Familial multiple lipomatosis

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Familial multiple lipomatosis is a rare genetic disorder characterized by multiple lipomas on the body. Lipomas are benign tumors composed of adipose tissue. In this condition, these lipomas are usually symmetrical and are most commonly found on the trunk and limbs.

Symptoms

The primary symptom of familial multiple lipomatosis is the presence of multiple lipomas on the body. These lipomas are typically painless, but can cause discomfort or pain if they press on nerves or other structures. Other symptoms can include:

  • Fatigue
  • Weight loss
  • Anemia

Causes

Familial multiple lipomatosis is believed to be caused by a mutation in a gene that regulates the growth of adipose tissue. This mutation is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder on to their children.

Diagnosis

Diagnosis of familial multiple lipomatosis is typically made based on the presence of multiple lipomas and a family history of the condition. Imaging tests such as ultrasound or MRI may be used to confirm the diagnosis.

Treatment

Treatment for familial multiple lipomatosis is typically focused on managing symptoms and improving quality of life. This can include surgical removal of lipomas that are causing discomfort or pain.

See also

References

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