Multiple Symmetric Lipomatosis (MSL) is an uncommon disorder involving the accumulation of fatty tissue. Also known as Madelung’s disease or Launois-Bensaude syndrome, it is defined by the growth of multiple, benign fatty tumors called lipomas in a symmetrical pattern. The condition progresses slowly, with deposits of fat growing over time.
Symptoms and Physical Presentation
The primary sign of Multiple Symmetric Lipomatosis is the gradual, symmetrical buildup of unencapsulated fat tissue. These deposits most often appear on the neck, shoulders, and upper back, creating a distinct appearance referred to as a “Madelung’s collar” or “horse collar.” The growths can also emerge on the upper arms, chest, and trunk.
While the lipomas themselves are soft and painless, they can lead to secondary issues as they enlarge. The mass of the fatty tissue may result in a loss of neck mobility and pain if a nerve becomes compressed. In advanced cases, the growths can press on internal structures, which may cause difficulty swallowing (dysphagia) or interfere with breathing by obstructing the airway (dyspnea).
The disease’s progression involves a period of rapid initial growth, followed by slower, progressive enlargement of the adipose deposits. Patients might first seek medical attention for cosmetic reasons or because of difficulties with dressing. The physical deformity caused by the lipomas can also lead to emotional distress and anxiety.
Associated Causes and Risk Factors
The development of Multiple Symmetric Lipomatosis is linked to a history of chronic and excessive alcohol consumption. This association is observed in up to 90% of diagnosed individuals, making it the primary risk factor. While the exact mechanism is not fully understood, the connection is well-documented.
Beyond alcohol use, a genetic component exists in some cases. Certain familial instances of the disorder have been connected to mutations in mitochondrial DNA. These genetic changes are thought to affect how the body produces and uses energy. In rare instances, mutations in the MFN2 and LIPE genes have been reported as a cause.
MSL is diagnosed in middle-aged men, between the ages of 30 and 60, and has a higher prevalence among individuals of Mediterranean and European descent. Although it is much more frequent in men, with a male-to-female ratio from 15:1 to 30:1, women and non-alcoholics can also be affected.
The Diagnostic Process
Diagnosing Multiple Symmetric Lipomatosis begins with a physical examination and a detailed review of the patient’s medical history. A doctor will observe the symmetrical pattern of fat distribution and inquire about alcohol consumption and any family history of the condition.
To confirm the diagnosis and understand the extent of the condition, imaging studies are employed. Computed tomography (CT) scans or magnetic resonance imaging (MRI) visualize the fatty deposits. These scans help doctors verify the presence of non-encapsulated fat tissue and assess whether the masses are compressing nearby structures, such as the trachea or esophagus.
In some cases, a biopsy may be performed to rule out other conditions. This step is taken to exclude the possibility of a cancerous tumor, such as liposarcoma, although this is a rare occurrence in the context of MSL.
Available Treatment Options
Treatment for Multiple Symmetric Lipomatosis is pursued for cosmetic reasons or to alleviate symptoms caused by tissue compression. No medications are available that can reverse or cure the condition. The management strategy centers on surgical intervention and addressing underlying risk factors.
Primary treatments involve the surgical removal of the excess fatty tissue. Procedures such as surgical excision (lipectomy) or liposuction can reduce the size of the lipomas. Ultrasound-assisted liposuction is another option. There is a high rate of recurrence, as the fatty tissue often grows back after removal.
Addressing the primary risk factor is part of managing the disease’s progression. Complete cessation of alcohol intake is recommended. While stopping alcohol consumption may not reverse existing lipomas, it can help slow or halt the development of new fatty deposits and reduce the likelihood of recurrence after surgery.