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Abnormality of lipid metabolism

MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
Synonyms: Dyslipidemia
SNOMED CT: Dyslipidemia (370992007); High blood cholesterol/triglycerides (370992007)
 

Definition

A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of lipid metabolism

Conditions with this feature

Acquired partial lipodystrophy
MedGen UID:
66352
Concept ID:
C0220989
Disease or Syndrome
Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1). There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600).
Familial partial lipodystrophy 6
MedGen UID:
863306
Concept ID:
C4014869
Disease or Syndrome
Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Adipose tissue is normally found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat as a source of energy and also provides cushioning. In people with familial partial lipodystrophy, adipose tissue is lost from the arms, legs, and hips, giving these parts of the body a very muscular appearance. The fat that cannot be stored in the limbs builds up around the face and neck, and inside the abdomen. Excess fat in these areas gives individuals an appearance described as "cushingoid," because it resembles the physical features associated with a hormonal disorder called Cushing disease. This abnormal fat distribution can begin anytime from childhood to adulthood.Abnormal storage of fat in the body can lead to health problems in adulthood. Many people with familial partial lipodystrophy develop insulin resistance, a condition in which the body's tissues cannot adequately respond to insulin, which is a hormone that normally helps to regulate blood sugar levels. Insulin resistance may worsen to become a more serious disease called diabetes mellitus. Some people with familial partial lipodystrophy develop acanthosis nigricans, a skin condition related to high levels of insulin in the bloodstream. Acanthosis nigricans causes the skin in body folds and creases to become thick, dark, and velvety.Most people with familial partial lipodystrophy also have high levels of fats called triglycerides circulating in the bloodstream (hypertriglyceridemia), which can lead to inflammation of the pancreas (pancreatitis). Familial partial lipodystrophy can also cause an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly) and abnormal liver function. After puberty, some affected females develop multiple cysts on the ovaries, an increased amount of body hair (hirsutism), and an inability to conceive (infertility), which are likely related to hormonal changes.Researchers have described at least six forms of familial partial lipodystrophy, which are distinguished by their genetic cause. The most common form of familial partial lipodystrophy is type 2, also called Dunnigan disease. In addition to the signs and symptoms described above, some people with this type of the disorder develop muscle weakness (myopathy), abnormalities of the heart muscle (cardiomyopathy), a form of heart disease called coronary artery disease, and problems with the electrical system that coordinates the heartbeat (the conduction system).
Short stature, microcephaly, and endocrine dysfunction
MedGen UID:
895448
Concept ID:
C4225288
Disease or Syndrome
In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., 606593), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Recent clinical studies

Etiology

Zhao Z, Lu J, Han L, Wang X, Man Q, Liu S
Tumour Biol 2016 Jun;37(6):8121-30. Epub 2015 Dec 29 doi: 10.1007/s13277-015-4720-4. PMID: 26715271
Iimori S, Mori Y, Akita W, Takada S, Kuyama T, Ohnishi T, Shikuma S, Ishigami J, Tajima M, Asai T, Okado T, Kuwahara M, Sasaki S, Tsukamoto Y
Clin Exp Nephrol 2012 Dec;16(6):930-7. Epub 2012 May 12 doi: 10.1007/s10157-012-0640-4. PMID: 22581064
Wu JM, Skill NJ, Maluccio MA
HPB (Oxford) 2010 Nov;12(9):625-36. doi: 10.1111/j.1477-2574.2010.00207.x. PMID: 20961371Free PMC Article
Cheung O, Sanyal AJ
Semin Liver Dis 2008 Nov;28(4):351-9. Epub 2008 Oct 27 doi: 10.1055/s-0028-1091979. PMID: 18956291
Perseghin G
Curr Opin Lipidol 2005 Aug;16(4):416-20. PMID: 15990590

