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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

Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.
Cianci V, Pascarella A, Manzo L, Gasparini S, Marsico O, Mammì A, Rao CM, Franzutti C, Aguglia U, Ferlazzo E
Metab Brain Dis 2023 Aug;38(6):1905-1912. Epub 2023 Apr 25 doi: 10.1007/s11011-023-01216-4. PMID: 37097439Free 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
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
Cardiac challenges in patients with Fabry disease.
Weidemann F, Linhart A, Monserrat L, Strotmann J
Int J Cardiol 2010 May 14;141(1):3-10. Epub 2009 Aug 31 doi: 10.1016/j.ijcard.2009.08.002. PMID: 19720409
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

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.
Valtola K, Hedman M, Kantola I, Walls S, Helisalmi S, Maria M, Raivo J, Auray-Blais C, Kuusisto J
Open Heart 2023 Mar;10(1) doi: 10.1136/openhrt-2023-002251. PMID: 36927868Free 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
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
Cardiac challenges in patients with Fabry disease.
Weidemann F, Linhart A, Monserrat L, Strotmann J
Int J Cardiol 2010 May 14;141(1):3-10. Epub 2009 Aug 31 doi: 10.1016/j.ijcard.2009.08.002. PMID: 19720409

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
Fabry disease: enzyme replacement therapy.
Bongiorno MR, Pistone G, Aricò M
J Eur Acad Dermatol Venereol 2003 Nov;17(6):676-9. doi: 10.1046/j.1468-3083.2003.00831.x. PMID: 14761135

Prognosis

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
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
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.
El Sayed M, Hirsch A, Boekholdt M, van Dussen L, Datema M, Hollak C, Langeveld M
Heart 2021 Dec;107(23):1889-1897. Epub 2021 Feb 10 doi: 10.1136/heartjnl-2020-317922. PMID: 33568430Free 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
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

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
The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.
Sánchez R, Ripoll-Vera T, López-Mendoza M, de Juan-Ribera J, Gimeno JR, Hermida Á, Ruz-Zafra MA, Torregrosa JV, Mora A, García-Pinilla JM, Fortuny E, Aguinaga-Barrilero A, Torra R
Orphanet J Rare Dis 2023 Jan 9;18(1):8. doi: 10.1186/s13023-022-02599-w. PMID: 36624527Free PMC Article
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
Prevalence and Clinical Characteristics of Fabry Disease in Chinese Patients With Hypertrophic Cardiomyopathy.
Xiao Y, Sun Y, Tian T, Wang TJ, Zhao RX, Zhang Y, Wang LP, Liu YX, Lu CX, Zhou XL, Yang WX
Am J Med Sci 2021 Sep;362(3):260-267. Epub 2021 Jan 14 doi: 10.1016/j.amjms.2021.01.009. PMID: 34266644
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

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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