| 词条 | Lipodystrophy |
| 释义 |
| name = Lipodystrophie | image = | caption = | | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue.[1][2] 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.[3][4] TypesLipodystrophy can be divided into the following types:[5]{{rp|495–7}}
Insulin injections{{unreferenced section|date=July 2013}}{{Main|Lipohypertrophy}}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. Antiretroviral drugs{{Main|HIV-associated 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)[7] which also exhibits due to excess cortisol. Lipoatrophy is most commonly seen in patients treated with thymidine analogue nucleoside reverse transcriptase inhibitors [8] like zidovudine (AZT) and stavudine (d4T).[9] Hereditary formsLipodystrophy can be caused by metabolic abnormalities due to genetic issues. These are often characterized by insulin resistance and are associated with metabolic syndrome. DiagnosisThe 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.[3] 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.[4][10] Dual-energy X-ray Absorptiometry may be useful by providing both regional %fat measurements, and direct visualization of fat distribution by means of a "fat shadow"[11]. TreatmentLeptin 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.[12] In Europe based on EMA, metreleptin should be used in addition to diet to treat lipodystrophy, where patients have loss of fatty tissue under the skin and build-up of fat elsewhere in the body such as in the liver and muscles. The medicine is used in: adults and children above the age of 2 years with generalised lipodystrophy (Berardinelli-Seip syndrome and Lawrence syndrome) and in adults and children above the age of 12 years with partial lipodystrophy (including Barraquer-Simons syndrome), when standard treatments have failed.[13] Volanesorsen is an Apo-CIII inhibitor[14][15] that is currently being investigated as a potential therapeutic to reduce hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study.[16]Society and culture[https://www.lipodystrophyunited.org/ Lipodytrophy United] is an international organization founded and run by lipodystrophy patients to support each other and raise awareness about lipodystrophy syndromes.[17] March 31st is observed as the World Lipodystrophy Day.[18][19] See also
References1. ^{{cite journal | vauthors = Phan J, Reue K | title = Lipin, a lipodystrophy and obesity gene | journal = Cell Metabolism | volume = 1 | issue = 1 | pages = 73–83 | date = January 2005 | pmid = 16054046 | doi = 10.1016/j.cmet.2004.12.002 }} 2. ^UCLA/VA Researchers discover fat gene 3. ^1 {{cite journal | vauthors = Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, Jack M, Mungai L, Oral EA, Patni N, Rother KI, von Schnurbein J, Sorkina E, Stanley T, Vigouroux C, Wabitsch M, Williams R, Yorifuji T | title = The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 101 | issue = 12 | pages = 4500–4511 | date = December 2016 | pmid = 27710244 | pmc = 5155679 | doi = 10.1210/jc.2016-2466 | url = https://academic.oup.com/jcem/article/101/12/4500/2764979 }} 4. ^1 {{cite journal | vauthors = Ajluni N, Meral R, Neidert AH, Brady GF, Buras E, McKenna B, DiPaola F, Chenevert TL, Horowitz JF, Buggs-Saxton C, Rupani AR, Thomas PE, Tayeh MK, Innis JW, Omary MB, Conjeevaram H, Oral EA | title = Spectrum of disease associated with partial lipodystrophy: lessons from a trial cohort | journal = Clinical Endocrinology | volume = 86 | issue = 5 | pages = 698–707 | date = May 2017 | pmid = 28199729 | pmc = 5395301 | doi = 10.1111/cen.13311 }} 5. ^{{cite book |author1=James, William D. |author2=Berger, Timothy G. |title=Andrews' Diseases of the Skin: clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=978-0-7216-2921-6 |oclc= |doi= |access-date=|display-authors=etal}} 6. ^{{cite journal | vauthors = Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendínez F, Hernández A, López-Robledillo JC, Dadban A, Requena L, Paller AS | title = Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome | journal = Journal of the American Academy of Dermatology | volume = 62 | issue = 3 | pages = 489–95 | date = March 2010 | pmid = 20159315 | doi = 10.1016/j.jaad.2009.04.046 }} 7. ^Physical and Biochemical