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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
Development of Antisense Oligonucleotide Gapmers for the Treatment of Dyslipidemia and Lipodystrophy.
Aslesh T, Yokota T
Methods Mol Biol 2020;2176:69-85. doi: 10.1007/978-1-0716-0771-8_5. PMID: 32865783
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

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
The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.
Chait A, Eckel RH
Ann Intern Med 2019 May 7;170(9):626-634. Epub 2019 Apr 30 doi: 10.7326/M19-0203. PMID: 31035285
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
Genetics of metabolic syndrome: is there a role for phenomics?
Joy T, Hegele RA
Curr Atheroscler Rep 2008 Jun;10(3):201-8. doi: 10.1007/s11883-008-0032-0. PMID: 18489847
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

FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism.
Friesen M, Cowan CA
Biochem Biophys Res Commun 2018 Jan 1;495(1):254-260. Epub 2017 Nov 3 doi: 10.1016/j.bbrc.2017.11.008. PMID: 29108996
C3 nephritic factors: A changing landscape.
Levy Erez D, Meyers KE, Sullivan KE
J Allergy Clin Immunol 2017 Jul;140(1):57-59. Epub 2017 Mar 16 doi: 10.1016/j.jaci.2017.02.018. PMID: 28322851Free PMC Article
Choroidal neovascularization in acquired partial lipodystrophy.
Broadhead GK, Chang A
Eur J Ophthalmol 2013 May-Jun;23(3):439-41. Epub 2013 Mar 6 doi: 10.5301/ejo.5000271. PMID: 23483505
Genetics of metabolic syndrome: is there a role for phenomics?
Joy T, Hegele RA
Curr Atheroscler Rep 2008 Jun;10(3):201-8. doi: 10.1007/s11883-008-0032-0. PMID: 18489847
Environmental modulation of atherosclerosis end points in familial hypercholesterolemia.
Hegele RA
Atheroscler Suppl 2002 Mar;2(3):5-7. doi: 10.1016/s1567-5688(01)00013-7. PMID: 11923122

Therapy

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
Development and Clinical Applications of Antisense Oligonucleotide Gapmers.
Chan L, Yokota T
Methods Mol Biol 2020;2176:21-47. doi: 10.1007/978-1-0716-0771-8_2. PMID: 32865780
The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment.
Chait A, Eckel RH
Ann Intern Med 2019 May 7;170(9):626-634. Epub 2019 Apr 30 doi: 10.7326/M19-0203. PMID: 31035285
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
Environmental modulation of atherosclerosis end points in familial hypercholesterolemia.
Hegele RA
Atheroscler Suppl 2002 Mar;2(3):5-7. doi: 10.1016/s1567-5688(01)00013-7. PMID: 11923122

Prognosis

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
Nephrotic range proteinuria associated with focal segmental glomerulosclerosis reversed with pioglitazone therapy in a patient with Dunnigan type lipodystrophy.
Sharma A, Bourey RE, Edwards JC, Brink DS, Albert SG
Diabetes Res Clin Pract 2021 Feb;172:108620. Epub 2020 Dec 13 doi: 10.1016/j.diabres.2020.108620. PMID: 33316307
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
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M
Neurology 2002 Aug 27;59(4):620-3. doi: 10.1212/wnl.59.4.620. PMID: 12196663

Clinical prediction guides

A Pharmacogenetic Approach to the Treatment of Patients With PPARG Mutations.
Agostini M, Schoenmakers E, Beig J, Fairall L, Szatmari I, Rajanayagam O, Muskett FW, Adams C, Marais AD, O'Rahilly S, Semple RK, Nagy L, Majithia AR, Schwabe JWR, Blom DJ, Murphy R, Chatterjee K, Savage DB
Diabetes 2018 Jun;67(6):1086-1092. Epub 2018 Apr 5 doi: 10.2337/db17-1236. PMID: 29622583Free 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
Emerin-prelamin A interplay in human fibroblasts.
Capanni C, Del Coco R, Mattioli E, Camozzi D, Columbaro M, Schena E, Merlini L, Squarzoni S, Maraldi NM, Lattanzi G
Biol Cell 2009 Sep;101(9):541-54. doi: 10.1042/BC20080175. PMID: 19323649
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
Environmental modulation of atherosclerosis end points in familial hypercholesterolemia.
Hegele RA
Atheroscler Suppl 2002 Mar;2(3):5-7. doi: 10.1016/s1567-5688(01)00013-7. PMID: 11923122

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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