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CIDEC-related familial partial lipodystrophy(FPLD5)

MedGen UID:
815270
•Concept ID:
C3808940
•
Disease or Syndrome
Synonyms: Familial partial lipodystrophy 5; LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH CIDEC MUTATIONS
SNOMED CT: Cell death inducing DFFA like effector C-related familial partial lipodystrophy (1197749008); CIDEC-related familial partial lipodystrophy (1197749008); FPLD5 - familial partial lipodystrophy type 5 (1197749008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CIDEC (3p25.3)
 
Monarch Initiative: MONDO:0014098
OMIM®: 615238
Orphanet: ORPHA435651

Definition

A rare genetic lipodystrophy with characteristics of abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and gluteofemoral subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidaemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. [from SNOMEDCT_US]

Clinical features

From HPO
Irregular menstruation
MedGen UID:
56379
•Concept ID:
C0156404
•
Finding
Abnormally high variation in the amount of time between periods.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Hepatomegaly
MedGen UID:
42428
•Concept ID:
C0019209
•
Finding
Abnormally increased size of the liver.
See: Feature record | Search on this feature
Hepatic steatosis
MedGen UID:
398225
•Concept ID:
C2711227
•
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
See: Feature record | Search on this feature
Lipodystrophy
MedGen UID:
6111
•Concept ID:
C0023787
•
Disease or Syndrome
Degenerative changes of the fat tissue.
See: Feature record | Search on this feature
Diabetic ketoacidosis
MedGen UID:
8351
•Concept ID:
C0011880
•
Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
See: Feature record | Search on this feature
Hypertriglyceridemia
MedGen UID:
167238
•Concept ID:
C0813230
•
Finding
An abnormal increase in the level of triglycerides in the blood.
See: Feature record | Search on this feature
Increased C-peptide level
MedGen UID:
894029
•Concept ID:
C4280763
•
Finding
An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.
See: Feature record | Search on this feature
Acanthosis nigricans
MedGen UID:
54
•Concept ID:
C0000889
•
Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
See: Feature record | Search on this feature
Decreased serum leptin
MedGen UID:
373413
•Concept ID:
C1837802
•
Finding
A decreased concentration of leptin in the blood.
See: Feature record | Search on this feature
Decreased adiponectin level
MedGen UID:
892903
•Concept ID:
C4073127
•
Finding
A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Partial lipodystrophy: Clinical presentation and treatment.
Mosbah H, Vatier C, Vigouroux C
Ann Endocrinol (Paris) 2024 Jun;85(3):197-200. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.015. PMID: 38871513
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O
Eur J Hum Genet 2017 Feb;25(2) Epub 2016 Aug 3 doi: 10.1038/ejhg.2016.102. PMID: 27485410Free PMC Article

Recent clinical studies

Etiology

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
A Comprehensive Update on the Chylomicronemia Syndrome.
Goldberg RB, Chait A
Front Endocrinol (Lausanne) 2020;11:593931. Epub 2020 Oct 23 doi: 10.3389/fendo.2020.593931. PMID: 33193106Free PMC Article
Diverse lamin-dependent mechanisms interact to control chromatin dynamics. Focus on laminopathies.
Camozzi D, Capanni C, Cenni V, Mattioli E, Columbaro M, Squarzoni S, Lattanzi G
Nucleus 2014 Sep-Oct;5(5):427-40. doi: 10.4161/nucl.36289. PMID: 25482195Free PMC Article
Lipoatrophy revisited.
Reitman ML, Arioglu E, Gavrilova O, Taylor SI
Trends Endocrinol Metab 2000 Dec;11(10):410-6. doi: 10.1016/s1043-2760(00)00309-x. PMID: 11091118

