormalities, called lesions. These lesions may lead to narrowing due to the buildup of atheromatous plaque. At onset there are usually no s ...
.
It can also result in
hepatic steatosis.
FPLD results from
mutations in
LMNA
Pre-lamin A/C or lamin A/C is a protein that in humans is encoded by the ''LMNA'' gene. Lamin A/C belongs to the lamin family of proteins.
Function
In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, re ...
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
, which is the gene that encodes
nuclear lamins 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
Priscilla Lopes-Schliep (born 26 August 1982) is a Canadian retired hurdler in track and field athletic competition. She was born in Scarborough, Ontario, and currently lives in Whitby.
Personal
Born in Scarborough, Ontario, Lopes-Schliep's h ...
References
External links
Genetic diseases and disorders
Conditions of the subcutaneous fat
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