Rare Immunology News

Disease Profile

Lipedema

Prevalence
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.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

X-linked
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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Categories

Blood Diseases; Congenital and Genetic Diseases; Skin Diseases

Summary

Lipedema is characterized by increased enlargement of both legs due to deposits of fat beneath the skin. Symptoms of lipedema usually occur in women and begin around times of hormonal change, such as puberty or menopause. Symptoms may include enlargement of the upper legs, arms, pain, and easy bruising. The cause of lipedema is unknown. Many people with lipedema have a family member with lipedema, and it is likely that genetic factors are involved. Diagnosis is based on the symptoms and a clinical exam. Other more common conditions may need to be ruled out before lipedema is diagnosed. Treatment of lipedema is focused on managing the symptoms and includes both non-surgical and surgical methods.[1][2][3]

 

Symptoms

The following list includes the most common signs and symptoms in people with lipedema. These features may be different from person to person. Some people may have more symptoms than others and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of lipedema may include:[2][3][4]

  • Abnormal fat deposits in both legs
  • Easy bruising
  • Pain
  • Loose skin

Symptoms of lipedema usually begin during puberty, pregnancy, or menopause. The fat deposition usually gets worse over time, although some people develop a stable form of this condition. In the early stages of lipedema, most individuals have a normal appearance above their waist. Over time, the chest, torso, abdomen, and upper extremities may also become enlarged. Some people with lipedema have depression or have trouble coping emotionally.[5][3]

Cause

The cause of lipedema is unknown. It is suspected that both hormonal and genetic factors are involved.[1][2]

Diagnosis

Lipedema is diagnosed based on the symptoms and clinical examination. Imaging studies, such as ultrasoundMRIlymphangiogram, and/or lymphoscintigraphy may be useful in diagnosing lipedema. Other conditions may need to be excluded before a diagnosis can be made.[6][2]

Classical guidelines for diagnosing lipedema include the following criteria: occurrence almost exclusively in women; bilateral and symmetrical presentation with minimal involvement of the feet; minimal pitting edema, pain, tenderness, and easy bruising; and persistent swelling of lower extremities despite elevation or weight loss.[12005] Updated guidelines propose a diagnosis of lipedema with the criteria as classically defined in addition to symptoms of the upper leg(s) and arm(s) such as a circularly thickened layer of fat affecting the skin.[6][2]

Treatment

Treatment for lipedema is focused on managing the symptoms. There is no one effective treatment for lipedema. Management to alleviate symptoms and prevent progression involves exercise, diet and nutrition, emotional support, and management of co-existing health problems that may cause leg-swelling.[7][4] The main conservative treatment is complete decongestive therapy (also called complex decongestive therapy, or CDT). CDT combines several approaches including manual lymph drainage (a message technique), compression therapy, and physical mobilization.[8] Surgery may be considered if conservative and supportive therapies are not effective. Surgical options may include liposuction using specialized techniques for lipedema (such as water jet-assisted liposuction) and excision (surgical removal of large deposits of affected tissue).[7][2]

Organizations

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

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

        In-Depth Information

        • 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 Lipedema. Click on the link to view a sample search on this topic.

          Selected Full-Text Journal Articles

            References

            1. Fonder MA, Loveless JW, Lazarus GS. Lipedema, a frequently unrecognized problem. J Am Acad Dermatol. 2007; 57 (2 Suppl):S1-3. https://www.ncbi.nlm.nih.gov/pubmed/17637360.
            2. Kruppa P, Georgiou I, Biermann N, Pranti L et al. Lipedemapathogenesis, diagnosis, and treatment options. Dtsch Arztebl Int. Jun 1, 2020; 117(22-23):396-403. https://pubmed.ncbi.nlm.nih.gov/32762835/.
            3. Bauer AT, von Lukowicz D, Lossagk K, Aitzetmueller M, Moog P et al. New insights on lipedema: The enigmatic disease of the peripheral fat. Plast Reconstr Surg. Dec 2019; 144(6):1475-1484. https://pubmed.ncbi.nlm.nih.gov/31764671.
            4. Wollina U. Lipedemaan update. Dermatol Ther. Mar 2019; 32(2):e12805. https://pubmed.ncbi.nlm.nih.gov/30565362.
            5. Lipedema. Fat Disorders Research Society. https://www.fatdisorders.org/lipedema/. Accessed 10/5/2016.
            6. Anne B Halk, Robert J Damstra. First Dutch guidelines on lipedema using the international classification of functioning, disability and health. Phlebology. April 12 2016; https://www.ncbi.nlm.nih.gov/pubmed/27075680.
            7. Canning C, Bartholomew JR. Lipedema. Vasc Med. February, 2018; 23(1):88-90. https://www.ncbi.nlm.nih.gov/pubmed/29143577.
            8. Wollina U. Lipedema—An update. Dermatol Ther. December 18, 2018; [Epub ahead of print]:https://onlinelibrary.wiley.com/doi/full/10.1111/dth.12805.
            9. Jean-Phillip Okhovat, Afsaneh Alavi. Lipedema A Review of the Literature. The International Journal of Lower Extremity Wounds. Sep 2015; 14(3):262-7. https://www.ncbi.nlm.nih.gov/pubmed/25326446.

            Rare Immunology News