Madelung disease

Madelung disease, also known as multiple symmetric lipomatosis (MLS), benign symmetric lipomatosis (BSL) or Launois-Bensaude syndrome, is a rare metabolic condition characterized by symmetric, non-encapsulated (unlike lipomas) fat deposits on the patient’s body, usually around the neck, but in some cases also around shoulders, the upper trunk, chest and limbs. It was first described by Benjamin Brody in 1846. In 1888, Otto Madelung presented 35 cases of this disease. In 1898, Launois and Bensaude described another 30 cases of patients with excessive adipose tissue growth around the neck, nape, back and shoulders. This new disease was called Madelung disease or Launois-Bensaude syndrome. From then to the end of 2002, there were around 300 reports presenting cases of patients with this disease in the medical literature [1, 2]. Launois-Bensaude syndrome may cause breathing difficulties and problems in everyday functioning as it progresses, therefore it requires starting the treatment. However, the most common reasons why the patients decide to undergo treatment isaesthetics and the worsening perception of themselves [3, 4].
Multiple symmetric lipomatosis most often affects white middle-aged men from the Mediterranean population, who have a history of alcohol abuse [3, 5]. Depending on the disease type, fat deposits can be located around the neck and nape, in the shape of a horse collar; parotideomasseteric areas, resembling hamster’s cheek pouches; around shoulders, the back and chest giving the patient’s body a pseudo-athletic appearance [1, 4–6]. The disease is characterized by the creation of new fat cells (like in the case of pregnant women or infants) instead of an increase in the size of the existing ones [4, 7]. It is not yet fully understood what causes the disease. Sixty-ninety percent of patients abuse alcohol and suffer from secondary cirrhosis [8]. There is a theory which suggests that alcohol can influence physiological enzymatic process disorders in mitochondria. Alcohol excess impairs adrenergic lipolysis and may lead to uncontrolled emergence of fat deposits in different parts of the body [6]. It is important to notice that discontinuation of alcohol consumption has no effect on further disease progress [9].
Madelung disease is often accompanied by hypothyroidism, diabetes, megalocytic anemia, cirrhosis caused by alcohol abuse, epilepsy, or polyneuropathies connected with alcohol-related demyelination [1, 5]. In differential...


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