U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Adipose tissue loss

MedGen UID:
870181
Concept ID:
C4024615
Finding
Synonym: Loss of fat tissue
 
HPO: HP:0008887

Definition

A loss of adipose tissue. [from HPO]

Conditions with this feature

Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Familial partial lipodystrophy, Dunnigan type
MedGen UID:
354526
Concept ID:
C1720860
Disease or Syndrome
Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
Proteasome-associated autoinflammatory syndrome-1 (PRAAS1) is an autosomal recessive disorder characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22; and PRAAS6 (620796), caused by mutation in the PSMB9 gene (177045) on chromosome 6p21.

Professional guidelines

PubMed

Ru Q, Chen L, Xu G, Wu Y
J Transl Med 2024 Apr 30;22(1):408. doi: 10.1186/s12967-024-05201-y. PMID: 38689293Free PMC Article
Zarifi SH, Bagherniya M, Banach M, Johnston TP, Sahebkar A
Clin Nutr 2022 Dec;41(12):2843-2857. Epub 2022 Nov 9 doi: 10.1016/j.clnu.2022.11.009. PMID: 36403384
Mainieri F, Tagi VM, Chiarelli F
Front Endocrinol (Lausanne) 2022;13:879979. Epub 2022 May 4 doi: 10.3389/fendo.2022.879979. PMID: 35600578Free PMC Article

Recent clinical studies

Etiology

Mainieri F, Tagi VM, Chiarelli F
Front Endocrinol (Lausanne) 2022;13:879979. Epub 2022 May 4 doi: 10.3389/fendo.2022.879979. PMID: 35600578Free PMC Article
Le Lay S, Magré J, Prieur X
Front Endocrinol (Lausanne) 2022;13:785819. Epub 2022 Feb 18 doi: 10.3389/fendo.2022.785819. PMID: 35250856Free PMC Article
Han J, Tang M, Lu C, Shen L, She J, Wu G
Clin Nutr 2021 Sep;40(9):5156-5161. Epub 2021 Aug 17 doi: 10.1016/j.clnu.2021.08.003. PMID: 34461589
Heymsfield SB, Coleman LA, Miller R, Rooks DS, Laurent D, Petricoul O, Praestgaard J, Swan T, Wade T, Perry RG, Goodpaster BH, Roubenoff R
JAMA Netw Open 2021 Jan 4;4(1):e2033457. doi: 10.1001/jamanetworkopen.2020.33457. PMID: 33439265Free PMC Article
Stubbins R, Bernicker EH, Quigley EMM
Curr Opin Gastroenterol 2020 Mar;36(2):141-146. doi: 10.1097/MOG.0000000000000603. PMID: 31895232

Diagnosis

Babic A, Rosenthal MH, Sundaresan TK, Khalaf N, Lee V, Brais LK, Loftus M, Caplan L, Denning S, Gurung A, Harrod J, Schawkat K, Yuan C, Wang QL, Lee AA, Biller LH, Yurgelun MB, Ng K, Nowak JA, Aguirre AJ, Bhatia SN, Vander Heiden MG, Van Den Eeden SK, Caan BJ, Wolpin BM
Nat Commun 2023 Jul 18;14(1):4317. doi: 10.1038/s41467-023-40024-3. PMID: 37463915Free PMC Article
Le Lay S, Magré J, Prieur X
Front Endocrinol (Lausanne) 2022;13:785819. Epub 2022 Feb 18 doi: 10.3389/fendo.2022.785819. PMID: 35250856Free PMC Article
Stubbins R, Bernicker EH, Quigley EMM
Curr Opin Gastroenterol 2020 Mar;36(2):141-146. doi: 10.1097/MOG.0000000000000603. PMID: 31895232
Prado CM, Birdsell LA, Baracos VE
Curr Opin Support Palliat Care 2009 Dec;3(4):269-75. doi: 10.1097/SPC.0b013e328331124a. PMID: 19667996
Laviano A, Inui A, Meguid MM, Molfino A, Conte C, Rossi Fanelli F
Nutrition 2008 Sep;24(9):802-5. Epub 2008 Jul 26 doi: 10.1016/j.nut.2008.06.005. PMID: 18662859