Diagnosis

Ku T, Zhang Y, Ji X, Li G, Sang N
Environ Pollut 2017 Sep;228:354-362. Epub 2017 May 25 doi: 10.1016/j.envpol.2017.05.040. PMID: 28551565
Liu Y, Ren Y, Gao H, Zeng L, Lin S, Zhang K
Int J Clin Pharmacol Ther 2017 Feb;55(2):156-162. doi: 10.5414/CP202602. PMID: 27719742
Natali A, Gastaldelli A, Camastra S, Baldi S, Quagliarini F, Minicocci I, Bruno C, Pennisi E, Arca M
J Clin Endocrinol Metab 2013 Sep;98(9):E1540-8. Epub 2013 Jul 3 doi: 10.1210/jc.2013-1444. PMID: 23824421
Noda K, Kodama S, Uemura N, Suzuki M
Auris Nasus Larynx 2010 Feb;37(1):134-6. Epub 2009 May 6 doi: 10.1016/j.anl.2009.02.013. PMID: 19423249
Huang S, Qiao J, Li R, Wang L, Li M
Fertil Steril 2010 Jun;94(1):205-10. Epub 2009 Apr 14 doi: 10.1016/j.fertnstert.2009.03.005. PMID: 19368908

Therapy

Liu Y, Ren Y, Gao H, Zeng L, Lin S, Zhang K
Int J Clin Pharmacol Ther 2017 Feb;55(2):156-162. doi: 10.5414/CP202602. PMID: 27719742
Elias PM
Biochim Biophys Acta 2014 Mar;1841(3):323-30. Epub 2013 Oct 12 doi: 10.1016/j.bbalip.2013.10.001. PMID: 24128970Free PMC Article
Iimori S, Mori Y, Akita W, Takada S, Kuyama T, Ohnishi T, Shikuma S, Ishigami J, Tajima M, Asai T, Okado T, Kuwahara M, Sasaki S, Tsukamoto Y
Clin Exp Nephrol 2012 Dec;16(6):930-7. Epub 2012 May 12 doi: 10.1007/s10157-012-0640-4. PMID: 22581064
Borchman D, Foulks GN, Yappert MC, Bell J, Wells E, Neravetla S, Greenstone V
Invest Ophthalmol Vis Sci 2011 Jun 1;52(6):3805-17. doi: 10.1167/iovs.10-6514. PMID: 21398284Free PMC Article
Noda K, Kodama S, Uemura N, Suzuki M
Auris Nasus Larynx 2010 Feb;37(1):134-6. Epub 2009 May 6 doi: 10.1016/j.anl.2009.02.013. PMID: 19423249

Prognosis

Zhao Z, Lu J, Han L, Wang X, Man Q, Liu S
Tumour Biol 2016 Jun;37(6):8121-30. Epub 2015 Dec 29 doi: 10.1007/s13277-015-4720-4. PMID: 26715271
Strain GW, Saif T, Ebel F, Dakin GF, Gagner M, Costa R, Chiu YL, Pomp A
Obes Surg 2015 Feb;25(2):285-9. doi: 10.1007/s11695-014-1351-6. PMID: 24980087
Kawaguchi Y, Mizuta T
World J Gastroenterol 2014 Mar 21;20(11):2888-901. doi: 10.3748/wjg.v20.i11.2888. PMID: 24659880Free PMC Article
Iimori S, Mori Y, Akita W, Takada S, Kuyama T, Ohnishi T, Shikuma S, Ishigami J, Tajima M, Asai T, Okado T, Kuwahara M, Sasaki S, Tsukamoto Y
Clin Exp Nephrol 2012 Dec;16(6):930-7. Epub 2012 May 12 doi: 10.1007/s10157-012-0640-4. PMID: 22581064
Noda K, Kodama S, Uemura N, Suzuki M
Auris Nasus Larynx 2010 Feb;37(1):134-6. Epub 2009 May 6 doi: 10.1016/j.anl.2009.02.013. PMID: 19423249

