Have you ever seen a lumpy-looking kind of growth on different parts of your body, such as the neck, abdomen, or limbs? People often become highly concerned when they have a lump appear out of nowhere, as it can be an indication of cancer. However, there are many other reasons and diseases that are characterised by the appearance of new growth. One such health condition is called Madelung’s disease.

Madelung’s disease is characterised by the appearance of symmetric fat deposits underneath the skin in different areas of the body, such as the neck, torso, upper and lower limbs, and pelvic region. Although these fatty deposits are painless, they can cause serious internal problems if they obstruct blood vessels. They can also change a patient’s appearance and potentially damage their self-image.

Overview

Madelung’s disease is a rare health condition that mainly affects a specific group of people. Other names given to this condition are multiple symmetric lipomatosis (MSL), Launois-Bensaude disease, and benign symmetric lipomatosis. Specifically, Madelung’s disease affects fat metabolism. It is proposed Madelung’s disease increases the proliferation rate of fatty cells in the body, meaning that they multiply and divide faster than normal.

Signs and symptoms of madelung’s disease

Patients are usually asymptomatic (show no symptoms). The clinical signs associated with Madelung’s disease are benign growths around the body that are usually considered painless. Typically, they continue growing over time and are known as non-capsulated fatty deposits.

Who is at risk of madelung’s disease?

Symptoms of Madelung’s disease most commonly appear in individuals between 30 and 50 years of age. People assigned male at birth (AMAB) have a higher risk of Madelung’s disease than those assigned female at birth (AFAB), with frequency ratios ranging from 15:1 to 30:1, respectively. This means that for every person with AFAB diagnosed with Madelung’s disease, there are 15-30 persons with AMAB diagnosed as well. 

Another risk factor for Madelung’s disease is ancestry, with people of Mediterranean ancestry (countries located in Southern Europe, Western Asia, and North Africa) being at a higher risk. It is estimated that 1 in 25,000 people with Italian heritage have Madelung’s disease. 

Another risk factor for Madelung’s disease is continuous alcohol consumption and smoking. Alcohol abuse has been recorded in more than 90% of cases.¹

What causes madelung’s disease?

The exact cause of Madelung’s disease remains unknown. However, risk factors associated with Madelung’s disease include chronic alcohol consumption and smoking. It has been found that alcohol intake in patients ranged from 50 to 400 mL daily, with the average intake being 148.4 ± 71.3 mL. Although Madelung’s disease normally develops during adult life, there are some familial cases recorded. In these cases, the gene for Madelung’s disease follows a dominant inheritance pattern.

What are the types of madelung's disease?

There are four recorded types of madelung’s disease:

• MSL Type I
• MSL Type II
• MSL Type III
• MSL Type IV

Although there are four subtypes of Madelung's disease, MLT Type I & Type II are the most common ones. The frequency ratio of MSL Type I to MSL Type II is 11.7:2.²

How is madelung’s disease diagnosed?

Madelung’s disease can be diagnosed via clinical examination and imaging techniques such as Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) scans.

Laboratory blood tests for the metabolic state of the patient can be performed. Typical findings for patients with Madelung’s disease are:

• Increased high-density cholesterol (HDL)
• Decreased low-density cholesterol (LDL)
• Increased triglycerides
• Impaired glucose tolerance
• Increased frequency of hyperuricemia (high levels of uric acid in the blood)

Complications of madelung’s disease

Some of the most common complications associated with Madelung’s disease include:

• Venous compression - refers to when the fatty tissue deposits compress blood vessels, restricting blood supply to muscles and tissues.
• Complications related to alcohol abuse.

Treatment

The only effective treatment currently available for Madelung’s disease is surgery. However, this carries a recurrence rate of up to 63%. However, some lifestyle modification recommendations, such as stopping alcohol consumption and weight loss, can reduce the chance of the fatty deposits returning. These lifestyle changes will not cure Madelung’s disease but could reduce your chances of further complications.³

There are two types of surgery that can be performed to treat Madelung’s disease:

• Liposuction – the process of inserting a metal rod and melting away the fat cells without removing any skin.
• Lipectomy – the process of removing excess fat, as well as skin.

Even though surgery will help remove the fatty deposits, some complications can occur - so you should consider your options carefully before choosing surgery. Some of the complications include:

•   Seroma (the accumulation of fluid under the skin)
•   Haematoma (bruising)
•   Infection
•   Numbness

FAQs

What is madelung’s disease also known as?

Madelung’s disease is also known as multiple symmetric lipomatosis (MSL), Launois-Bensaude syndrome, and benign symmetric lipomatosis.⁴

Who is most at risk of madelung’s disease?

People between the ages of 30-50 years old and of Mediterranean heritage - e.g. Egypt, Morocco, Syria, Israel, Italy, Spain, and Malta are at an increased risk of Madelung’s disease. Indeed, 1 in 25,000 people with Italian heritage have Madelung’s disease.

Is madelung’s disease life-threatening?

The mortality rate for Madelung’s disease is 17.8 in 1,000 deaths per year and this is caused mainly by the occurrence of further complications such as venous compression, resulting in restricted blood flow.

What are the signs and symptoms of madelung’s disease?

Patients with Madelung’s disease are usually asymptomatic (meaning that they do not show any symptoms). The clinical signs associated with Madelung’s disease are benign growths around the body that are usually painless. Typically, they continue growing over time and are known as non-capsulated fatty deposits.

What are the possible complications of madelung’s disease?

• Mediastinal syndrome (obstruction of the airways or/and cardiac(heart) or thoracic blood vessels obstruction)
• Tracheobronchial obstruction (blocked airway)
• Dysphagia (difficulty swallowing)
• Restricted neck movement (dependent on the area of the benign growth)

What are the risk factors for madelung’s disease?

• Sex - people assigned male at birth (AMAB) have a much higher risk of Madelung’s disease.
• Chronic smoking - seen in 53% of cases.
• Chronic alcohol consumption - seen in 90% of cases.
• Obesity

Summary

Madelung’s disease is a very rare fat metabolism disorder that is associated with the appearance of symmetric, non-encapsulated fatty deposits in different areas of the body. These deposits may appear on the neck, torso, pelvic region, or upper and lower limbs. There are four subtypes of Madelung’s disease, with Type I being the most common. The condition is more common in people assigned male at birth (AMAB) and among those with Mediterranean heritage. Alcohol abuse is highly associated with Madelung’s disease, but other risk factors include smoking and obesity. Patients are usually asymptomatic and tend to develop signs of Madelung’s disease (benign growths) around 30-50 years of age. Whilst Madelung’s disease growths tend to be painless, complications can occur that can be life-threatening. 

Madelung’s disease is diagnosed and monitored using imaging techniques as well as clinical examination. At present, the only available treatment option for Madelung’s disease is surgery, and there are two types that can be performed: lipectomy and liposuction. However, it should be noted that the recurrence rate can be up to 63% and potential complications can occur post-operation.