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Cardiac lipidosis, familial

MedGen UID:
395234
•Concept ID:
C1859332
•
Disease or Syndrome
Synonym: Cardiac Lipidosis, Familial
 
Monarch Initiative: MONDO:0008911
OMIM®: 212080

Clinical features

From HPO
Congestive heart failure
MedGen UID:
9169
•Concept ID:
C0018802
•
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
See: Feature record | Search on this feature
Cardiomyopathy
MedGen UID:
209232
•Concept ID:
C0878544
•
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP, Moiseev S, Suárez-Obando F, Al Ismaili F, Al Khawaja H, Altarescu G, Barreto FC, Haddoum F, Hadipour F, Maksimova I, Kramis M, Nampoothiri S, Nguyen KN, Niu DM, Politei J, Ro LS, Vu Chi D, Chen N, Kutsev S
Mol Genet Genomic Med 2021 May;9(5):e1666. Epub 2021 Apr 9 doi: 10.1002/mgg3.1666. PMID: 33835733Free PMC Article
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220

Recent clinical studies

Etiology

The Italian Fabry Disease Cardiovascular Registry (IFDCR).
Limongelli G, Biagini E, Cappelli F, Graziani F, Monda E, Olivotto I, Parisi V, Pieroni M, Rubino M, Serratore S, Sinagra G, Indolfi C, Perrone Filardi P
Eur Heart J Qual Care Clin Outcomes 2024 Sep 13;10(6):483-487. doi: 10.1093/ehjqcco/qcae052. PMID: 38936829
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D
J Neurol Sci 2024 Feb 15;457:122905. Epub 2024 Jan 24 doi: 10.1016/j.jns.2024.122905. PMID: 38295534
Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Fabry disease: a review.
Masson C, Cissé I, Simon V, Insalaco P, Audran M
Joint Bone Spine 2004 Sep;71(5):381-3. doi: 10.1016/j.jbspin.2003.10.015. PMID: 15474388

Diagnosis

The Italian Fabry Disease Cardiovascular Registry (IFDCR).
Limongelli G, Biagini E, Cappelli F, Graziani F, Monda E, Olivotto I, Parisi V, Pieroni M, Rubino M, Serratore S, Sinagra G, Indolfi C, Perrone Filardi P
Eur Heart J Qual Care Clin Outcomes 2024 Sep 13;10(6):483-487. doi: 10.1093/ehjqcco/qcae052. PMID: 38936829
GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
Li P, Xi Y, Zhang Y, Samad A, Lan W, Wu Y, Zhao J, Chen G, Wu C, Xiong Q
Cells 2024 Mar 1;13(5) doi: 10.3390/cells13050437. PMID: 38474401Free PMC Article
Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN, Dong SS, Zhang SZ, Huang LW, Huang W
BMC Nephrol 2023 Nov 1;24(1):324. doi: 10.1186/s12882-023-03282-3. PMID: 37914990Free PMC Article
Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530

Therapy

Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Hughes D, Gonzalez D, Maegawa G, Bernat JA, Holida M, Giraldo P, Atta MG, Chertkoff R, Alon S, Almon EB, Rocco R, Goker-Alpan O
Genet Med 2023 Dec;25(12):100968. Epub 2023 Aug 24 doi: 10.1016/j.gim.2023.100968. PMID: 37634127
Non-specific gastrointestinal features: Could it be Fabry disease?
Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, Liguori R, Manna R, Politei J, Spada M, Burlina A
Dig Liver Dis 2018 May;50(5):429-437. Epub 2018 Mar 1 doi: 10.1016/j.dld.2018.02.011. PMID: 29602572
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P, Kloska A, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Węgrzyn G, Moskot M, Gabig-Cimińska M, Piotrowska E
Gene 2018 Jan 30;641:259-264. Epub 2017 Oct 25 doi: 10.1016/j.gene.2017.10.064. PMID: 29079200
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012
Anderson-Fabry disease in Austria.
Lorenz M, Hauser AC, Püspök-Schwarz M, Kotanko P, Arias I, Zodl H, Kramar R, Paschke E, Voigtländer T, Sunder-Plassmann G
Wien Klin Wochenschr 2003 Apr 30;115(7-8):235-40. doi: 10.1007/BF03040321. PMID: 12778775