Changes in HIV Disease Eric S. Daar, M.D. MedicineNet, Accessed 22 September 2007 8. ^{{cite journal | vauthors = Carr A, Workman C, Smith DE, Hoy J, Hudson J, Doong N, Martin A, Amin J, Freund J, Law M, Cooper DA | title = Abacavir substitution for nucleoside analogs in patients with HIV lipoatrophy: a randomized trial | journal = JAMA | volume = 288 | issue = 2 | pages = 207–15 | date = July 2002 | pmid = 12095385 | doi = 10.1001/jama.288.2.207 }} 9. ^{{cite journal | vauthors = John M, McKinnon EJ, James IR, Nolan DA, Herrmann SE, Moore CB, White AJ, Mallal SA | title = 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 = Journal of Acquired Immune Deficiency Syndromes | volume = 33 | issue = 1 | pages = 29–33 | date = May 2003 | pmid = 12792352 | doi = 10.1097/00126334-200305010-00005 }} 10. ^{{cite journal | vauthors = Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D | title = Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome | journal = Endocrine | volume = 54 | issue = 2 | pages = 411–421 | date = November 2016 | pmid = 27473102 | doi = 10.1007/s12020-016-1002-x }} 11. ^{{cite journal | vauthors = Meral R, Ryan BJ, Malandrino N, Jalal A, Neidert AH, Muniyappa R, Akıncı B, Horowitz JF, Brown RJ, Oral EA | title = "Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers | journal = Diabetes Care | volume = 41 | issue = 10 | pages = 2255–2258 | date = October 2018 | pmid = 30237235 | pmc = 6150431 | doi = 10.2337/dc18-0978 }} 12. ^{{cite journal | vauthors = Oral EA, Simha V, Ruiz E, Andewelt A, Premkumar A, Snell P, Wagner AJ, DePaoli AM, Reitman ML, Taylor SI, Gorden P, Garg A | title = Leptin-replacement therapy for lipodystrophy | journal = The New England Journal of Medicine | volume = 346 | issue = 8 | pages = 570–8 | date = February 2002 | pmid = 11856796 | doi = 10.1056/NEJMoa012437 }} 13. ^{{Cite web|url=https://www.ema.europa.eu/en/medicines/human/EPAR/myalepta|title=Myalepta {{!}} European Medicines Agency|website=www.ema.europa.eu|access-date=2019-01-08}} 14. ^{{cite journal | vauthors = Gaudet D, Brisson D, Tremblay K, Alexander VJ, Singleton W, Hughes SG, Geary RS, Baker BF, Graham MJ, Crooke RM, Witztum JL | title = Targeting APOC3 in the familial chylomicronemia syndrome | journal = The New England Journal of Medicine | volume = 371 | issue = 23 | pages = 2200–6 | date = December 2014 | pmid = 25470695 | doi = 10.1056/NEJMoa1400284 }} 15. ^{{cite journal | vauthors = Gaudet D, Alexander VJ, Baker BF, Brisson D, Tremblay K, Singleton W, Geary RS, Hughes SG, Viney NJ, Graham MJ, Crooke RM, Witztum JL, Brunzell JD, Kastelein JJ | title = Antisense Inhibition of Apolipoprotein C-III in Patients with Hypertriglyceridemia | journal = The New England Journal of Medicine | volume = 373 | issue = 5 | pages = 438–47 | date = July 2015 | pmid = 26222559 | doi = 10.1056/NEJMoa1400283 }} 16. ^{{Cite news|url=https://clinicaltrials.gov/ct2/show/NCT02527343|title=The BROADEN Study: A Study of Volanesorsen (Formerly ISIS-APOCIIIRx) in Patients With Familial Partial Lipodystrophy - Full Text View - ClinicalTrials.gov|access-date=2018-03-31|language=en}} 17. ^{{Cite web|url=https://www.lipodystrophyunited.org/|title=Welcome to Lipodystrophy United|website=www.lipodystrophyunited.org|language=en-US|access-date=2018-03-31}} 18. ^{{Cite web|url=https://www.prnewswire.com/news-releases/akcea-therapeutics-supports-world-lipodystrophy-day-300243886.html|title=Akcea Therapeutics Supports World Lipodystrophy Day|last=Inc.|first=Ionis Pharmaceuticals|website=www.prnewswire.com|language=en|access-date=2018-03-31}} 19. ^{{Cite web|url=https://www.pm360online.com/aegerion-pharmaceuticals-observes-world-lipodystrophy-day/|title=Aegerion Pharmaceuticals Observes World Lipodystrophy Day – PM360|website=www.pm360online.com|language=en-US|access-date=2018-03-31}} External links{{Medical resources| DiseasesDB = 30066 | ICD10 = {{ICD10|E|88|1|e|70}} | ICD9 = {{ICD9|272.6}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = med | eMedicineTopic = 1307 | eMedicine_mult = {{eMedicine2|med|3523}} | MeshID = D008060 }}{{Lipid metabolism disorders}}{{Disorders of subcutaneous fat}} 1 : Conditions of the subcutaneous fat |
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