What are the other Names for this Condition? (Also known as/Synonyms)

• Launois-Bensaude Syndrome
• Madelung’s Disease
• Multiple Symmetric Lipomatosis (MSL)

What is Madelung Disease? (Definition/Background Information)

• Lipomatosis is a benign condition of fatty tissue overgrowth, when abnormal levels of fat are spread over a wide area in the body with an uneven distribution pattern. The fatty tissues can even infiltrate the underlying or adjacent muscle layers
• Madelung Disease is an abnormal condition of excess fatty tissue formation primarily around the neck and lower jaw region, in a symmetrical fashion. In many cases, the affected individuals are known to have a history of alcoholism
• The condition is frequently observed in middle-aged men of Mediterranean ancestry for some unknown reason. The cause of Madelung Disease is not well understood, but some researchers speculate that it may be due to a breakdown of the body’s endocrine system
• The signs and symptoms of Madelung’s Disease depend upon the body area that is affected. Common regions involved include the head and neck area, shoulder, and upper arms
• Complete excision by surgery or liposuction is the preferred treatment option for Madelung Disease presenting significant symptoms. Nevertheless, the recurrence rate of the tumor following surgery is high
• The prognosis of Madelung Disease depends upon the severity of the signs and symptoms and the underlying cause of the condition among other factors

Who gets Madelung Disease? (Age and Sex Distribution)

• Madelung’s Disease is typically seen in adults (age 30-70 years), especially those who are alcoholic
• There is a male predominance, though both males and females are affected
• Generally, there is no known geographical, racial, or ethnic preference
• However, the condition is more common in middle-aged Mediterranean men; in whom a symmetric presentation of lipomatosis is observed. In this category of individuals, some studies indicate that the male-female ratio is as high as 15:1

What are the Risk Factors for Madelung Disease? (Predisposing Factors)

The following risk factors have been identified for Madelung Disease:

• Chronic alcoholism: Many individuals have a history of excess alcohol consumption
• Middle-aged men (age 30-50 years) of Mediterranean descent have a high risk for the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Madelung Disease? (Etiology)

The exact cause and mechanism of Madelung Disease formation is unknown.

• However, since fat deposits form at various locations in the body, it is believed that there is a disruption of the endocrine system resulting in impaired body fat metabolism
• Consequently, it is proposed that the body may be predisposed to Madelung Disease or may have inherited the condition
• Some researchers believe that it may be due to genetic mutations in mitochondrial DNA

Study reports indicate that as many as 90% of the cases may be reported in men who are chronically known to abuse alcohol. Women and men, who are not alcoholics, are also known to be affected by Madelung Disease. The reason for the same is yet to be unidentified.

What are the Signs and Symptoms of Madelung Disease?

In a majority of Madelung Disease cases, the affected individuals have excessive fat deposition that presents like a mass. The fatty tissue deposition or overgrowth is seen to occur above the chest level (trunk) at multiple locations, giving rise to associated signs and symptoms. The symptoms can vary significantly from one individual to another.

• Typically the neck and region around the lower jaw is affected; a slow- or fast- growing ‘mumps-like’ symmetrically-shaped swelling may form, but all around the neck
• The other affected areas include the chest and upper back area (trunk), shoulders, arms, and head
• The deposit of fatty tissue may be massive in some cases leading to lack of mobility of the affected body part, such as the neck
• There may be pain associated with the swelling
• The central nervous system (CNS) may be involved with the peripheral nerves being affected causing numbness and weakness (peripheral neuropathy)
• Sometimes, conditions that affect body metabolism, such as diabetes, liver disease, or high blood pressure, may be present
• Signs and symptoms due to long-term alcohol abuse (if any) may also be observed

Note: Excess fat collection in the neck region can lead to obstruction of the larynx and compression of adjoining structures, including the blood vessels (vena cava).

How is Madelung Disease Diagnosed?

A diagnosis of Madelung Disease is made using the following tools:

• Complete physical examination with thorough evaluation of the individual’s medical history (including history of alcoholism, if present)
• CT and MRI scan of the affected region: It can show the extent of fat accumulation in various parts of the body
• Tissue biopsy: A tissue biopsy is performed and sent to a laboratory for a pathological examination, who examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Madelung Disease?

The complications from Madelung Disease could include:

• Emotional stress from physical deformity and impaired movement of neck. The quality of life can be severely affected
• In some cases, the excess fat accumulation around the neck may compress the larynx resulting in blocked windpipe; this can even result in death
• Occasionally, the lipomas (fatty tumor masses) are known to undergo malignant transformations
• Damage to the adjacent organ or nerve during surgery to remove the fatty tissue mass
• Recurrence after surgery at the same location
• Individuals, who are alcoholics, may additionally be present with complications including liver disease or liver cancer

How is Madelung Disease Treated?

The treatment measures for Madelung Disease may include the following:

• In case significant signs and symptoms are not observed, then conservative therapy through lipid-lowering medications (such as statins) may be suggested
• Surgical excision with removal of the entire tumor from the neck, chest, shoulders, etc. can be attempted for severe cases. However, since recurrence of the tumor is high, surgery is undertaken to offer relief from symptoms
• Liposuction: The removal of excess body fat by suction using specialized surgical equipment
• Treatment for alcohol abuse through abstinence, counseling, group therapy, and medications to manage withdrawal symptoms
• Treatment to address the underlying metabolic condition(s)
• Follow-up care with regular screening and check-ups are important and encouraged

How can Madelung Disease be Prevented?

Current medical research has not established a way of preventing Madelung Disease. However, some of the risk factors for the condition may be reduced or addressed:

• Avoid the consumption of alcohol in excess; complete abstinence is highly recommended
• Promptly addressing and treating any liver condition or liver disease

What is the Prognosis of Madelung Disease? (Outcomes/Resolutions)

• The prognosis of Madelung Disease (benign tumor) depends upon several factors including:
  • The underlying cause of the condition
  • Severity of the signs and symptoms
  • Overall health of the individual
  • Response to treatment
• Madelung Disease may be treated through surgery, although the probability of tumor recurrence is high

Additional and Relevant Useful Information for Madelung Disease:

• Lipomatosis of Nerve is an infrequent benign tumor occurring on the surface of a nerve due to the growth of fibrous and fatty tissue

The following link will help you understand lipomatosis of nerve:

https://www.dovemed.com/diseases-conditions/lipomatosis-nerve/