Lipodystrophy, Congenital Generalized

What is Lipodystrophy, Congenital Generalized?

Also known as Berardinelli-Seip syndrome this rare genetic condition leads to the loss of almost all of the body fat of an affected individual. Coupled with this is an increased muscularity.

Metabolic issues, and issues breaking down glucose can lead to complications with the syndrome.

There are four different types of the condition, each with their own specific gene mutation. Around 500 cases of the syndrome have been identified worldwide.

What gene changes cause Lipodystrophy, Congenital Generalized?

Type 1: caused by mutations in the AGPAT2 gene.
Type 2: caused by mutations in the BSCL2 gene.
Type 3: caused by mutations in the CAV1 gene
Type 4: caused by mutations in the CAVIN1 gene

It is also possible that there are other gene mutations responsible for the syndrome that have yet to identified

It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Lipodystrophy, Congenital Generalized?

The first symptoms of the syndrome are an absence of body fat at birth or early infancy. Prominent veins, and enlarged muscles are also identified at this age. Growth can be accelerated and affected individuals will have enlarged hands, feet and jaw. Another common syndrome is an increased appetite.

Other symptoms include enlarged muscles, an enlarged liver and an enlarged spleen. A buildup of fatty deposits in the liver, causing it to become enlarged, may lead to more serious liver conditions in time-including cirrhosis.

Symptoms may also vary between affected males and females. All females with the syndrome are infertile, whereas males experience no reproductive issues. For females the development of polycystic ovary syndrome is the cause of this infertility.

How does someone get tested for Lipodystrophy, Congenital Generalized?

The initial testing for Lipodystrophy, Congenital Generalized syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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