AKT2-related familial partial lipodystrophy is a rare genetic disorder that affects the body's ability to store fat. It is caused by mutations in the AKT2 gene, which is responsible for producing an enzyme that helps regulate the metabolism of fat. People with this disorder typically have a loss of fat in the arms, legs, and face, as well as an accumulation of fat in the abdomen, neck, and upper back. Other symptoms may include diabetes, high cholesterol, and fatty liver disease.

The symptoms of AKT2-related familial partial lipodystrophy include:

-Insulin resistance
-Hypertriglyceridemia
-Hyperinsulinemia
-Hyperglycemia
-Hypertension
-Abdominal obesity
-Loss of subcutaneous fat in the arms, legs, and face
-Enlarged liver and/or spleen
-Elevated liver enzymes
-Acanthosis nigricans
-Polycystic ovary syndrome
-Gynecomastia
-Accelerated atherosclerosis

AKT2-related familial partial lipodystrophy is caused by mutations in the AKT2 gene. This gene provides instructions for making a protein called AKT2, which is involved in the regulation of several processes in the body, including the metabolism of glucose and the growth and division of cells. Mutations in the AKT2 gene can lead to an abnormal form of the AKT2 protein, which can disrupt the regulation of these processes and cause the signs and symptoms of AKT2-related familial partial lipodystrophy.

The primary treatment for AKT2-related familial partial lipodystrophy is lifestyle modification, including diet and exercise. Additionally, medications such as metformin, thiazolidinediones, and insulin sensitizers may be prescribed to help manage blood sugar levels. In some cases, bariatric surgery may be recommended to help reduce body fat. Finally, cosmetic treatments such as dermal fillers and fat grafting may be used to improve the appearance of affected areas.

1. Family history of AKT2-related familial partial lipodystrophy
2. Being of Ashkenazi Jewish descent
3. Having a mutation in the AKT2 gene
4. Being female
5. Being overweight or obese
6. Having high levels of triglycerides in the blood
7. Having high levels of insulin in the blood
8. Having high levels of low-density lipoprotein (LDL) cholesterol in the blood
9. Having high levels of free fatty acids in the blood
10. Having low levels of high-density lipoprotein (HDL) cholesterol in the blood

At this time, there is no cure for AKT2-related familial partial lipodystrophy. However, there are medications that can help manage the symptoms. These include insulin sensitizers such as metformin, thiazolidinediones, and pioglitazone, as well as medications to control blood sugar, cholesterol, and triglycerides. Additionally, lifestyle modifications such as diet and exercise can help manage the symptoms.