Multiple symmetric lipomatosis

Alternate names

Benign symmetrical lipomatosis; Launois-Bensaude syndrome; Madelung's disease; Familial symmetric lipomatosis; Madelung disease

Definition

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.

Riskfactors

• 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.

Cause

• 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.

Inheritance

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.

Signs and symptoms

• The signs and symptoms of multiple symmetric lipomatosis vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk.
• In some people with the condition, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years.
• The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain.
• In the majority of cases, the disease not lead to cancer; however, they can become cancerous in rare circumstances.

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.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Arthralgia(Joint pain)
• Joint stiffness(Stiff joint)
• Multiple lipomas(Multiple fatty lumps)

30%-79% of people have these symptoms

• Gait disturbance(Abnormal gait)
• Hepatomegaly(Enlarged liver)
• Insulin resistance(Body fails to respond to insulin)
• Paresthesia(Pins and needles feeling)
• Reduced tendon reflexes

Diagnosis

• 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.

Treatment

• 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.

NIH genetic and rare disease info

• NIH info on Multiple symmetric lipomatosis

Multiple symmetric lipomatosis is a rare disease.

Multiple symmetric lipomatosis Resources
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