Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person. Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain. The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve. In the majority of cases, the condition does not lead to cancer; however, lipomas can become cancerous in rare circumstances. The exact cause of the condition is unknown, but it may be associated with mutations in mitochondrial DNA. Treatment may include medications to correct associated metabolic conditions, surgery or liposuction to remove the lipomas, and avoidance of alcohol.

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.

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.

People with multiple symmetric lipomatosis may also develop:

• Peripheral neuropathy
• Neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues
• Other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease

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.

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.

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.