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Disease Profile

Localized lipodystrophy

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

All ages

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ICD-10

E88.1

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

Localized lipodystrophy; Centrifugal lipodystrophy (subtype); Drug-induced localized lipodystrophy (subtype);

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 79088

Definition
A rare group of acquired lipodystrophies that are characterized by loss of subcutaneous tissue from generally small regions of the body, either single or multiple areas, and are not typically associated with metabolic complications. Some cases may involve lipohypertrophy (insulin). This group includes pressure-induced localized lipoatrophy, drug-induced localized lipodystrophy, panniculitisinduced localized lipodystrophy, centrifugal lipodystrophy, and idiopathic localized lipodystrophy.

Epidemiology
The term covers a heterogeneous group of conditions for which the prevalence varies according to the cause.

Clinical description
Localized lipohypertrophy involves small body areas, manifesting as either a soft bump or a depression in the soft tissue, and are not usually accompanied by a metabolic syndrome. They are most frequently observed in association with repeated mechanical microtraumatism (pressure induced localized lipoatrophy) such as drug injection, but may also be seen as the sequelae of an inflammation (panniculitis-induced localized lipodystrophy). Drug-induced localized lipodystrophy is often observed in diabetes associated with steroid or antiretroviral treatment leading to possible android obesity, and sometimes a lipoatrophy of Bichat balls under antiretroviral drugs. Centrifugal lipodystrophy is characterized by fat loss spread in a centrifugal pattern from abdomen and groin area and is associated with peripheral panniculitis. It begins in infancy, stops spreading between the ages of 3 and 8 and then in most cases, resolves by itself. Panniculitis-induced localized lipodystrophy is characterized by an initial development of panniculitis followed by localized fat loss when these lesions heal. The disease is associated with serum ANA and anti dsDNA antibodies, patients may also have concurrent autoimmune diseases. Localized lipoatrophy is not painful but can induce discomfort, especially when they are localized in a support zone such as the bottom, or dressing difficulties or aesthetic prejudice.

Etiology
Localized lipodystrophy is generally iatrogenic and secondary to medication injections (somatostatin analogs, pegvisomant, insulin), vaccines or repetitive pressure trauma. In addition certain medications can induce localized lipodystrophy such as steroids or antiretroviral treatment, or it can be triggered by panniculitis (such as nodular non-suppurative panniculitis, Weber-Christian syndrome). The etiology for idiopathic localized lipodystrophy and centrifugal localized lipodystrophy remains unknown.

Differential diagnosis
Differential diagnoses may include scleroderma, idiopathic dermal atrophy, idiopathic atrophoderma of Pasini and Pierini, and Gowers panatrophy.

Antenatal diagnosis
Not applicable.

Genetic counseling
Not applicable.

Management and treatment
Treatment should revolve around elimination of the cause whenever possible: modification of the injection technique or plastic surgery if necessary. Localized lipodystrophy associated with insulin therapy usually resolves in a few weeks after changing the site of injection and modification of the length of the needle.

Prognosis
The prognosis depends on the cause but is more severe in case of panniculitis.

Visit the Orphanet disease page for more resources.

Symptoms

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:
HPO ID
80%-99% of people have these symptoms
Abnormal subcutaneous fat tissue distribution
Abnormal fat tissue distribution below the skin
0007552
Lipoatrophy
Loss of fat tissue in localized area
0100578

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The NORD Physician Guide for Localized lipodystrophy was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.

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.

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.