Madelungs Disease

What is Madelung’s Disease?

Also known as multiple symmetric lipomatosis or benign symmetric lipomatosis, Madelung’s disease is a rare disorder of fat metabolism that results in symmetrical adipose tissue (fat cells) deposits around the neck, shoulders, trunk, hips, upper arms, and/or upper thighs. These deposits are made up of encapsulated lipomas, which can cause the neck to appear significantly widened or swollen, leading to physical discomfort and emotional distress.

Symptoms of the Condition

Though not cancerous, the fatty masses associated with Madelung’s disease can impact appearance, mobility, and even breathing in severe cases.

Madelung’s disease presents in two main forms:

Madelung’s Disease Type 1

• Most common in men.
• Characterized by distinct, symmetrical fat deposits in the upper body, such as around the neck (“horse collar” appearance), upper arms, upper back, and chest.
• Fat accumulation tends to spare the lower body.
• May be accompanied by neurologic symptoms, such as numbness, tingling, or weakness due to nerve compression.

Madelung’s Disease Type 2

• Occurs in both men and women.
• Fat is more evenly distributed across the body, often mimicking obesity.
• Deposits appear around the upper arms, hips, buttocks, and thighs.
• Neurological symptoms are less common in this type.

Causes and Risk Factors

The exact cause of Madelung’s disease is not fully understood, but it may be linked to mitochondrial dysfunction. One of the most common associations is chronic alcohol consumption, which is present in the majority of diagnosed cases. However, not all individuals with Madelung’s disease have a history of alcohol abuse, indicating that other factors also play a role. Genetic predisposition, particularly involving mutations in mitochondrial DNA, may contribute to the development of the condition.

It most commonly affects middle-aged men between the ages of 30 and 60 and appears to be more common among individuals of Mediterranean and European populations. In addition, some patients have underlying metabolic disorders such as diabetes mellitus, liver disease, or thyroid dysfunction, which may further complicate the progression of the disease.

Diagnosing Medelung’s Disease

Madelung’s disease is typically diagnosed through a combination of medical history, physical examination, and imaging studies. Diagnosis can be more challenging in individuals with obesity from other causes.

Imaging tests, such as ultrasound, computed tomography (CT scans), and magnetic resonance imaging (MRI), help determine the extent of fat deposits, assess any compression of deeper structures, and rule out other conditions. These scans also assist in surgical planning. In some cases, a fine needle aspiration may be performed to confirm the fatty nature of the tissue and rule out malignancy.

If neurological symptoms are present, additional tests like nerve conduction studies or electromyography (EMG) may be used to evaluate potential nerve involvement. At Total Lipedema Care, Dr. Schwartz uses advanced diagnostic tools to ensure a clear and accurate clinical diagnosis for every patient.

Treatment Options

While there is currently no cure for Madelung’s disease, treatment focuses on managing symptoms, improving appearance, and enhancing quality of life. Importantly, Madelung’s disease differs from general obesity, as the abnormal fat deposits do not respond to traditional weight loss methods such as diet and exercise. At Total Lipedema Care, Dr. Schwartz offers personalized care plans that may include:

• Liposuction: A preferred option for removing excess fat deposits with precision. Ultrasound-assisted liposuction techniques can reduce bulk while preserving surrounding structures.
• Surgical Excision: In some cases, surgical treatment, or direct surgical removal of lipomas, is needed, especially when liposuction alone is not sufficient.
• Lifestyle Modifications: Reducing alcohol intake and managing metabolic conditions may slow the progression.
• Monitoring and Support: Regular follow-up to monitor recurrence and provide ongoing support for your health and well-being.

Each treatment plan is designed around the individual, with careful attention to both function and aesthetics.

Schedule a Consultation

If you or a loved one may be experiencing signs of Madelung’s disease, don’t wait. Early evaluation can make a significant difference in managing the condition. Patients travel from all over the United States and abroad to receive care from Total Lipedema Care‘s team of leading experts, who are known for offering the most advanced and effective treatments for rare diseases such as Madelung’s disease. Contact our Beverly Hills office today to schedule your personalized consultation with Dr. Schwartz.

Madelung’s Disease FAQs

How rare is Madelung’s Disease?

Madelung’s disease is very rare. According to studies, approximately 600 cases of this condition have been reported in various countries.

Can you cure Madelung’s Disease?

There is no cure, but treatment focuses on improving symptoms and appearance. Surgical removal or liposuction of the fat deposits is the most common and effective option. At Total Lipedema Care, Dr. Schwartz offers personalized treatment plans using advanced techniques to safely and effectively manage the condition.

Is Madelung’s Disease life-threatening?

Madelung’s disease itself is not typically life-threatening, but complications can arise if the fat deposits compress vital structures like the airway, esophagus, or major nerves. In rare cases, this can lead to breathing difficulties, swallowing problems, or nerve damage, making medical evaluation important.

Can the fat deposits grow back after treatment?

Yes, recurrence is possible, especially if the underlying cause (such as alcohol use) is not addressed. Surgical removal or liposuction can significantly reduce symptoms and improve appearance, but long-term monitoring and lifestyle changes are important to manage recurrence.