Congenital generalized lipodystrophy: Difference between revisions
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==Management== |
==Management== |
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===Diet=== |
===Diet=== |
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BSCL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. |
BSCL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. To avoid [[chylomicronemia]], BSCL patients with [[hypertriglyceridemia]] need to have a diet very low in fat. BSCL patients also need to avoid total proteins, trans fats, and eat high amounts of soluble fiber to avoid getting high levels of [[cholesterol]] in the blood. <ref name="CCA">{{cite journal | url=http://www.sciencedirect.com/science/article/pii/S0009898109000096 | title=Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL) | author=Gomes K, Pardini VC, Fernandes AP | journal=Clinica Chimica Acta | year=2009 | month=April | volume=402 | pages=1-6 | doi=10.1016/j.cca.2008.12.032}}</ref> |
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==Genetics== |
==Genetics== |
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Revision as of 18:02, 17 October 2012
| Congenital generalized lipodystrophy | |
|---|---|
| Specialty | Endocrinology  |
Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a very rare autosomal recessive skin condition, characterized by an extreme scarcity of fat in the subcutaneous tissues.[1] Only 250 cases of the condition have been reported, and 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]
There are differences in how Type 1 vs Type 2 patients are affected by the disease. In type 1 patients, they still have mechanical adipose tissue, but type 2 patients do not have any adipose tissue, including mechanical.[6]
Diagnosis
Medical diagnosis of BSCL can be made after observing the physical symptoms of the disease: lipoatrophy affecting the trunk, limbs, and face; hepatomegaly; acromegaly; 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.[7] Physical diagnosis is easier, as BSCL patients are recognizable from birth, due to their extreme muscular appearance, which is caused by the absence of subcutaneous fat. [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. [8]
Management
Diet
BSCL patients have to maintain a strict diet for life, as their excess appetite will cause them to overeat. Carbohydrate intake should be restricted in these patients. To avoid chylomicronemia, BSCL patients with hypertriglyceridemia need to have a diet very low in fat. BSCL patients also need to avoid total proteins, trans fats, and eat high amounts of soluble fiber to avoid getting high levels of cholesterol in the blood. [9]
Genetics
| OMIM | Type | Gene Locus |
|---|---|---|
| Template:OMIM2 | CGL1 | AGPAT2 at 9q34.3 |
| Template:OMIM2 | CGL2 | BSCL2 at 11q13 |
| Template:OMIM2 | CGL3 | CAV1 at 7q31.1 |
| Template:OMIM2 | CGL4 | PTRF at 17q21 |
See also
External links
References
- ^ 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.
{{cite book}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ a b c Garg, A (2004). "Acquired and inherited lipodystrophies". The New England Journal Of Medicine. 350 (12): 1220–1234.
{{cite journal}}: Unknown parameter|month=ignored (help) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}:|access-date=requires|url=(help)CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ a b Khandpur, Sujay. "Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case". Indian Journal Of Dermatology, Venereology And Leprology. p. 402. Retrieved October 16, 2012.
- ^ Van Maldergem, Lionel (1993). "Berardinelli-Seip Congenital Lipodystrophy". University of Washington, Seattle. Retrieved September 05, 2012.
{{cite web}}: Check date values in:|accessdate=(help) - ^ 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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Gomes K, Pardini VC, Fernandes AP (2009). "Clinical and molecular aspects of Berardinelli–Seip Congenital Lipodystrophy (BSCL)". Clinica Chimica Acta. 402: 1–6. doi:10.1016/j.cca.2008.12.032.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
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