Madelung's Disease

Madelung’s disease is a rare condition where extra fatty tissue builds up in places it normally wouldn’t, like around your neck and shoulders. It causes painless, fatty masses that grow over time. If the lumps get too big, they can affect nearby body functions. For example, a fatty lump around your neck might make it harder to swallow or move your neck.

Treatments like exercise, medications and eating healthy foods won’t make Madelung’s disease go away or stop it from getting worse. Your healthcare provider usually needs to remove the fatty tissue with surgery.

Other names for this condition include benign symmetric lipomatosis and Launois–Bensaude syndrome.

Symptoms of Madelung’s disease

The main symptom is having fatty deposits in areas where fat doesn’t typically collect. Most commonly, they appear on your:

• Neck
• Shoulders
• Upper back

It can make you appear hunchback or like you have a buffalo hump.

Less commonly, fatty deposits appear on your:

• Abdomen
• Chest
• Hips
• Thighs

This fatty tissue is different than a fatty lump (lipoma) or typical body fat. It doesn’t feel rubbery or hard. It spreads and mixes under your skin — looking like jelly spread on a piece of bread. It also grows evenly. For example, it will be on both the left and right sides of your shoulders.

In severe cases, the fat buildup can cause:

• Pain or discomfort from nerve pressure
• Tingling or numbness
• Difficulty breathing
• Trouble swallowing
• Limited neck or shoulder movement

Madelung’s disease causes

Healthcare providers don’t know what causes the condition. But there’s evidence it could be due to:

• Dysfunction of cells: The cells in your body don’t store or burn fat for energy the way they should. This leads to fat collecting in the wrong places.
• Lipid metabolism: Your body isn’t breaking down, storing or moving lipids (fats) where they need to go. Then, lipids build up in specific areas.
• Alcohol use disorder: Chronic alcohol use can affect how your body breaks down fat. Over time, this may lead to fat storage in unusual areas.
• Genetic factors: The link isn’t fully understood, but Madelung’s can run in families. A genetic variant could be a factor in the disease.

Risk factors

Alcohol use disorder is one of the biggest risk factors. Between 60% and 90% of people with this disease also have cirrhosis of the liver from heavy alcohol use.

Other risk factors include:

• Being male and between the ages of 30 and 70
• Having Mediterranean or European ancestry
• Having a biological family history of the disease
• Having a metabolic disorder, like diabetes or hyperlipidemia

Complications of Madelung’s disease

This condition usually isn’t dangerous, but it could lead to serious issues, like:

• Difficulty breathing or swallowing
• Sleep apnea or other sleep disruptions 
• Straining your voice or sounding hoarse
• Nerve pain that turns into neuropathy
• Limited range of motion that can affect driving a car, getting dressed or moving your head
• Being self-conscious about how you look

How doctors diagnose Madelung’s disease

To diagnose the condition, your healthcare provider may:

• Talk to you about your medical history, symptoms and alcohol use
• Perform a physical examination
• Use imaging tests (like ultrasound and CT scan) to see where fat has built up and where it’s spreading
• Run tests to help rule out other health conditions

Your provider may classify the type of Madelung’s disease you have based on where the fat has built up:

• Type 1 (classic type): This type is most common in men. Fat builds up in only your neck, shoulders and upper body. It can sometimes give you an athletic-looking appearance. It’s strongly associated with alcohol use disorder.
• Type 2: This type is more common in women, but rarer overall. Fat builds up in your upper body, like Type 1. It also builds up in your abdomen, thighs and hips. It doesn’t have a strong connection to alcohol use disorder.

How is Madelung’s disease treated?

Fatty tissue from Madelung’s disease doesn’t go away on its own, and there isn't a cure. Exercising more and changing what you eat won’t help make it smaller.

Treatment typically involves your provider removing fatty deposits with surgery or liposuction. This is usually necessary if the masses cause symptoms like difficulty breathing and swallowing, or nerve pain. Surgery isn’t a permanent solution. There's a chance the fatty tissue could grow back.

If your provider believes alcohol consumption is a factor, they’ll ask you to avoid it. If you need support doing this, they can offer guidance and resources.

People with severe liver dysfunction may not be able to have surgery.

If the fat deposits are small and not causing major problems, your healthcare provider will monitor them to make sure symptoms don’t start.

What can I expect if I have Madelung’s disease?

Getting regular care from your healthcare provider is important. While they can remove large fatty deposits that are bothering you, the deposits could come back. That’s why following your provider’s treatment plan is so important.

Your life expectancy shouldn’t change just because you have Madelung’s disease. But you’re more likely to have other related issues, like diabetes and liver disease. You can work with your healthcare provider to manage these and other health conditions so you can feel your best.