Prognosis

The Italian Fabry Disease Cardiovascular Registry (IFDCR).
Limongelli G, Biagini E, Cappelli F, Graziani F, Monda E, Olivotto I, Parisi V, Pieroni M, Rubino M, Serratore S, Sinagra G, Indolfi C, Perrone Filardi P
Eur Heart J Qual Care Clin Outcomes 2024 Sep 13;10(6):483-487. doi: 10.1093/ehjqcco/qcae052. PMID: 38936829
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D
J Neurol Sci 2024 Feb 15;457:122905. Epub 2024 Jan 24 doi: 10.1016/j.jns.2024.122905. PMID: 38295534
Cardiac MRI of Hereditary Cardiomyopathy.
Fadl SA, Revels JW, Rezai Gharai L, Hanneman K, Dana F, Proffitt EK, Grizzard JD
Radiographics 2022 May-Jun;42(3):625-643. Epub 2022 Mar 11 doi: 10.1148/rg.210147. PMID: 35275782
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Pulmonary arterial hypertension related to connective tissue disease: a review.
Ahmed S, Palevsky HI
Rheum Dis Clin North Am 2014 Feb;40(1):103-24. doi: 10.1016/j.rdc.2013.10.001. PMID: 24268012

Clinical prediction guides

The Italian Fabry Disease Cardiovascular Registry (IFDCR).
Limongelli G, Biagini E, Cappelli F, Graziani F, Monda E, Olivotto I, Parisi V, Pieroni M, Rubino M, Serratore S, Sinagra G, Indolfi C, Perrone Filardi P
Eur Heart J Qual Care Clin Outcomes 2024 Sep 13;10(6):483-487. doi: 10.1093/ehjqcco/qcae052. PMID: 38936829
Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I, Sarti C, Nencini P, Pracucci G, Zedde M, Cianci V, Nucera A, Moller J, Orsucci D, Toni D, Palumbo P, Casella C, Pinto V, Barbarini L, Bella R, Scoditti U, Ragno M, Mezzapesa DM, Tassi R, Volpi G, Diomedi M, Bigliardi G, Cavallini AM, Chiti A, Ricci S, Cecconi E, Linoli G, Sacco S, Rasura M, Giordano A, Bonetti B, Melis M, Cariddi LP, Dossi RC, Grisendi I, Aguglia U, Di Ruzza MR, Melis M, Sbardella E, Vista M, Valenti R, Musolino RF, Passarella B, Direnzo V, Pennisi G, Genovese A, Di Marzio F, Sgobio R, Acampa M, Nannucci S, Dagostino F, Dell'Acqua ML, Cuzzoni MG, Picchioni A, Calchetti B, Notturno F, Di Lisi F, Forlivesi S, Delodovici ML, Buechner SC, Biagini S, Accavone D, Manna R, Morrone A, Inzitari D
J Neurol Sci 2024 Feb 15;457:122905. Epub 2024 Jan 24 doi: 10.1016/j.jns.2024.122905. PMID: 38295534
Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN, Dong SS, Zhang SZ, Huang LW, Huang W
BMC Nephrol 2023 Nov 1;24(1):324. doi: 10.1186/s12882-023-03282-3. PMID: 37914990Free PMC Article
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Hughes D, Gonzalez D, Maegawa G, Bernat JA, Holida M, Giraldo P, Atta MG, Chertkoff R, Alon S, Almon EB, Rocco R, Goker-Alpan O
Genet Med 2023 Dec;25(12):100968. Epub 2023 Aug 24 doi: 10.1016/j.gim.2023.100968. PMID: 37634127
Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?
Hughes DA, Aguiar P, Lidove O, Nicholls K, Nowak A, Thomas M, Torra R, Vujkovac B, West ML, Feriozzi S
Orphanet J Rare Dis 2022 Feb 8;17(1):42. doi: 10.1186/s13023-022-02181-4. PMID: 35135579Free PMC Article

Recent systematic reviews

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE
Int J Cardiol 2014 Dec 15;177(2):400-8. Epub 2014 Sep 20 doi: 10.1016/j.ijcard.2014.09.001. PMID: 25442977

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