Diagnosis

Lipomatoses.
Dupuis H, Lemaitre M, Jannin A, Douillard C, Espiard S, Vantyghem MC
Ann Endocrinol (Paris) 2024 Jun;85(3):231-247. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.003. PMID: 38871514
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D
Presse Med 2021 Nov;50(3):104071. Epub 2021 Oct 2 doi: 10.1016/j.lpm.2021.104071. PMID: 34610417
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I, Vatier C, Araujo-Vilar D, Vigouroux C, Lascols O
Eur J Hum Genet 2017 Feb;25(2) Epub 2016 Aug 3 doi: 10.1038/ejhg.2016.102. PMID: 27485410Free PMC Article
Lipodystrophies.
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Partial lipodystrophy: Clinical presentation and treatment.
Mosbah H, Vatier C, Vigouroux C
Ann Endocrinol (Paris) 2024 Jun;85(3):197-200. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.015. PMID: 38871513
Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Lipodystrophy for the Diabetologist-What to Look For.
Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D
Presse Med 2021 Nov;50(3):104071. Epub 2021 Oct 2 doi: 10.1016/j.lpm.2021.104071. PMID: 34610417
Skin disorders and sleep in adults: where is the evidence?
Thorburn PT, Riha RL
Sleep Med Rev 2010 Dec;14(6):351-8. Epub 2010 Feb 25 doi: 10.1016/j.smrv.2009.12.001. PMID: 20188609

Prognosis

Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits.
Agrawal S, Luan J, Cummings BB, Weiss EJ, Wareham NJ, Khera AV
Diabetes 2024 Jul 1;73(7):1099-1111. doi: 10.2337/db23-0575. PMID: 38345889Free PMC Article
Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Kountouri A, Korakas E, Maratou E, Ikonomidis I, Balampanis K, Liatis S, Tentolouris N, Toulas P, Kousathana F, Giatzakis C, Dimitriadis GD, Lambadiari V
Int J Mol Sci 2023 Jul 27;24(15) doi: 10.3390/ijms241512045. PMID: 37569420Free PMC Article
Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome.
Guillín-Amarelle C, Sánchez-Iglesias S, Castro-Pais A, Rodriguez-Cañete L, Ordóñez-Mayán L, Pazos M, González-Méndez B, Rodríguez-García S, Casanueva FF, Fernández-Marmiesse A, Araújo-Vilar D
Endocrine 2016 Nov;54(2):411-421. Epub 2016 Jul 30 doi: 10.1007/s12020-016-1002-x. PMID: 27473102
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960
Childhood acquired lipodystrophy: a retrospective study.
Pope E, Janson A, Khambalia A, Feldman B
J Am Acad Dermatol 2006 Dec;55(6):947-50. Epub 2006 Jun 13 doi: 10.1016/j.jaad.2006.05.005. PMID: 17097389

Clinical prediction guides

Clinical and imaging features of women with polygenic partial lipodystrophy: a case series.
Loh WJ, Yaligar J, Hooper AJ, Sadananthan SA, Kway Y, Lim SC, Watts GF, Velan SS, Leow MKS, Khoo J
Nutr Diabetes 2024 Feb 6;14(1):3. doi: 10.1038/s41387-024-00260-y. PMID: 38321009Free PMC Article
Advances in the care of lipodystrophies.
Shamsudeen I, Hegele RA
Curr Opin Endocrinol Diabetes Obes 2022 Apr 1;29(2):152-160. doi: 10.1097/MED.0000000000000695. PMID: 34839327
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Human congenital perilipin deficiency and insulin resistance.
Kozusko K, Patel S, Savage DB
Endocr Dev 2013;24:150-5. Epub 2013 Feb 1 doi: 10.1159/000342511. PMID: 23392103
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960

Recent systematic reviews

Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
Desgrouas C, Thalheim T, Cerino M, Badens C, Bonello-Palot N
Cardiovasc Res 2024 Mar 14;120(3):237-248. doi: 10.1093/cvr/cvae005. PMID: 38214891
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Moraña T, Araujo-Vilar D
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050725. PMID: 36899861Free PMC Article
Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review.
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article

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