• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
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  • Complete Report

Madelung’s Disease


Last updated: November 17, 2020
Years published: 1990, 1999, 2005, 2020


NORD gratefully acknowledges Jobanpreet Dhillon, MDCM Candidate, McGill University School of Medicine, and Prof. M.C. Vantyghem, MD, PhD, Endocrinology, Diabetology, Metabolism and Nutrition Department, Lille University Hospital, Lille, France, for assistance in the preparation of this report.

Disease Overview


Madelung’s disease is a rare disorder of fat metabolism (lipid storage) that results in an unusual accumulation of subcutaneous fat (adipose tissue) deposits around the neck, shoulders, trunk, hips, upper arms and thighs. The fat masses can progress quickly over months or slowly over years. Face and legs are usually spared in this benign condition, and biochemical parameters can also remain within normal limits. Madelung’s disease can be mistaken for obesity due to the symmetrical deposition of fat. Although painless, the fatty tumors can compromise function of other structures in the affected area causing patients to experience symptoms such as difficulty swallowing, speaking and breathing.

Adult males between ages 30-70 with a history of excessive drinking (chronic alcoholism) are most often affected, although women and those who do not drink alcohol can also get Madelung’s disease. This condition is more common in Mediterranean and European populations, and less frequent in Asian populations. The underlying causes of this condition aren’t fully understood which can lead to limitations in treatment options. Scientists have suggested that a dysregulation in the fat breakdown (lipolytic) pathway could be the culprit behind the excessive growth and division of fat cells (adipocytes). Familial cases with an autosomal dominant inheritance pattern have also been noted. For now, surgical removal of the fatty tumors through resection (lipectomy) or liposuction remains the primary treatment. Unfortunately, the effectiveness of current treatment options is limited as the disease has a high tendency to reoccur.


Madelung’s disease was first described by Benjamin Brodie in 1846, and then later as ‘fat neck’ (Fetthals) by Otto Madelung in 1888.

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  • benign symmetrical lipomatosis (BSL)
  • cephalothoracic lipodystrophy
  • launois-bensaude syndrome
  • multiple symmetric lipomatosis (MSL)
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Signs & Symptoms

Madelung’s disease is characterized by the presence of fatty tumors (lipomas) located symmetrically around the neck, shoulders, trunk, hips, upper arms and thighs. While these abnormal fatty tumors may grow over the course of months to years, the disease usually demonstrates a rapid progression at first and then slows down as the size of the fatty mass stabilizes. The rest of the body may be lean in contrast to the affected parts.

In 1984, Enzi classified two variants of Madelung’s disease – type 1 and 2 – based on where the excess fat accumulated. The more frequent type 1 variant is common in males and manifests as fatty tumors primarily around the neck (known as ‘Madelung’s collar’) and upper shoulders with relative sparing of the trunk and arms. As a result, type 1 variant patients have a ‘pseudo-athletic’ appearance. In contrast, the type 2 variant is observed in both males and females equally and resembles ‘generalized obesity’ as the fatty deposition occurs in the trunk, upper portion of arms, abdomen, hips and upper thighs. In 1991, a type 3 (gynecoid type) variant was added to the classification characterized by fat accumulation primarily in the pelvic region.

Peripheral neuropathy, or impaired function of the nerves in the arms and legs, often accompanies Madelung’s disease, especially as the affected person grows older. However, these neurological deficits may be difficult to distinguish from the long-term effects of alcoholism when overuse of alcohol is a factor. Nevertheless, the peripheral neuropathy may lead to decreased power in the muscles of the upper (proximal) portion of the arms and legs (myopathy). Symptoms can also arise from the fatty masses compressing important structures in the neck such as the airway (trachea), voice box (larynx), esophagus, and carotid blood vessels. Depending on the severity of the disease, the fatty tumors may cause patients to experience difficulty breathing (dyspnea), swallowing (dysphagia) and speaking (dysphonia). The patient can present with limited mobility of the neck and may even develop sleep apnea as the disease progresses. It is important to note that the physical changes in a patient’s body resulting from the excessive fatty deposition can take a toll on the patient’s mental health and lead them to suffer from depressive disorders. Social loss (ex. difficulty performing or maintaining a job) due to impaired mobility and other issues has been reported in patients.

There are metabolic abnormalities and other conditions usually associated with Madelung’s disease. These include diabetes mellitus, hypertension, hypothyroidism, liver disease and gout. A vast majority of the patients (~90%) diagnosed with Madelung’s disease have secondary (alcohol-induced) liver cirrhosis. Although rare, some cases have demonstrated malignant transformation and association of the disease with airway and digestive tract malignancies.

