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Inherited lipid metabolism disorder

MedGen UID:
57587
•Concept ID:
C0154251
•
Disease or Syndrome
Synonyms: Lipid Metabolism Disorder; Lipid Metabolism Disorders; Metabolism Disorder, Lipid; Metabolism Disorders, Lipid
SNOMED CT: Lipid metabolism disorder (267431006); Disorder of lipid metabolism (267431006)
 
Monarch Initiative: MONDO:0002525
Orphanet: ORPHA309005

Definition

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited lipid metabolism disorder
Follow this link to review classifications for Inherited lipid metabolism disorder in Orphanet.

Professional guidelines

PubMed

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.
Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, Prakash S, Semsarian C, Sturm AC; American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Circ Genom Precis Med 2020 Aug;13(4):e000067. Epub 2020 Jul 23 doi: 10.1161/HCG.0000000000000067. PMID: 32698598
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.
Mahmud HM
J Pak Med Assoc 2014 Feb;64(2):189-94. PMID: 24640811

Recent clinical studies

Etiology

Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M, Boileau C
J Intern Med 2023 Feb;293(2):144-165. Epub 2022 Oct 17 doi: 10.1111/joim.13577. PMID: 36196022Free PMC Article
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Zubielienė K, Valterytė G, Jonaitienė N, Žaliaduonytė D, Zabiela V
Medicina (Kaunas) 2022 Nov 17;58(11) doi: 10.3390/medicina58111665. PMID: 36422206Free PMC Article
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
Bertolini S, Calandra S, Arca M, Averna M, Catapano AL, Tarugi P; Italian Study Group of Homozygous Familial Hypercholesterolemia
Atherosclerosis 2020 Nov;312:72-78. Epub 2020 Sep 9 doi: 10.1016/j.atherosclerosis.2020.08.027. PMID: 32977124
Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.
Benito-Vicente A, Uribe KB, Jebari S, Galicia-Garcia U, Ostolaza H, Martin C
Int J Mol Sci 2018 Nov 1;19(11) doi: 10.3390/ijms19113426. PMID: 30388787Free PMC Article
Niemann-Pick diseases.
Vanier MT
Handb Clin Neurol 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. PMID: 23622394

Diagnosis

Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease.
Benito-Vicente A, Uribe KB, Jebari S, Galicia-Garcia U, Ostolaza H, Martin C
Int J Mol Sci 2018 Nov 1;19(11) doi: 10.3390/ijms19113426. PMID: 30388787Free PMC Article
Familial hypercholesterolaemia.
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857
Niemann-Pick diseases.
Vanier MT
Handb Clin Neurol 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. PMID: 23622394

Therapy

World Heart Federation Cholesterol Roadmap 2022.
Ray KK, Ference BA, Séverin T, Blom D, Nicholls SJ, Shiba MH, Almahmeed W, Alonso R, Daccord M, Ezhov M, Olmo RF, Jankowski P, Lanas F, Mehta R, Puri R, Wong ND, Wood D, Zhao D, Gidding SS, Virani SS, Lloyd-Jones D, Pinto F, Perel P, Santos RD
Glob Heart 2022;17(1):75. Epub 2022 Oct 14 doi: 10.5334/gh.1154. PMID: 36382159Free PMC Article
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week.
Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M
J Am Coll Cardiol 2021 Feb 23;77(7):922-936. doi: 10.1016/j.jacc.2020.12.024. PMID: 33602475
Familial hypercholesterolaemia.
Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS
Nat Rev Dis Primers 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. PMID: 29219151
Familial hypercholesterolemia.
Bouhairie VE, Goldberg AC
Cardiol Clin 2015 May;33(2):169-79. doi: 10.1016/j.ccl.2015.01.001. PMID: 25939291Free PMC Article
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Singh S, Bittner V
Curr Atheroscler Rep 2015;17(2):482. doi: 10.1007/s11883-014-0482-5. PMID: 25612857

Prognosis

Medium-chain Acyl-COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment.
Mason E, Hindmarch CCT, Dunham-Snary KJ
Endocrinol Diabetes Metab 2023 Jan;6(1):e385. Epub 2022 Oct 27 doi: 10.1002/edm2.385. PMID: 36300606Free PMC Article
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ
Nat Rev Dis Primers 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. PMID: 30275469
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM
Curr Gene Ther 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622. PMID: 29618308Free PMC Article

Clinical prediction guides

The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C
Mol Genet Metab 2022 May;136(1):4-21. Epub 2022 Mar 9 doi: 10.1016/j.ymgme.2022.03.001. PMID: 35367141
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Genetics of Hypertriglyceridemia.
Dron JS, Hegele RA
Front Endocrinol (Lausanne) 2020;11:455. Epub 2020 Jul 24 doi: 10.3389/fendo.2020.00455. PMID: 32793115Free PMC Article
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
Hegele RA, Ginsberg HN, Chapman MJ, Nordestgaard BG, Kuivenhoven JA, Averna M, Borén J, Bruckert E, Catapano AL, Descamps OS, Hovingh GK, Humphries SE, Kovanen PT, Masana L, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A, Watts GF, Wiklund O; European Atherosclerosis Society Consensus Panel
Lancet Diabetes Endocrinol 2014 Aug;2(8):655-66. Epub 2013 Dec 23 doi: 10.1016/S2213-8587(13)70191-8. PMID: 24731657Free PMC Article
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE
Hum Mutat 2012 Jan;33(1):42-63. Epub 2011 Nov 16 doi: 10.1002/humu.21624. PMID: 21990111

Recent systematic reviews

Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E, Ramaswami U
Cochrane Database Syst Rev 2017 Jul 7;7(7):CD006401. doi: 10.1002/14651858.CD006401.pub4. PMID: 28685504Free PMC Article
Statins for children with familial hypercholesterolemia.
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Tonstad S, Wiegman A, Drogari E
Cochrane Database Syst Rev 2014 Jul 23;(7):CD006401. doi: 10.1002/14651858.CD006401.pub3. PMID: 25054950
Cognitive dysfunction and depression in Fabry disease: a systematic review.
Bolsover FE, Murphy E, Cipolotti L, Werring DJ, Lachmann RH
J Inherit Metab Dis 2014 Mar;37(2):177-87. Epub 2013 Aug 16 doi: 10.1007/s10545-013-9643-x. PMID: 23949010
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.
Arends M, van Dussen L, Biegstraaten M, Hollak CE
Br J Haematol 2013 Jun;161(6):832-42. Epub 2013 Apr 18 doi: 10.1111/bjh.12335. PMID: 23594419
Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment.
Piran S, Amato D
J Inherit Metab Dis 2010 Jun;33(3):271-9. Epub 2010 Mar 25 doi: 10.1007/s10545-010-9071-0. PMID: 20336376

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