Lipodystrophy

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Lipodystrophie
SpecialtyEndocrinology Edit this on Wikidata

Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue.

non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome.[3][4]

Types

Lipodystrophy can be divided into the following types:[5]: 495–7 

Epidemiology

Congenital lipodystrophy (due to inherited genetic defect) is estimated to be extremely rare, possibly affecting only one per million persons.[7] Acquired lipodystrophy is much more common, especially affecting persons with HIV infection.[7]

Pathogenesis

Due to an insufficient capacity of subcutaneous

non-alcoholic fatty liver disease (NAFLD) associated with obesity, leptin levels are very low in lipodystrophy.[7]

Insulin injections

Main article: Lipohypertrophy

Lipodystrophy can appear as a lump or small dent in the

diabetes, using purified insulins
and new needles with each injection may also help. (Although, in some cases, rotation of the injection sites may not be enough to prevent lipodystrophy.)

Some of the side-effects of lipodystrophy are the rejection of the injected medication, the slowing down of the absorption of the medication, or trauma which can cause bleeding that, in turn, causes rejection of 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 condition to worsen.

Antiretroviral drugs

Main article: HIV-associated lipodystrophy

Lipodystrophy can be a possible side effect of certain

antiretroviral drugs. Lipoatrophy is most commonly seen in patients treated with thymidine analogues and other older HIV drug treatments such as the nucleoside reverse transcriptase inhibitors [NRTIs] [9] like zidovudine (AZT) and stavudine (d4T).[10] Other lipodystrophies manifest as lipid redistribution, with excess, or lack of, fat in various regions of the body. This is often most noticeable in the face. 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)[11] which also exhibits due to excess cortisol
(a so-called "stress" hormone).

Diagnosis

The diagnosis is a clinical one, usually established by an experienced endocrinologist.Using a

skinfold caliper to measure skinfold thickness in various parts of the body or a total body composition scan using Dual-energy X-ray Absorptiometry may also help identify the subtype.[4][12] 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".[13] A genetic confirmation is sometimes possible, depending on the subtype. However, in up to 40% of partial lipodystrophy patients, a causative gene has not been identified.[3]

Treatment

Leptin replacement therapy with human recombinant leptin

partial lipodystrophy (including Barraquer-Simons syndrome), when standard treatments have failed.[15]

Apo-CIII inhibitor[16][17] that is currently being investigated as a potential therapeutic to reduce levels of hypertriglycerides in Familial Partial Lipodystrophy patients in the BROADEN study.[18]

Society and culture

Lipodystrophy United is an American organization founded and run by lipodystrophy patients to support each other and raise awareness about lipodystrophy syndromes.[19]

Lipodystrophy UK is a dedicated UK charity set up to support people affected by Lipodystrophy.[20]

March 31 is observed as the World Lipodystrophy Day.[21][22]

See also

References

  1. PMID 16054046
    .
  2. ^ "UCLA/VA Researchers discover fat gene". Archived from the original on 2018-10-06. Retrieved 2017-06-15.
  3. ^
    PMID 27710244
    .
  4. ^
    PMID 28199729
    .
  5. ISBN 978-0-7216-2921-6
    .
  6. PMID 20159315
    .
  7. ^
    S2CID 195661123
    .
  8. ^
    PMID 31656583
    .
  9. PMID 12095385
    .
  10. S2CID 22845453
    .
  11. ^ Physical and Biochemical Changes in HIV Disease Eric S. Daar, M.D. MedicineNet, Accessed 22 September 2007
  12. S2CID 19689303
    .
  13. PMID 30237235
    .
  14. PMID 11856796
    .
  15. ^ "Myalepta | European Medicines Agency". www.ema.europa.eu. 17 September 2018. Retrieved 2019-01-08.
  16. PMID 25470695
    .
  17. S2CID 205096489
    .
  18. ^ "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.
  19. ^ "Welcome to Lipodystrophy United". www.lipodystrophyunited.org. Retrieved 2018-03-31.
  20. ^ "Lipodystrophy UK". www.lipodystrophyuk.org. Retrieved 2020-02-29.
  21. ^ Inc., Ionis Pharmaceuticals. "Akcea Therapeutics Supports World Lipodystrophy Day". www.prnewswire.com (Press release). Retrieved 2018-03-31. {{cite press release}}: |last= has generic name (help)
  22. ^ "Aegerion Pharmaceuticals Observes World Lipodystrophy Day – PM360". www.pm360online.com. Retrieved 2018-03-31.

External links

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