Madelung’s Disease

Madelung’s Disease (multiple symmetrical lipomatosis) is a rare lipid metabolic disorder characterised by often large, diffuse, unencapsulated adipose tissue (lipomas) typically in the maxillofacial region, neck, shoulders, limbs and trunk. The disease is most common in middle-aged men and although a difinitive cause has not been established, alcohol abuse appears to be a significant factor^​1​ occuring in more than 90% of cases^​2​. The disease is also known as Launois-Bensaude syndrome, multiple symmetrical lipomatosis, or benign symmetrical lipomatosis.

The disease is not painful and develops slowly in most cases^​3​. Most patients will suffer from embarrassment resulting from cosmetic deformity. Patients with neck involvement results in a specific sign known as a horse collar, or Madelung’s collar^​2​. The fatty deposits do not indicate malignancy and, while disfiguring, may not impair functioning except in severe cases with may produce additional compression symptoms including dysphagia and dyspnea as the mass compresses the pharynx or trachea.

Madelung’s disease is frequently associated with additional comorbidities such as diabetes mellitus, chirrhosis of the liver, hypertension, nephropathy and neuropathy (particularly in the extremities).

There are two types of Madelung’s Disease which can be distinguished by their clinical characteristics. Type I occurs predominantly in men, typically as a symmetrical distribution of superficial fatty masses with a pseudo athletic appearance. Type II can occur in both men and women and will typically present similar to generalised obesity^​1​.

Etiology

The ethology of Madelun’s disease has not been established, but recent evidence has implicated mitochondrial dysfunction resulting from mutations of the mitochondrial DNA. Reduced adrenergic-mediated lipolysis is thought to be the primary mechanism brought on by further changes in enzyme and membrane receptor activity. It is thought that alcohol abuse may serve as a predisposing or aggravating factor^​4​.

Treatment Options

Lipectomy an liposuction are typically the most effective treatments of Mandelun’s disease. While liposuction is considered less traumatic, lipectomy is conserved the standard treatment in severe cases, or cases involving multiple body structures or producing compression symptoms^​1​.