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There are different types, and each varies in its onset and presentation. This article outlines the symptoms of lipodystrophy, as well as the types and their causes. It also looks at how doctors diagnose and treat lipodystrophy, and the outlook for people who have it. Pictures What is lipodystrophy Lipodystrophy is a disorder that affects how the body accumulates and stores fat. In a person with this condition, fat collects in certain areas, such as the torso, face, and neck, while the legs and arms have little to no fat. In the most severe cases, the body has almost no fat tissue, and the person appears extremely thin and muscular. Symptoms of lipodystrophy The main symptom is total or nearly total loss of fat beneath the skin — either throughout the body or in certain areas. At the same time, there may be an accumulation of fatty tissue in areas such as the face, neck, and torso. The type and extent of fat distribution depends on the type of lipodystrophy a person has. The condition may also cause other symptoms and some complications. Metabolic complications are common. For example, a person may have increased hunger due to low levels of the hormone leptin, which makes a person feel full and ready to stop eating. Other complications include reproductive issues, such as reduced fertility, and irregular menstrual cycles. Types of lipodystrophy There are several types of lipodystrophy: Congenital generalized lipodystrophy Congenital generalized lipodystrophy (CGL) is an inherited condition. It is present from birth, and infants begin losing weight a few weeks after birth. Infants with CGL have almost no subcutaneous fat, which is the layer of fat beneath the skin. This causes their arms and legs to appear thin and muscular. Familial partial lipodystrophy Familial partial lipodystrophy (FPL) is also an inherited condition. People with this type often begin to lose fat tissue during puberty. A person may progressively lose fat from their arms and legs. The body may store this around the face, neck, and abdomen. Acquired generalized lipodystrophy Other names for acquired generalized lipodystrophy are AGL and Lawrence syndrome. It develops during adolescence and has a similar presentation to CGL. The condition is “acquired” because experts have not confirmed a genetic cause of it. Acquired partial lipodystrophy Acquired partial lipodystrophy (APL), or Barraquer-Simons syndrome, develops after birth. The loss of fat usually occurs on the face, neck, and upper extremities. It does not usually affect the lower limbs. High active antiretroviral therapy-induced lipodystrophy High active antiretroviral therapy-induced lipodystrophy is a rare form that occurs in some people who take antiretroviral medication to treat HIV. A person with this condition gradually loses fat from their arms, legs, and face. This does not reverse if the person stops taking antiretroviral medication. Localized lipodystrophy This usually affects people who have repeated daily injections, such as regular insulin injections to manage diabetes. The loss of fat only occurs at the injection site, creating a small dimple or “crater.” Rotating the injection sites can help prevent localized lipodystrophy. Causes of lipodystrophy The following four genetic variants can cause congenital lipodystrophy, and each has slightly different presentations:GeneUnique featuresAGPAT2loss of metabolically active fatBSCL2generalized absence of all fat tissueCAV1short stature, vitamin D resistance, low blood calcium and low blood magnesium levelsPTRFmuscle weakness and skeletal irregularities, gastrointestinal problems and irregularities, and cardiac arrhythmias The acquired forms of lipodystrophy have no direct genetic cause. Many cases are idiopathic, meaning that they occur without any clear cause. Researchers have hypothesized that autoimmune diseases may cause acquired lipodystrophy. Examples of autoimmune diseases that may lead to the condition include: lupusceliac diseasepernicious anemiavasculitis Risk factors Experts do not know the exact cause of many cases of acquired lipodystrophy. Certain medications and autoimmune conditions may increase a person’s risk. Related autoimmune conditions, beyond those listed just above, may include:autoimmune thyroiditisautoimmune hepatitisautoimmune hemolytic anemiarheumatoid arthritisSjogren’s syndromeSicca syndrome The following infections may also increase the risk of developing acquired lipodystrophy:chickenpoxmeaslesinfectious mononucleosisdiphtheriaosteomyelitispneumoniaHIV Learn more about HIV-related lipodystrophy here. Diagnosis of lipodystrophy Doctors typically diagnose lipodystrophy by performing a physical exam and asking about symptoms. They may try to eliminate the possibility of other conditions, such as Cushing’s syndrome or anorexia. The following diagnostic tests can help support the diagnosis and rule out other conditions:genetic teststests to check blood chemical profileswhole-body MRI to check for patterns of fat loss characteristic of acquired lipodystrophyrenal biopsy to check for kidney involvement in cases of suspected APL Treatment of lipodystrophy Treating lipodystrophy may require different specialists and other healthcare professionals working together. The specialists may be: endocrinologistsplastic surgeonscardiologistsnutritionistspediatricians There is no cure for lipodystrophy, but some treatments can prolong a person’s life and improve their quality of life. Many of these treatments focus on mitigating the conditions associated with lipodystrophy, such as:diabetesfatty liver diseasepolycystic ovary syndrome (PCOS) Doctors recommend a balanced diet and regular exercise to help a person maintain a moderate weight. They may also prescribe medications called statins to help manage high cholesterol. Metreleptin for lipodystrophy In 2014, the Food and Drug