Multiple symmetric lipomatosis

What causes multiple symmetric lipomatosis?

The exact underlying cause of multiple symmetric lipomatosis remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in people with the condition suggests that multiple symmetric lipomatosis may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Recent findings suggest that it may be related to defective regulation of mitochondria in brown fat. Alcohol consumption may also play a role in the development of the disease, since roughly 90% of affected people have a history of alcohol abuse.

Multiple symmetric lipomatosis has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, mutations in mitochondrial DNA involving the MT-TK gene have been identified in some families who have multiple symmetric lipomatosis in combination with other conditions that affect many different systems of the body.

Last updated on 05-01-20

How is multiple symmetric lipomatosis diagnosed?

Multiple symmetric lipomatosis is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies such as computed tomography (CT) scan and/or magnetic resonance imaging (MRI) scan. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of multiple symmetric lipomatosis, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.

Last updated on 05-01-20

Is multiple symmetrical lipomatosis inherited?

Although the exact cause of multiple symmetrical lipomatosis is unknown, most cases are not thought to be inherited. In rare cases, more than one family member can occasionally be affected by this condition which suggests that it may be inherited, but in most cases, the mode of inheritance has not been determined. However, changes mutations in mitochondrial DNA have been identified in some families, and in some cases autosomal dominant or mitochondrial inheritance have been described.

Last updated on 05-01-20

What is the long-term outlook for people with multiple symmetric lipomatosis?

The long-term outlook for people with multiple symmetric lipomatosis depends on the size and location of the fatty tumors (lipomas) present in each person. In most cases, the condition is considered benign. However, the masses usually grow over time and tend to have a high rate of recurrence after removal. In some people, the lipomas may grow so large that they compress surrounding tissues such as nerves, blood vessels, and muscles. This can reduce the size of the trachea (windpipe) which can lead to breathing problems and cause obstructive sleep apnea.

In extremely rare cases, lipomas can become malignant (cancerous). Head and neck cancers have also been reported in some people with the condition; however, the association between multiple symmetric lipomatosis and these cancers remains uncertain.

Although we are unaware of any studies regarding the life expectancy of people with multiple symmetric lipomatosis, the condition is reportedly associated with a 10% risk of sudden death by asphyxiation (lack of oxygen) in cases where lipomas have reduced the size of the trachea.

Last updated on 05-01-20

How might multiple symmetric lipomatosis be treated?

To date, the most effective treatment for multiple symmetric lipomatosis is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe surgery is unnecessary because the disease usually does not lead to cancer. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities.

The limitations of liposuction include incomplete removal, risk of surgical mishap, and lipomas recurrence. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas, and less chances that the lipoma recur. However, in many cases it is not possible to remove the lipomas completely, and they often recur after both of these procedures. Also, there is no consensus about the best surgical approach. Big tumors are normally removed at various stages – it depends on the size of the tumor, coagulation problems, and impaired wound healing. In some cases, it is very difficult to prevent the bleeding during the surgery. Liposuction is the least traumatic procedure, and therefore it is suggested as a complementary treatment. Magnetic resonance imaging (MRI) is useful for assessment as well as preoperative planning.

Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.

Last updated on 05-01-20

Where To Start

Cushing's Help and Support

The Cushing's Help and Support has created an information page on Madelung disease. To view the information page, click on the link.

Last updated on 04-27-20

Name: Fat Disorders Research Society PO Box 3014
Ridgefield, NJ, 07657, United States
Email: Url:

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