Lipodystrophy

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Classification according to ICD-10
E88.1 Lipodystrophy, not elsewhere classified
ICD-10 online (WHO version 2019)

Under lipodystrophy is understood to mean a change in the subcutaneous fatty tissue which may occur locally and generalized or. The changes can be reversible depending on the cause . Lipodystrophy is one of the very rare diseases (orphan diseases) .

No longer used name: Simons syndrome .

Forms of lipodystrophy

Lipohypertrophy under insulin therapy

With frequent and repeated injections of insulin into a very limited area of ​​skin, the lipogenic effect leads to an increase in fatty tissue. The consequence is poorer absorption of the insulin and, furthermore , a deterioration in the metabolism. Leaving out the injection site leads to complete regression.

Lipodystrophy syndrome under antiretroviral therapy

The lipodystrophy is a metabolic syndrome , which in HIV - infected individuals can occur under anti-retroviral therapy. Older studies indicated an occurrence in 30–50% of patients under HAART . Investigations with the current treatment regimen, however, show a significantly rarer occurrence; in first-line therapy, an annual incidence of only 5–10% is reported, which seems to progress less in the following years. Lipodystrophy is associated with an increase in blood lipids and serum cholesterol, as well as a redistribution of adipose tissue, with both atrophic and hypertrophic changes occurring. Those affected typically develop excess fat on the face ( lipoatrophy ) and on the extremities ; on the other hand, there is often a “ bull's neck ” and a larger fat pad in the stomach area (“lifebuoy”). There is also an insulin resistance . Lipodystrophy affects the infected person cosmetically and increases the risk of those infected with HIV to a still unknown extent of developing diabetes or cardiovascular diseases.

Familial lipodystrophy syndromes

These are genetically caused diseases that occur very rarely. In type I or Köbberling syndrome , lipodystrophy affects the lower half of the body; in type II or Dunningan syndrome , lipodystrophy also affects the trunk of the body. In addition, there is an increase in fatty tissue on the face and neck, which leads to a pseudo-Cushingoid appearance in those affected . Those affected, typically young women after puberty, develop hirsutism ; women appear muscular due to the lack of subcutaneous fat and the muscles and blood vessels that protrude from it. In fact, however, the body suffers from a pathological but visceral accumulation of fat and massive hypertriglyceridemia , which can lead to acute pancreatitis on the one hand and to diabetes mellitus via increased insulin resistance on the other .

There are also other forms, s. under familial lipodystrophy , as well as the lipodystrophy type Berardinelli with other abnormalities.

Not familial syndromes

The syndromes with acquired lipodystrophy can be divided into:

treatment

In the USA, the American regulatory authority (FDA) has approved a single drug for the treatment of familial lipodystrophy since 2014 : metreleptin ( Myalept ). Metreleptin is a recombinant analogue of human ( i.e. human) leptin . For Europe, the manufacturer ( Novellion or Aegerion ) submitted the application for approval in December 2016. The intended trade name is Myalepta .

See also

swell

  1. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ [1] The HIV Book 2012, Chapter 8: The Lipodystrophy Syndrome, accessed on January 5, 2012
  3. ^ Rare Diseases
  4. ↑ Drugs @ FDA: FDA Approved Drug Products , FDA: Approval Date (s) and History, Letters, Labels, Reviews for BLA 125390, accessed July 20, 2017
  5. ↑ [2] Orphanet, portal for rare diseases and orphan drugs, accessed on July 20, 2017
  6. ^ [3] Lipodystrophie, Der Internist, Abstract, April 2011
  7. ↑ People with GL do not have enough leptin , website of the manufacturer, accessed on July 20, 2017
  8. ↑ Novelion Therapeutics' Subsidiary Files for European Approval for Metreleptin as a treatment for Generalized Lipodystrophy and a Subset of Patients with Partial Lipodystrophy , PM Novelion, December 21, 2016, accessed July 20, 2017

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