Administration (FDA) approved a leptin replacement therapy called metreleptin to help treat generalized lipodystrophy. The treatment helps:control appetitereduce fatty liver depositsnormalize puberty in females Metreleptin can have serious adverse effects, however. Some people have developed anti-metreleptin neutralizing antibodies after taking the medication. These may lead to infection and a loss of metabolic control. There is also a link between metreleptin and lymphoma. Other side effects of metreleptin include:headacheslow blood sugarweight lossabdominal pain Metreleptin is only available under a restricted program. Doctors must carefully consider and discuss with each person the possible benefits and risks of this treatment Outlook Lipodystrophy is a progressive condition that can cause serious complications, including:multi-organ damagefatty deposits in the liverkidney damageinsulin resistancePCOS Although they have yet to establish a direct link, researchers have observed that people with lipodystrophy have an increased risk of early death. Frequently asked questions Below are answers to some frequently asked questions about lipodystrophy. What are some tips for managing lipodystrophy The National Organization for Rare Disorders (NORD) recommends a high carbohydrate, low fat diet to help prevent the accumulation of fatty droplets in the blood. This should help prevent episodes of acute pancreatitis in people with lipodystrophy. Regular exercise also helps a person reach and maintain a healthy weight while reducing the risk of diabetes. If there are large deposits of fat tissue, a person might speak with a doctor about having cosmetic surgery, such as liposuction. This could also help manage metabolic complications. The NORD also says that people may benefit from counseling after a diagnosis of acquired lipodystrophy. A mental health professional or support group may be able to help deal with any anxiety or stress related to the diagnosis. Where can I find a lipodystrophy support group Support groups are accessible online and sometimes in person. A healthcare professional may be able to connect a person with this type of group and other resources. Also the following websites offer support, resources, and information: RareConnect is a social media platform that connects people living with rare diseases, including lipodystrophy.The Genetic and Rare Diseases Information Center helps people find resources, specialists, and information about clinical studies.WeHealth connects people with certain conditions, including FPL, to resources, treatment, and support. Summary Lipodystrophy is a rare condition that causes a disproportionate distribution of fat in the body. A person may have very little or no fat on their arms or legs, and excess fat on their face, neck, or torso. Overall, the distribution depends on the type of lipodystrophy a person has. Lipodystrophy may be genetic or acquired. Genetic types are present from birth, while acquired types develop later in life. There are several types of acquired lipodystrophy, and each may have a different cause. Possible causes include viral infections, autoimmune diseases, and the use of certain medications. Anyone who may have lipodystrophy should see a doctor. Appropriate treatment can help manage the condition and reduce the risk of possible complications, such as insulin resistance, kidney damage, and fatty deposits in the liver. Last medically reviewed on May 15, 2022GeneticsImmune System / VaccinesObesity / Weight Loss / Fitness 8 sourcescollapsedMedical News Today has strict sourcing guidelines and draws only from peer-reviewed studies, academic research institutions, and medical journals and associations. We avoid using tertiary references. We link primary sources — including studies, scientific references, and statistics — within each article and also list them in the resources section at the bottom of our articles. You can learn more about how we ensure our content is accurate and current by reading our editorial policy.Acquired lipodystrophy. (2015). https://rarediseases.org/rare-diseases/acquired-lipodystrophy/Akinci, B., et al. (2018). Lipodystrophy syndromes: Presentation and treatment. https://www.ncbi.nlm.nih.gov/books/NBK513130/Araujo-Vilar, D., et al. (2018). Diagnosis and treatment of lipodystrophy: A step-by-step approach.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304182/BMI: Preventing ill health and premature death in black, Asian and other minority ethnic groups. (2013).https://www.nice.org.uk/guidance/ph46/chapter/6-glossaryBLA 125390 Myalept (metreleptin). (2014). https://www.fda.gov/media/88015/downloadFamilial partial lipodystrophy. (n.d.).https://medlineplus.gov/genetics/condition/familial-partial-lipodystrophy/Familial partial lipodystrophy. (n.d.).https://rarediseases.org/rare-diseases/familial-partial-lipodystrophy/Myalept (metreleptin for injection) for subcutaneous use. (2014).https://www.accessdata.fda.gov/drugsatfda_docs/label/2014/125390s000lbl.pdfFEEDBACK:Medically reviewed by Angelica Balingit, MD — By Jesse Klein and Charlotte Lillis on May 15, 2022 Latest newsWhat sets 'SuperAgers' apart? Their unusually large neuronsOmega-3 may provide a brain boost for people in midlifeSeasonal affective disorder (SAD): How to beat it this fall and winterCDC: Monkeypox in the US 'unlikely to be eliminated in the near future'Why are more women prone to Alzheimer's? New clues arise Related CoverageWhat are the benefits and risks of liposuction?Medically reviewed by University of Illinois Liposuction is a type of cosmetic surgery that breaks up and sucks fat from the body. It is not a weight-loss procedure; the results are purely…READ MOREWhat is mesenteric panniculitis?Medically reviewed by Suzanne Falck, MD Mesenteric panniculitis is a rare disorder that affects the abdomen, causing pain and other symptoms. 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