Congenital generalized lipodystrophy

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Congenital generalized lipodystrophy
Classification and external resources
Congenital Generalized Lipodystrophy MRI.png
An MRI image illustrating the lack of subcutaneous fat of a patient with the disease (G) compared to a control patient (A).
ICD-10 E88.1
ICD-9 272.6
OMIM 608594 269700 612526 613327
DiseasesDB 34828 30065
eMedicine article/1113171 
MeSH D052497

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and Keywords: Berardinelli–Seip syndrome

Overview

Congenital generalized lipodystrophy is a very rare autosomal recessive skin condition, characterized by an extreme paucity of fat in the subcutaneous tissues.[1] Only 250 cases of the condition have been reported, so it is estimated that it occurs in 1 in 10 million people worldwide. [2]

Presentation

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disorder associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy.[3] The condition presents itself in early childhood with accelerated linear growth , quick aging of bones, and a large appetite. As the child grows up, acanthosis nigricans will begin to present itself throughout the body - mainly in the neck, trunk, and groin. [2] The disorder also has characteristic features like hepatomegaly which arises from fatty liver and made lead to cirrhosis, muscle hypertrophy, lack of adipose tissue, splenomegaly, hirsutism and hypertriglyceridemia.[4] Common cardiovascular problems related to this syndrome are cardiac hypertrophy and arterial hypertension.[5] This disorder is also associated with metabolic syndrome. Most with the disorder also have a prominent umbilicus or umbilical hernia. Commonly, patients will also have acromegaly with enlargement of the hands, feet, and jaw. After puberty, additional symptoms can develop. In women, clitoromegaly and the polycystic ovary syndrome can develop. This impairs fertility for the women, and only a few documented cases of successful pregnancies in women with BSCL exist. However, the fertility of men with the disorder is unaffected. [2]

Diagnosis

Medical diagnosis of BSCL can be made after observing the physical symptoms of the disease: lipoatrophy affecting the trunk, limbs, and face; hepatomegaly; acromegaloid; insulin resistance; and high serum levels of triglycerides. Genetic testing can also confirm the disease, as mutations in the AGPAT2 and BSCL2 genes are indicative of the disease. [6]

Mechanism

Congenital Generalized Lipodystrophy Type 1

In individuals with Type 1 CGL, the disorder is caused by a mutation at the AGPAT2 gene encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 and located at 9q34.3. This enzyme catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, which is important in the biosynthesis of fats. This enzyme is highly expressed in adipose tissue, so it can be concluded that when the enzyme is defective in CGL, lipids cannot be stored in the adipose tissue. [7]

Genetics

OMIM Type Gene Locus
608594 CGL1 AGPAT2 at 9q34.3
269700 CGL2 BSCL2 at 11q13
612526 CGL3 CAV1 at 7q31.1
613327 CGL4 PTRF at 17q21

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References

  1. James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 495. ISBN 0-7216-2921-0.
  2. 2.0 2.1 2.2 Garg, A (2004). "Acquired and inherited lipodystrophies". The New England Journal Of Medicine. 350 (12): 1220–1234. Unknown parameter |month= ignored (help)
  3. Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G (2009). "Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation". Eur J Med Genet. 52 (1): 14–6. doi:10.1016/j.ejmg.2008.10.006. PMID 19041432. Retrieved 2009-03-04.
  4. Gürakan F, Koçak N, Yüce A (1995). "Congenital generalized lipodystrophy: Berardinelli syndrome. Report of two siblings". Turk. J. Pediatr. 37 (3): 241–6. PMID 7502362. |access-date= requires |url= (help)
  5. Viégas RF, Diniz RV, Viégas TM, Lira EB, Almeida DR (2000). "Cardiac involvement in total generalized lipodystrophy (Berardinelli- Seip syndrome)". Arq. Bras. Cardiol. 75 (3): 243–8. PMID 11018810. Unknown parameter |month= ignored (help)
  6. Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. Retrieved September 05, 2012. Check date values in: |accessdate= (help)
  7. Agarwal AK, Arioglu E, de Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A (2002). "AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34" (PDF). Nature. 31: 21–23. doi:10.1038/ng880. Unknown parameter |month= ignored (help)

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