Therapy

Zarifi SH, Bagherniya M, Banach M, Johnston TP, Sahebkar A
Clin Nutr 2022 Dec;41(12):2843-2857. Epub 2022 Nov 9 doi: 10.1016/j.clnu.2022.11.009. PMID: 36403384
Mainieri F, Tagi VM, Chiarelli F
Front Endocrinol (Lausanne) 2022;13:879979. Epub 2022 May 4 doi: 10.3389/fendo.2022.879979. PMID: 35600578Free PMC Article
Nishioka N, Naito T, Miyawaki T, Yabe M, Doshita K, Kodama H, Miyawaki E, Iida Y, Mamesaya N, Kobayashi H, Omori S, Ko R, Wakuda K, Ono A, Kenmotsu H, Murakami H, Takayama K, Takahashi T
Thorac Cancer 2022 May;13(10):1496-1504. Epub 2022 Apr 14 doi: 10.1111/1759-7714.14421. PMID: 35420262Free PMC Article
Heymsfield SB, Coleman LA, Miller R, Rooks DS, Laurent D, Petricoul O, Praestgaard J, Swan T, Wade T, Perry RG, Goodpaster BH, Roubenoff R
JAMA Netw Open 2021 Jan 4;4(1):e2033457. doi: 10.1001/jamanetworkopen.2020.33457. PMID: 33439265Free PMC Article
Howland RH
J Psychosoc Nurs Ment Health Serv 2015 Mar;53(3):13-6. doi: 10.3928/02793695-20150219-01. PMID: 25751824

Prognosis

Nishioka N, Naito T, Miyawaki T, Yabe M, Doshita K, Kodama H, Miyawaki E, Iida Y, Mamesaya N, Kobayashi H, Omori S, Ko R, Wakuda K, Ono A, Kenmotsu H, Murakami H, Takayama K, Takahashi T
Thorac Cancer 2022 May;13(10):1496-1504. Epub 2022 Apr 14 doi: 10.1111/1759-7714.14421. PMID: 35420262Free PMC Article
Uy M, Lena RD, Hoogenes J, Al-Harbi B, Woodward A, Shayegan B, Matsumoto ED
Can J Urol 2022 Feb;29(1):11005-11011. PMID: 35150223
Sun D, Ding Z, Shen L, Yang F, Han J, Wu G
Lipids Health Dis 2021 Sep 25;20(1):115. doi: 10.1186/s12944-021-01530-9. PMID: 34563222Free PMC Article
Han J, Tang M, Lu C, Shen L, She J, Wu G
Clin Nutr 2021 Sep;40(9):5156-5161. Epub 2021 Aug 17 doi: 10.1016/j.clnu.2021.08.003. PMID: 34461589
Laviano A, Inui A, Marks DL, Meguid MM, Pichard C, Rossi Fanelli F, Seelaender M
Am J Physiol Endocrinol Metab 2008 Nov;295(5):E1000-8. Epub 2008 Aug 19 doi: 10.1152/ajpendo.90252.2008. PMID: 18713954

Clinical prediction guides

Peng K, Chen X, Pei K, Wang X, Ma X, Liang C, Dong Q, Liu Z, Han M, Liu G, Yang H, Zheng M, Liu G, Gao M
Biochim Biophys Acta Mol Basis Dis 2024 Jan;1870(1):166850. Epub 2023 Aug 15 doi: 10.1016/j.bbadis.2023.166850. PMID: 37591406
Uy M, Lena RD, Hoogenes J, Al-Harbi B, Woodward A, Shayegan B, Matsumoto ED
Can J Urol 2022 Feb;29(1):11005-11011. PMID: 35150223
Luan Y, Zhang Y, Yu SY, You M, Xu PC, Chung S, Kurita T, Zhu J, Kim SY
J Cachexia Sarcopenia Muscle 2022 Apr;13(2):1289-1301. Epub 2022 Jan 19 doi: 10.1002/jcsm.12864. PMID: 35044098Free PMC Article
Han J, Tang M, Lu C, Shen L, She J, Wu G
Clin Nutr 2021 Sep;40(9):5156-5161. Epub 2021 Aug 17 doi: 10.1016/j.clnu.2021.08.003. PMID: 34461589
Steiner JL, Lang CH
Biomolecules 2017 Feb 16;7(1) doi: 10.3390/biom7010016. PMID: 28212318Free PMC Article

Recent systematic reviews

Besci O, Foss de Freitas MC, Guidorizzi NR, Guler MC, Gilio D, Maung JN, Schill RL, Hoose KS, Obua BN, Gomes AD, Yıldırım Şimşir I, Demir K, Akinci B, MacDougald OA, Oral EA
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1204-e1224. doi: 10.1210/clinem/dgad606. PMID: 37843397Free PMC Article
Hammond S, Erridge S, Mangal N, Pacchetti B, Sodergren MH
Cannabis Cannabinoid Res 2021 Dec;6(6):474-487. Epub 2021 Oct 18 doi: 10.1089/can.2021.0048. PMID: 34664988Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...