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The exact cause of Madelung’s disease is not fully understood. The body’s inability to properly metabolize fat indicates that it may be an endocrine disorder. One theory is that a defect in the adrenergic (epinephrine or norepinephrine)-stimulated fat breakdown (lipolysis) process results in improper deposition of fat. Alcohol can also negatively impact the enzymatic processes in mitochondria (energy-supplying part of the cell) and can alter adrenergic lipolysis in the body. Radial red fibers in the muscles of Madelung’s patients have often been found, indicating a sign of impaired mitochondrial respiratory chain function. Some researchers have noted that the distribution and type of fat cells in the fatty tumors is similar to the brown fat found in infants. Linking this to the aforementioned theory, one study suggested that the fatty tumors formed in Madelung’s disease result from impaired mitochondrial regulation in the brown fat, causing increased division of fat cells (adipocyte hyperplasia). While current research suggests adrenergic pathways and mitochondrial dysfunction to be implicated in Madelung’s disease, a clear picture of the pathogenesis is yet to be determined.

Most occurrences of Madelung’s disease tend to be sporadic, with no family history of the disease. However, some scientists believe a predisposition to the disorder may be inherited from parents (in this case, maternal inheritance) and there have been some reports of cases that appear to be familial. The mode of transmission has been suspected to be autosomal dominant in nature with a variable penetrance in mitochondrial DNA.

Dominant genetic disorders occur when only a single copy of a non-working gene is necessary to cause a particular disease. The non-working gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the non-working gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

Madelung’s disease research on multigenerational blood-related family members showed that each affected member carried an ultrarare MTTT c.8344A>G mutation in their mitochondrial DNA. Similarly, in another study, siblings with Madelung’s disease demonstrated mutations in the gene encoding for the enzyme that breaks down fat (lipase), thereby depressing the fat breakdown pathway. Disease-causing mutations have also been reported in the MFN2 gene encoding mitofusin 2 (a key protein in many mitochondrial processes) and the LIPE gene encoding the hormone sensitive lipase (protein involved in breaking down stored fats). While these are promising breakthroughs, science currently lags behind in understanding the full molecular pathway responsible for Madelung’s disease.

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Affected populations

Madelung’s disease most frequently affects males between 30-70 years of age, with a male to female ratio ranging from 15-30:1. The condition is most common in those who consume excessive amounts of alcohol (especially red wine), for a long period of time. However, this disease is also found in women and persons who do not consume alcohol. For reasons that are unclear, the disorder appears to be more prevalent in Mediterranean and European population as compared to North American and Asian population.

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The diagnosis of Madelung’s disease is based on a good clinical history, careful assessment of the appearance of the patient, and imaging tests such as ultrasound, computerized tomography (CT)-scan or magnetic resonance imaging (MRI). Imaging tests can allow physicians to recognize the extent of fat deposition in the affected areas, appreciate compression of deeper structures, and assess the presence of blood vessels in the fatty tumors. Furthermore, imaging tests can help rule out other diagnoses and provide insight for pre-operative surgical planning. In most cases, patients come in with a complaint of their appearance due to the cosmetic deformity associated with Madelung’s disease. The diagnosis can be challenging in cases where the patient is obese from other factors (sedentary lifestyle, poor diet, etc.).

Clinical Testing and Work-Up

Clinical work-up involves physical examination and imaging of the affected area using ultrasound/sonography, CT-scan or MRI. A procedure known as fine needle aspiration (FNA) may be performed, involving insertion of a needle into the swelling and obtaining a small sample of the tissue to be analyzed by pathology for fatty (lipomatous) lesion. FNA procedure may also help distinguish between benign and malignant forms of disease.

Nerve conduction and muscle function studies (electromyography) might be done to assess the degree of accompanying peripheral neuropathy for some patients.

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Standard Therapies


Treatment usually consists of surgical removal of the fatty deposits from the affected areas. Treatment options include surgical resection of fatty tumor(s), liposuction, or injection lipolysis. Surgical interventions may be complicated by high number of blood vessels supplying the fatty tumor, as well as fat invasion into nearby tissues and deeper structures. Ultrasound-assisted liposuction has been used successfully to remove single fatty tumors.

The fat deposits never undergo spontaneous degeneration and can reoccur even after surgical removal. Therefore, frequent follow-ups are required after treatment. Fibrosis and adhesions can form after lipolysis injection and may interfere with subsequent surgical or liposuction treatment if the disease were to reoccur in the same area.

Unfortunately, drug therapy has not been highly effective in the treatment of Madelung’s disease thus far. The effectiveness of salbutamol in helping fat breakdown through beta-adrenergic receptor stimulation is being tested as a potential therapeutic agent, but results have been inconsistent.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

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Cui Y, Cui X, Gao S, et al. Multiple symmetric lipomatosis with secondary laryngeal obstruction: A case report. Medicine (Baltimore). 2020;99(27):e21014.

Prahlow SP, Kosciuk P, Prahlow JA. Multiple symmetric lipomatosis. J Forensic Sci. 2018;63(1):312-315.

Szewc M, Sitarz R, Moroz N, et al. Madelung’s disease – progressive, excessive, and symmetrical deposition of adipose tissue in the subcutaneous layer: case report and literature review. Diabetes Metab Syndr Obes. 2018;11:819-825.

El Ouahabi H, Doubi S, Lahlou K, et al. Launois-bensaude syndrome: a benign symmetric lipomatosis without alcohol association. Ann Afr Med. 2017;16(1):33–34.

