Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry

Politei, Juan; Cabrera, Gustavo; Amartino, Hernán; Valdez, Rita; Masllorens, Francisca; Ripeau, Diego; Antongiovanni, Norberto; Soliani, Andrea; Luna, Paula Carolina; Cedrolla, M.; Fernandez, S.; Fainboim, Alejandro

doi:10.1111/ijcp.12081

Cited by 4 publications

(6 citation statements)

References 24 publications

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“…When comparing the mutations present in the Colombian population with the mutation profile identified in other Latin American countries (Argentina, Mexico and Brazil) (Politei et al, 2013;Ramos-Kuri et al, 2014;Rozenfeld et al, 2006) and Spain (Pereira et al, 2007;Turaça et al, 2012;Rodríguez-Marí et al, 2003) no association is found. This is probably a consequence of the limited sample size analyzed in most of the previous studies that evaluate the mutation profile, such as Argentinean and Mexican studies.…”

Section: Discussionmentioning

confidence: 96%

Identification of mutations in Colombian patients affected with Fabry disease

Uribe

Mateus

Prieto

et al. 2015

Gene

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Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions.

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Section: Discussionmentioning

confidence: 96%

Identification of mutations in Colombian patients affected with Fabry disease

Uribe

Mateus

Prieto

et al. 2015

Gene

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“…The many different debilitating symptoms of FD demand a multidisciplinary evaluation that involves the primary caregiver, as well as experienced nephrologists, cardiologists, dermatologists, and neurologists. 1,52 -54…”

Section: Treatmentmentioning

confidence: 99%

Dermatologic Aspects of Fabry Disease

Luna

Boggio

Larralde

2016

Journal of Inborn Errors of Metabolism and Screening

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Isolated angiokeratomas (AKs) are common cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse AKs should alert the physician to a possible diagnosis of Fabry disease (FD). Angiokeratomas often do not appear until adolescence or young adulthood. The number of lesions and the extension over the body increase progressively with time, so that generalization and mucosal involvement are frequent. Although rare, FD remains an important diagnosis to consider in patients with AKs, with or without familial history. Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or heat intolerance. Once the diagnosis is established, prompt screening of family members should be performed. In all cases, a multidisciplinary team is necessary for the long-term follow-up and treatment.

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“…Fabry disease is caused by reduced or absent activity of the hydrolase α-galactosidase A (αGAL) enzyme due to mutations in the gene encoding the αGAL protein (GAL). 7 -10 Patients with FD are not able to catabolize the membrane neutral glycosphingolipids having galactose α-glycosidic terminal, especially globotriaosylceramide (GL-3; also abbreviated as Gb3) and the deacylated GL-3 (lyso-globotriaosylceramide [lyso-GL3]), which therefore accumulates mainly in the heart, skin, kidneys, blood vessels, peripheral nerves, and central nervous system. In the heart, the GL-3 deposits occur in cardiomyocytes, conduction system cells, valve fibroblasts, and endothelial cells of the different types of blood vessels.…”

Section: Pathophysiologymentioning

confidence: 99%

“…[7][8][9] Heterozygous females may be affected and can express phenotype of FD ranging from asymptomatic to major involvement of different organs, and the worsening of the disease usually occurs later in life than in men. [7][8][9][10] However, the clinical diagnosis of FD can sometimes be difficult, as most of the signs and symptoms resemble those of other common diseases. 3 The most common detection method is the measurement of the aGAL activity in dried blood on filter paper (DBS).…”

Section: Clinical Presentation and Confirmation Of The Diseasementioning

confidence: 99%

“…1 -6 Although FD was originally considered as an X-linked recessive disorder, we now know that heterozygous females may be severely affected, is a relatively common cause of HCM, and is associated with significant morbidity and premature death due to heart failure or sudden cardiac death (SCD). 7 -10 Although the prevalence of FD in patients with HCM is estimated between 0% and 6%, recent studies including more patients showed a prevalence of 0.5% to 1%. 11 -17 However, given that the development of left ventricular hypertrophy (LVH) in FD is progressive, we must find cardiac manifestation of FD even in patients who do not still have LVH.…”

Section: Introductionmentioning

confidence: 99%

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Cardiac Manifestation of Fabry Disease

Fernández

Politei

2016

Journal of Inborn Errors of Metabolism and Screening

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Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT). Fabry patients without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in Fabry disease, regardless of the indication for ERT.

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Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry

Cited by 4 publications

References 24 publications

Identification of mutations in Colombian patients affected with Fabry disease

Identification of mutations in Colombian patients affected with Fabry disease

Dermatologic Aspects of Fabry Disease

Cardiac Manifestation of Fabry Disease

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