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Disease Profile

Multiple symmetric lipomatosis

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Benign symmetrical lipomatosis; Launois-Bensaude syndrome; Madelung's disease;


Congenital and Genetic Diseases; Metabolic disorders; Skin Diseases


Multiple symmetric lipomatosis is a rare condition characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk.[1] It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected. The signs and symptoms vary greatly from person to person.[2] Usually, accumulation of fatty tissue increases over time and may lead to a loss of neck mobility and pain.[3] The lipomas can cause physical deformity and peripheral neuropathy, when they compress a nerve. In the majority of cases, the condition does not lead to cancer; however, lipomas can become cancerous in rare circumstances.[2] The exact cause of the condition is unknown, but it may be associated with mutations in mitochondrial DNA.[3] Treatment may include medications to correct associated metabolic conditions, surgery or liposuction to remove the lipomas, and avoidance of alcohol.[2]


The signs and symptoms of multiple symmetric lipomatosis vary from person to person. The condition is characterized by the symmetric growth of fatty tumors (lipomas) around the neck, shoulders, upper arms and/or upper trunk. In some people with the condition, these fatty deposits may grow rapidly over the course of months, while others experience a slower progression over the course of years.[1] The lipomas can be associated with significant physical deformity and may lead to a loss of neck mobility and pain.[3] In the majority of cases, the disease not lead to cancer; however, they can become cancerous in rare circumstances.[2]

People with multiple symmetric lipomatosis may also develop:[4][1][5]

  • Peripheral neuropathy
  • Neurological disturbances including difficulty swallowing, hoarseness, sleep problems, tachycardia (rapid heart rate), fluctuation in blood pressure, and breathing issues
  • Other metabolic abnormalities or diseases such as hypertension, diabetes mellitus, hypothyroidism, and liver disease

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Joint pain
Joint stiffness
Stiff joint
Stiff joints

[ more ]

Multiple lipomas
Multiple fatty lumps
30%-79% of people have these symptoms
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait

[ more ]

Enlarged liver
Insulin resistance
Body fails to respond to insulin
Pins and needles feeling

[ more ]

Reduced tendon reflexes
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin
Autosomal dominant inheritance
Fatty lump
Noncancerous fatty lump

[ more ]

Peripheral neuropathy


The exact underlying cause of multiple symmetric lipomatosis remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in people with the condition suggests that multiple symmetric lipomatosis may be an endocrine disorder.[1] An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition.[6] Recent findings suggest that it may be related to defective regulation of mitochondria in brown fat.[3] Alcohol consumption may also play a role in the development of the disease, since roughly 90% of affected people have a history of alcohol abuse.[6][5]

Multiple symmetric lipomatosis has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined.[1] However, mutations in mitochondrial DNA involving the MT-TK gene have been identified in some families who have multiple symmetric lipomatosis in combination with other conditions that affect many different systems of the body.[7][3][8]


Multiple symmetric lipomatosis is usually diagnosed based on a thorough physical exam, accurate medical history, and imaging studies such as computed tomography (CT) scan and/or magnetic resonance imaging (MRI) scan. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the lipomas and surrounding tissues. Both of these tests are useful in establishing a diagnosis of multiple symmetric lipomatosis, although MRI is often the preferred method. In some cases, a biopsy of the lipomas may be necessary to confirm the diagnosis.[4][5]


To date, the most effective treatment for multiple symmetric lipomatosis is surgery which may include surgical excision (removal) and/or liposuction.[6][7] Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk.[7] Some researchers believe surgery is unnecessary because the disease usually does not lead to cancer. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities.[7]

The limitations of liposuction include incomplete removal, risk of surgical mishap, and lipomas recurrence. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas, and less chances that the lipoma recur.[7][9] However, in many cases it is not possible to remove the lipomas completely, and they often recur after both of these procedures.[6][5][9] Also, there is no consensus about the best surgical approach. Big tumors are normally removed at various stages – it depends on the size of the tumor, coagulation problems, and impaired wound healing. In some cases, it is very difficult to prevent the bleeding during the surgery. Liposuction is the least traumatic procedure, and therefore it is suggested as a complementary treatment. Magnetic resonance imaging (MRI) is useful for assessment as well as preoperative planning.[10][9]

Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.[4][6][7]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • The Cushing's Help and Support has created an information page on Madelung disease. To view the information page, click on the link.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Multiple symmetric lipomatosis. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles


            1. Madelung's Disease. NORD. April 1, 2005; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/778/viewAbstract.
            2. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann Plast Surg. January 2010; 64(1):122-124.
            3. Multiple symmetric lipomatosis. Orphanet. 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2398.
            4. Alameda YA, Torres L, Perez-Mitchell C, Riera A. Madelung disease: A clinical diagnosis. Otolaryngology-Head and Neck Surgery. September 2009; 141(3):418-419.
            5. Mimica M, Pravdic D, Nakas-Icindic E, Karin M, Babic E, Tomic M, Bevanda M. Multiple symmetric lipomatosis: a diagnostic dilemma. Case Rep Med. 2013; 2013:1-4.
            6. Ramos S, Pinheiro S, Diogo C, Cabral L, Cruzeiro C. Madelung disease: a not-so-rare disorder. Ann. Plast. Surg. January 2010; 64(1):122-124.
            7. Sia KJ, Tang IP, Tan TY. Multiple symmetrical lipomatosis: case report and literature review. J Laryngol Otol. July 2012; 126(7):756-758.
            8. MT-TK gene. Genetics Home Reference (GHR). 2014; https://ghr.nlm.nih.gov/gene/MT-TK#location.
            9. Zielinska-Kazmierska B, Lewicki M & Manowska B. Madelung disease. Advances in Dermatology and Allergology/Post?py Dermatologii i Alergologii. 2015; 32(5):400-403. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692823/.
            10. Sharma N, Hunter-Smith DJ, Rizzitelli A & Rozen WM. A surgical view on the treatment of Madelung's disease.. Clin Obes. October, 2015; 5(5):288-90. https://www.ncbi.nlm.nih.gov/pubmed/26246230.

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