U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Increased intramuscular fat

MedGen UID:
331963
Concept ID:
C1835389
Finding
Synonym: Increased IM fat
 
HPO: HP:0008985

Definition

An abnormal increase in the amount of intramuscular fat tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased intramuscular fat

Conditions with this feature

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.

Professional guidelines

PubMed

Benedini S, Terruzzi I, Lazzarin A, Luzi L
BioDrugs 2008;22(2):101-12. doi: 10.2165/00063030-200822020-00003. PMID: 18345707

Recent clinical studies

Etiology

Sun D, Wang Z, Mou J, Tian F, Cao J, Guo L, Liu P
Clin Neurol Neurosurg 2022 Dec;223:107484. Epub 2022 Oct 21 doi: 10.1016/j.clineuro.2022.107484. PMID: 36335864
Sions JM, Beisheim EH, Hoggarth MA, Elliott JM, Hicks GE, Pohlig RT, Seth M
Arch Phys Med Rehabil 2021 Jul;102(7):1331-1339. Epub 2021 Mar 5 doi: 10.1016/j.apmr.2021.02.008. PMID: 33684366Free PMC Article
Du M, Yan X, Tong JF, Zhao J, Zhu MJ
Biol Reprod 2010 Jan;82(1):4-12. Epub 2009 Jun 10 doi: 10.1095/biolreprod.109.077099. PMID: 19516021Free PMC Article
Benedini S, Terruzzi I, Lazzarin A, Luzi L
BioDrugs 2008;22(2):101-12. doi: 10.2165/00063030-200822020-00003. PMID: 18345707
Ryan AS, Dobrovolny CL, Smith GV, Silver KH, Macko RF
Arch Phys Med Rehabil 2002 Dec;83(12):1703-7. doi: 10.1053/apmr.2002.36399. PMID: 12474173

Diagnosis

Resorlu H, Savas Y, Aylanc N, Gokmen F
Mod Rheumatol 2017 Jul;27(4):683-687. Epub 2016 Oct 27 doi: 10.1080/14397595.2016.1245176. PMID: 27785930
Zaidman CM, van Alfen N
J Clin Neurophysiol 2016 Apr;33(2):103-11. doi: 10.1097/WNP.0000000000000245. PMID: 27035250
Janssen BH, Voet NB, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A
PLoS One 2014;9(1):e85416. Epub 2014 Jan 14 doi: 10.1371/journal.pone.0085416. PMID: 24454861Free PMC Article
Hadigan C, Liebau J, Andersen R, Holalkere NS, Sahani DV
J Acquir Immune Defic Syndr 2007 Nov 1;46(3):312-7. doi: 10.1097/QAI.0b013e3181568cc2. PMID: 17721396

Therapy

Murnane LC, Forsyth AK, Koukounaras J, Pilgrim CH, Shaw K, Brown WA, Mourtzakis M, Tierney AC, Burton PR
Eur J Surg Oncol 2021 Sep;47(9):2295-2303. Epub 2021 Feb 19 doi: 10.1016/j.ejso.2021.02.008. PMID: 33640171
Lester RM, Ghatas MP, Khan RM, Gorgey AS
J Spinal Cord Med 2019 Sep;42(5):622-630. Epub 2019 Feb 1 doi: 10.1080/10790268.2019.1570438. PMID: 30707654Free PMC Article
Akazawa N, Harada K, Okawa N, Tamura K, Moriyama H
PLoS One 2019;14(1):e0211145. Epub 2019 Jan 18 doi: 10.1371/journal.pone.0211145. PMID: 30657790Free PMC Article
Moran L, O'Sullivan MG, Kerry JP, Picard B, McGee M, O'Riordan EG, Moloney AP
Meat Sci 2017 Mar;125:76-83. Epub 2016 Nov 29 doi: 10.1016/j.meatsci.2016.11.021. PMID: 27918928
Benedini S, Terruzzi I, Lazzarin A, Luzi L
BioDrugs 2008;22(2):101-12. doi: 10.2165/00063030-200822020-00003. PMID: 18345707

Prognosis

Murnane LC, Forsyth AK, Koukounaras J, Pilgrim CH, Shaw K, Brown WA, Mourtzakis M, Tierney AC, Burton PR
Eur J Surg Oncol 2021 Sep;47(9):2295-2303. Epub 2021 Feb 19 doi: 10.1016/j.ejso.2021.02.008. PMID: 33640171
Maeda H, Imada K, Ishida K, Akima H
Eur Neurol 2020;83(2):167-173. Epub 2020 May 25 doi: 10.1159/000507548. PMID: 32450559
Lester RM, Ghatas MP, Khan RM, Gorgey AS
J Spinal Cord Med 2019 Sep;42(5):622-630. Epub 2019 Feb 1 doi: 10.1080/10790268.2019.1570438. PMID: 30707654Free PMC Article
Zhang Y, Wang Y, Wang H, Ma X, Zan L
Mol Cell Probes 2019 Apr;44:29-36. Epub 2019 Jan 28 doi: 10.1016/j.mcp.2019.01.005. PMID: 30703449
Janssen BH, Voet NB, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A
PLoS One 2014;9(1):e85416. Epub 2014 Jan 14 doi: 10.1371/journal.pone.0085416. PMID: 24454861Free PMC Article

Clinical prediction guides

Murnane LC, Forsyth AK, Koukounaras J, Pilgrim CH, Shaw K, Brown WA, Mourtzakis M, Tierney AC, Burton PR
Eur J Surg Oncol 2021 Sep;47(9):2295-2303. Epub 2021 Feb 19 doi: 10.1016/j.ejso.2021.02.008. PMID: 33640171
Maeda H, Imada K, Ishida K, Akima H
Eur Neurol 2020;83(2):167-173. Epub 2020 May 25 doi: 10.1159/000507548. PMID: 32450559
Nijholt W, Jager-Wittenaar H, Raj IS, van der Schans CP, Hobbelen H
Clin Nutr ESPEN 2020 Feb;35:146-152. Epub 2019 Nov 27 doi: 10.1016/j.clnesp.2019.10.009. PMID: 31987109
Zhang Y, Wang Y, Wang H, Ma X, Zan L
Mol Cell Probes 2019 Apr;44:29-36. Epub 2019 Jan 28 doi: 10.1016/j.mcp.2019.01.005. PMID: 30703449
Resorlu H, Savas Y, Aylanc N, Gokmen F
Mod Rheumatol 2017 Jul;27(4):683-687. Epub 2016 Oct 27 doi: 10.1080/14397595.2016.1245176. PMID: 27785930

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...