Madelung’s disease, also known as benign symmetric lipomatosis or Launois-Bensaude syndrome, is a rare disorder of fat metabolism characterized by the symmetrical accumulation of abnormal fat deposits. The condition most often affects adult males between the ages of 30 and 70, particularly those of Mediterranean or European descent. While its appearance can be mistaken for general obesity, the fat distribution is distinct, typically sparing the face and lower legs. The progression of these fatty masses can vary, developing quickly over months or more slowly over several years.
Clinical Presentation and Symptoms
The most prominent sign of Madelung’s disease is the visible, symmetrical growth of soft, painless fatty masses. These deposits most commonly appear around the neck, shoulders, upper back, and upper arms. The accumulation of fat around the neck creates a distinctive “Madelung’s collar” or “horse collar,” and a large deposit on the upper back is sometimes called a “buffalo hump.”
While the growths are typically not painful, they can become problematic as they enlarge. The expanding fat masses can press on structures in the neck and chest. This compression may lead to secondary symptoms, including difficulty swallowing (dysphagia), shortness of breath (dyspnea), or a hoarse voice.
The disease can also affect the nervous system. Some individuals experience peripheral neuropathy, causing numbness, tingling, or weakness due to nerve compression by the fatty tissue. This nerve involvement can affect autonomic functions, leading to fluctuations in heart rate and blood pressure. The physical changes and functional limitations, such as decreased neck mobility, can impact a person’s quality of life.
Causes and Associated Conditions
The precise cause of Madelung’s disease is unclear, but there is a strong link to chronic, heavy alcohol consumption, with a history of alcohol abuse present in a high percentage of diagnosed individuals. It is theorized that alcohol interferes with the normal process of fat breakdown, leading to the uncontrolled growth of fat cells (adipocytes).
Beyond alcohol, a genetic component is suspected, especially in non-drinkers. Some familial instances of the disease have been connected to inheritable mutations in mitochondrial DNA. This suggests a disruption in cellular energy metabolism contributes to abnormal fat storage.
Several metabolic conditions are frequently associated with Madelung’s disease but are not considered direct causes. These include hyperlipidemia (high levels of fat in the blood), insulin resistance or type 2 diabetes, and liver disease, which is often related to alcohol use.
Diagnosis Process
The diagnostic process for Madelung’s disease begins with a clinical evaluation. A physician conducts a physical examination, noting the characteristic symmetric pattern of the fatty growths, along with a detailed medical history. This history focuses on alcohol consumption and whether other family members have had similar symptoms.
To confirm the diagnosis and understand the extent of the condition, imaging studies are used. Computed tomography (CT) scans and magnetic resonance imaging (MRI) are preferred. These scans show the fat deposits’ size and location, and reveal if they are compressing structures like the trachea, esophagus, or major blood vessels.
A biopsy, which involves taking a small tissue sample for examination, may be performed. Its purpose is to rule out other conditions, such as a cancerous fatty tumor (liposarcoma), and to confirm the growths are benign lipomas.
Treatment and Long-Term Management
There is no cure for Madelung’s disease, so treatment focuses on managing symptoms and addressing cosmetic concerns. The abnormal fat accumulations do not respond to diet and exercise like typical body fat. The primary treatment is surgery to remove the excess tissue.
Two main surgical options are used: standard surgical excision (lipectomy) and liposuction. Lipectomy involves cutting the masses out directly, while liposuction, a less invasive approach, uses a cannula to suction the fat away. The choice of procedure depends on the size and location of the deposits.
Recurrence is common, as new fatty deposits can grow back after surgery. Long-term management is therefore an important part of the treatment plan. Ceasing alcohol consumption can slow the disease’s progression and may reduce the likelihood of recurrence. Managing associated metabolic conditions, such as diabetes or hyperlipidemia, is also part of comprehensive care.