About Familial Partial Lipodystrophy

What is Familial Partial Lipodystrophy?

Familial Partial Lipodystrophy (FPLD) is a rare genetic disorder that affects the body's ability to store fat. It is characterized by a loss of fat in the arms, legs, and face, while fat accumulates in the abdomen, neck, and other areas. People with FPLD may also experience insulin resistance, diabetes, and other metabolic problems.

What are the symptoms of Familial Partial Lipodystrophy?

The symptoms of Familial Partial Lipodystrophy (FPLD) vary depending on the type of FPLD, but generally include:

-Insulin resistance

-High levels of triglycerides and cholesterol in the blood

-Enlarged liver and/or spleen

-Fat accumulation in the neck, face, and upper back

-Loss of fat in the arms, legs, and trunk

-A “buffalo hump” of fat on the back of the neck

-A “double chin”

-A “moon face”

-A “sagging” appearance of the face

-A “hollow” appearance of the cheeks

-A “humped” appearance of the back

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What are the causes of Familial Partial Lipodystrophy?

Familial Partial Lipodystrophy (FPLD) is a rare genetic disorder caused by mutations in the LMNA gene. This gene is responsible for producing a protein called lamin A, which helps to maintain the structure of the cell nucleus. Mutations in this gene can cause the body to produce an abnormal form of lamin A, which can lead to the loss of fat tissue in certain areas of the body. Other causes of FPLD include mutations in the PPARG, AKT2, and CAV1 genes.

What are the treatments for Familial Partial Lipodystrophy?

1. Metformin: Metformin is an oral medication used to treat type 2 diabetes. It has been found to be effective in treating Familial Partial Lipodystrophy (FPLD) by improving insulin sensitivity and reducing fat accumulation in the liver.

2. Lifestyle Changes: Making changes to your diet and exercise routine can help reduce fat accumulation in the body and improve insulin sensitivity.

3. Insulin Sensitizers: Medications such as thiazolidinediones (TZDs) can help improve insulin sensitivity and reduce fat accumulation in the body.

4. Growth Hormone Therapy: Growth hormone therapy has been found to be effective in reducing fat accumulation in the body and improving insulin sensitivity.

5. Bariatric Surgery: Bariatric surgery can help reduce fat accumulation in the body and improve insulin sensitivity.

What are the risk factors for Familial Partial Lipodystrophy?

1. Genetic predisposition: Familial Partial Lipodystrophy is an inherited disorder caused by mutations in the LMNA gene.

2. Age: The disorder is more common in adults, although it can occur in children.

3. Gender: Women are more likely to be affected than men.

4. Ethnicity: Familial Partial Lipodystrophy is more common in people of Middle Eastern, North African, and South Asian descent.

5. Obesity: People who are overweight or obese are more likely to develop Familial Partial Lipodystrophy.

Is there a cure/medications for Familial Partial Lipodystrophy?

Yes, there are medications available to treat Familial Partial Lipodystrophy. These medications include Metformin, Rosiglitazone, and Pioglitazone. Additionally, lifestyle modifications such as diet and exercise can help to manage the symptoms of Familial Partial Lipodystrophy.