Clinical prediction guides

Iimori S, Mori Y, Akita W, Takada S, Kuyama T, Ohnishi T, Shikuma S, Ishigami J, Tajima M, Asai T, Okado T, Kuwahara M, Sasaki S, Tsukamoto Y
Clin Exp Nephrol 2012 Dec;16(6):930-7. Epub 2012 May 12 doi: 10.1007/s10157-012-0640-4. PMID: 22581064
Borchman D, Foulks GN, Yappert MC, Bell J, Wells E, Neravetla S, Greenstone V
Invest Ophthalmol Vis Sci 2011 Jun 1;52(6):3805-17. doi: 10.1167/iovs.10-6514. PMID: 21398284Free PMC Article
Zhu X, Cheng SY
Curr Opin Endocrinol Diabetes Obes 2010 Oct;17(5):408-13. doi: 10.1097/MED.0b013e32833d6d46. PMID: 20644471Free PMC Article
Boschmann M, Engeli S, Moro C, Luedtke A, Adams F, Gorzelniak K, Rahn G, Mähler A, Dobberstein K, Krüger A, Schmidt S, Spuler S, Luft FC, Smith SR, Schmidt HH, Jordan J
J Clin Endocrinol Metab 2010 Apr;95(4):1634-43. Epub 2010 Feb 3 doi: 10.1210/jc.2009-1293. PMID: 20130076Free PMC Article
Noda K, Kodama S, Uemura N, Suzuki M
Auris Nasus Larynx 2010 Feb;37(1):134-6. Epub 2009 May 6 doi: 10.1016/j.anl.2009.02.013. PMID: 19423249

Recent systematic reviews

Knowles JW, Xie W, Zhang Z, Chennamsetty I, Assimes TL, Paananen J, Hansson O, Pankow J, Goodarzi MO, Carcamo-Orive I, Morris AP, Chen YD, Mäkinen VP, Ganna A, Mahajan A, Guo X, Abbasi F, Greenawalt DM, Lum P, Molony C, Lind L, Lindgren C, Raffel LJ, Tsao PS; RISC (Relationship between Insulin Sensitivity and Cardiovascular Disease) Consortium.; EUGENE2 (European Network on Functional Genomics of Type 2 Diabetes) Study.; GUARDIAN (Genetics UndeRlying DIAbetes in HispaNics) Consortium.; SAPPHIRe (Stanford Asian and Pacific Program for Hypertension and Insulin Resistance) Study., Schadt EE, Rotter JI, Sinaiko A, Reaven G, Yang X, Hsiung CA, Groop L, Cordell HJ, Laakso M, Hao K, Ingelsson E, Frayling TM, Weedon MN, Walker M, Quertermous T
J Clin Invest 2015 Apr;125(4):1739-51. Epub 2015 Mar 23 doi: 10.1172/JCI74692. PMID: 25798622Free PMC Article
King MJ, Garçon L, Hoyer JD, Iolascon A, Picard V, Stewart G, Bianchi P, Lee SH, Zanella A; International Council for Standardization in Haematology.
Int J Lab Hematol 2015 Jun;37(3):304-25. Epub 2015 Mar 18 doi: 10.1111/ijlh.12335. PMID: 25790109
Petryk A, Kanakatti Shankar R, Giri N, Hollenberg AN, Rutter MM, Nathan B, Lodish M, Alter BP, Stratakis CA, Rose SR
J Clin Endocrinol Metab 2015 Mar;100(3):803-11. Epub 2015 Jan 9 doi: 10.1210/jc.2014-4357. PMID: 25575015Free PMC Article
Lindner M, Hoffmann GF, Matern D
J Inherit Metab Dis 2010 Oct;33(5):521-6. Epub 2010 Apr 7 doi: 10.1007/s10545-010-9076-8. PMID: 20373143
Jing Z, Liang-Zhi X, Tai-Xiang W, Ying T, Yu-Jian J
Gynecol Endocrinol 2008 Oct;24(10):590-600. doi: 10.1080/09513590802288242. PMID: 19012104

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