Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. ("Lipo" is Greek for "fat", and "dystrophy" is Greek for "abnormal or degenerative condition".) A more specific term, lipoatrophy, is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis. The absence of fat tissue is associated with insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome.
Lipodystrophy can be divided into the following types::495–7
- Congenital lipodystrophy syndromes
- Acquired lipodystrophy syndromes
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A lipodystrophy can be a lump or small dent in the skin that forms when a person performs injections repeatedly in the same spot. These types of lipodystrophies are harmless and can be avoided by changing (rotating) the locations of injections. For those with diabetes, using purified insulins may also help.
One of the side-effects of lipodystrophy is the rejection of the injected medication, the slowing down of the absorption of the medication, or trauma that can cause bleeding that, in turn, will reject the medication. In any of these scenarios, the dosage of the medication, such as insulin for diabetics, becomes impossible to gauge correctly and the treatment of the disease for which the medication is administered is impaired, thereby allowing the medical condition to worsen.
In some cases, rotation of the injection sites may not be enough to prevent lipodystrophy.
Lipodystrophy can be a possible side effect of antiretroviral drugs. Other lipodystrophies manifest as lipid redistribution, with excess, or lack of, fat in various regions of the body. These include, but are not limited to, having sunken cheeks and/or "humps" on the back or back of the neck (also referred to as buffalo hump) which also exhibits due to excess cortisol. Lipoatrophy is most commonly seen in patients treated with thymidine analogue nucleoside reverse transcriptase inhibitors  like zidovudine (AZT) and stavudine (d4T).
The diagnosis is a clinical diagnosis, established by an experienced endocrinologist. A genetic confirmation may be possible depending on the subtype. In up to ~40% of partial lipodystrophy patients, a causative gene has not been identified. Using a skinfold caliper to measure skinfold thickness in various parts of the body may or a total body composition scan using Dual-energy X-ray Absorptiometry may help identify the subtype.
Leptin replacement therapy with human recombinant leptin metreleptin has been shown to be an effective therapy to alleviate the metabolic complications associated with lipodystrophy, and has been approved by the FDA for the treatment of generalized lipodystrophy syndromes. Volanesorsen is an Apo-CIII inhibitor that is currently being investigated as a potential therapeutic to reduce hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study.
Society and culture
Lipodytrophy United is an international organization founded and run by lipodystrophy patients to support each other and raise awareness about lipodystrophy syndromes. March 31st is observed as the World Lipodystrophy Day.
- Phan J, Reue K (2005). "Lipin, a lipodystrophy and obesity gene". Cell Metab. 1 (1): 73–83. doi:10.1016/j.cmet.2004.12.002. PMID 16054046.
- UCLA/VA Researchers discover fat gene
- Brown, Rebecca J.; Araujo-Vilar, David; Cheung, Pik To; Dunger, David; Garg, Abhimanyu; Jack, Michelle; Mungai, Lucy; Oral, Elif A.; Patni, Nivedita (2016-12-01). "The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline". The Journal of Clinical Endocrinology & Metabolism. 101 (12): 4500–4511. doi:10.1210/jc.2016-2466. ISSN 0021-972X. PMC .
- Ajluni, Nevin; Meral, Rasimcan; Neidert, Adam H.; Brady, Graham F.; Buras, Eric; McKenna, Barbara; DiPaola, Frank; Chenevert, Thomas L.; Horowitz, Jeffrey F. (2017-05-01). "Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort". Clinical Endocrinology. 86 (5): 698–707. doi:10.1111/cen.13311. ISSN 1365-2265.
- James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- Torrelo, A; Patel, S; Colmenero, I; Gurbindo, D; Lendínez, F; Hernández, A; López-Robledillo, JC; Dadban, A; Requena, L; Paller, AS (March 2010). "Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome". Journal of the American Academy of Dermatology. 62 (3): 489–95. doi:10.1016/j.jaad.2009.04.046. PMID 20159315.
- Physical and Biochemical Changes in HIV Disease Eric S. Daar, M.D. MedicineNet, Accessed 22 September 2007
- Carr A, Workman C, Smith DE, Hoy J, Hudson J, Doong N, Martin A, Amin J, Freund J, Law M, Cooper DA, Mitochondrial Toxicity (MITOX) Study, Group (Jul 10, 2002). "Abacavir substitution for nucleoside analogs in patients with HIV lipoatrophy: a randomized trial". JAMA: The Journal of the American Medical Association. 288 (2): 207–15. doi:10.1001/jama.288.2.207. PMID 12095385.
- John, M; McKinnon, EJ; James, IR; Nolan, DA; Herrmann, SE; Moore, CB; White, AJ; Mallal, SA (May 1, 2003). "Randomized, controlled, 48-week study of switching stavudine and/or protease inhibitors to combivir/abacavir to prevent or reverse lipoatrophy in HIV-infected patients". Journal of acquired immune deficiency syndromes (1999). 33 (1): 29–33. doi:10.1097/00126334-200305010-00005. PMID 12792352.
- Guillín-Amarelle, Cristina; Sánchez-Iglesias, Sofía; Castro-Pais, Ana; Rodriguez-Cañete, Leticia; Ordóñez-Mayán, Lucía; Pazos, Marcos; González-Méndez, Blanca; Rodríguez-García, Silvia; Casanueva, Felipe F. (2016-11-01). "Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome". Endocrine. 54 (2): 411–421. doi:10.1007/s12020-016-1002-x. ISSN 1355-008X.
- Oral, Elif Arioglu; Simha, Vinaya; Ruiz, Elaine; Andewelt, Alexa; Premkumar, Ahalya; Snell, Peter; Wagner, Anthony J.; DePaoli, Alex M.; Reitman, Marc L. (2002-02-21). "Leptin-Replacement Therapy for Lipodystrophy". New England Journal of Medicine. 346 (8): 570–578. doi:10.1056/NEJMoa012437. ISSN 0028-4793. PMID 11856796.
- Gaudet, Daniel; Brisson, Diane; Tremblay, Karine; Alexander, Veronica J.; Singleton, Walter; Hughes, Steven G.; Geary, Richard S.; Baker, Brenda F.; Graham, Mark J. (2014-12-04). "Targeting APOC3 in the Familial Chylomicronemia Syndrome". New England Journal of Medicine. 371 (23): 2200–2206. doi:10.1056/NEJMoa1400284. ISSN 0028-4793. PMID 25470695.
- Gaudet, Daniel; Alexander, Veronica J.; Baker, Brenda F.; Brisson, Diane; Tremblay, Karine; Singleton, Walter; Geary, Richard S.; Hughes, Steven G.; Viney, Nicholas J. (2015-07-30). "Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridemia". New England Journal of Medicine. 373 (5): 438–447. doi:10.1056/NEJMoa1400283. ISSN 0028-4793. PMID 26222559.
- "The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy - Full Text View - ClinicalTrials.gov". Retrieved 2018-03-31.
- "Welcome to Lipodystrophy United". www.lipodystrophyunited.org. Retrieved 2018-03-31.
- Inc., Ionis Pharmaceuticals,. "Akcea Therapeutics Supports World Lipodystrophy Day". www.prnewswire.com. Retrieved 2018-03-31.
- "Aegerion Pharmaceuticals Observes World Lipodystrophy Day – PM360". www.pm360online.com. Retrieved 2018-03-31.