Wollina U, Heinig B. Madelung’s disease – case series and treatment by tumescent liposuction or lipectomy. Open Access Maced J Med Sci. 2017;5(4):427–431.

Zolotov S, Xing C, Mahamid R, et al. Homozygous lipe mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. Am J Med Genet A. 2017;173(1):190–194.

Nisi G, Sisti A. Images in clinical medicine. Madelung’s disease. N Engl J Med. 2016;374(6):572.

Zielińska-Kaźmierska B, Lewicki M, Manowska B. Madelung disease. Postepy Dermatol Alergol. 2015;32(5):400-403.

Jang JH, Lee A, Han SA, et al. Multiple symmetric lipomatosis (madelung’s disease) presenting as bilateral huge gynecomastia. J Breast Cancer. 2014;17(4):397–400.

Ardeleanu V, Chicos S, Georgescu C, et al. Multiple benign symmetric lipomatosis – a differential diagnosis of obesity. Chirurgia. 2013;108(4):580–583.

Plummer C, Spring PJ, Marotta R, et al. Multiple symmetrical lipomatosis – a mitochondrial disorder of brown fat. Mitochondrion. 2013;13(4):269–276.

Yeh NC, Yang CY, Chou CW, et al. Madelung’s disease. J Clin Endocrinol Metab. 2012;97(9):3012–3013.

Medappil N, Vasu TA. Madelung’s disease: a spot diagnosis. Indian J Plast Surg. 2010;43(2):227-228.

Alameda YA, Torres L, Perez-Mitchell C, et al. Madelung disease: a clinical diagnosis. Otolaryngol Head Neck Surg. 2009;141(3):418-419.

Suresh Chandran CJ, Godge YR, et al. Madelung’s disease with myopathy. Ann Indian Acad Neurol. 2009;12(2):131-132.

Heike Z, Gudrun UM, Frank RD, et al. Multiple benign symmetric lipomatosis – a differential diagnosis of obesity: is there a rationale for fibrate treatment?. Obes Surg. 2008;18(2):240-242.

Colella G, Giudice A, Moscariello A. A case of Madelung’s disease. J Oral Maxillofac Surg. 2005;63(7):1044-1047.

Dabrowska A, Tarnowska C, Jałowinski R, et al. Tłszczakowatość uogólniona w otolaryngologii-jako problem diagnostyczny i terapeutyczny [Multiple symmetric lipomatosis in the otolaryngology as diagnostic and therapeutic problem]. Otolaryngol Pol. 2005;59(5):717-722.

Gonzalez-Garcia R, Rodriguez-Campos FJ, Sastre-Perez J, et al. Benign symmetric lipomatosis (madelung’s disease): case reports and current management. Aesthetic Plast Surg. 2004 May 28 [Epub ahead of print].

Busetto L, Strater D, Enzi G, et al. Differential clinical expression of multiple symmetric lipomatosis in men and women. Int J Obes Relat Metab Disord. 2003;27:1419-22.

Morelli F, De Benedetto A, Toto P, et al. Alcoholism as a trigger of multiple symmetric lipomatosis? J Eur Acad Dermatol Venereol. 2003;17:367-69.

Verhelle NA, Nizet JL, Van den Hof B, et al. Liposuction in benign symmetric lipomatosis: sense or senseless? Aesthetic Plast Surg. 2003;27:319-21.

Faga A, Valdatta LA, Thione A, et al. Ultrasound assisted liposuction for the palliative treatment of Madelung’s disease: a case report. Aesthetic Plast Surg. 2001;25(3):181-183.

Ujpal M, Nemeth ZS, Reichwein A, et al. Long-term results following surgical treatment of benign symmetric lipomatosis (BSL). Int J Oral Maxillofac Surg. 2001;30:479-83.

Enzi G, Busetto L, Ceschin E, et al. Multiple symmetric lipomatosis: clinical aspects and outcomes in a long-term longitudinal study. Int J Obes Relat Metab Disord. 2002;26:253-61.

Guastella C, Borsi C, Gibelli S, et al. Madelung’s lipomatosis associated with head and neck malignant neoplasia: a study of 2 cases. Otolaryngol Head Neck Surg. 2002;126(2):191-192.

Donhauser G, Vieluf D, Ruzicka T, et al. Benigne symmetrische Lipomatose Launois-Bensaude Typ III und Bureau-Barrière-Syndrom [Benign symmetric Launois-Bensaude type III lipomatosis and Bureau-Barrière syndrome]. Hautarzt. 1991;42(5):311-314.

Enzi G. Multiple symmetric lipomatosis: an updated clinical report. Medicine (Baltimore). 1984;63(1):56-64.

Multiple Symmetric Lipomatosis. Orphanet. Last update: October 2019. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2398. Accessed Sept. 24, 2020.

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Lipomatosis, Familial Benign Cervical. Entry Number; 151800: Updated March 3, 2020. https://www.omim.org/entry/151800. Accessed September 11, 2020.

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