Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

Wagner, Martin; Krämer, Johannes; Blohm, Elisabeth; Vergho, Dorothee; Weidemann, Frank; Breunig, Frank; Wanner, Christoph

doi:10.1186/1471-2369-15-188

Cited by 15 publications

(23 citation statements)

References 24 publications

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“…Median PCS scores were 49.8 (eGFR >60), 35.9 (eGFR <60) and 29.4 (RRT). The MCS scores were 47.1 (eGFR >60), 49.8 (eGFR <60) and 30.1 (RRT) [ 58 ]. Others have shown a negative correlation between MSSI (Mainz Severity Score Index) scores and QoL [ 39 , 55 ], which was supported by Rombach et al who defined four disease states; asymptomatic, acroparasthesia/symptomatic, single complication and multiple complications, and found lower EQ-5D utility scores with more severe disease (0.87, 0.76, 0.74, and 0.58 per state, respectively) [ 59 ].…”

Section: Resultsmentioning

confidence: 99%

Quality of life in patients with Fabry disease: a systematic review of the literature

Arends

Hollak

Biegstraaten

2015

Orphanet J Rare Dis

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Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose of this literature review is to analyse the currently available data concerning QoL measurement, specifically which questionnaires have been used to measure QoL, how patients with FD score compared to the general population, and the effects of enzyme replacement therapy (ERT) on QoL. Fifty-four articles were relevant for this literature review. Patients with FD had a lower QoL compared to the general population. No definite conclusions could be drawn from the studies on the effect of ERT on QoL; natural history data is scarce, changes observed were limited and the cohorts were of small size. We propose that a FD specific questionnaire be made to accurately assess QoL in patients with FD.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0296-8) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Quality of life in patients with Fabry disease: a systematic review of the literature

Arends

Hollak

Biegstraaten

2015

Orphanet J Rare Dis

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“…Rare diseases are generally characterized by the involvement of a disease affecting a small part of the population, and it is estimated that there are around 7000 rare diseases worldwide and that around 80% of them are of genetic origin. [1][2] According to the World Health Organization (WHO), for a disease to be considered rare, it is necessary to have an incidence of 65 cases per 100 thousand inhabitants. 2 One asks, in this context, how to quantify and categorize a disease, if there are no national epidemiological studies to know the reality of these cases?…”

Section: Introductionmentioning

confidence: 99%

“…[1][2] According to the World Health Organization (WHO), for a disease to be considered rare, it is necessary to have an incidence of 65 cases per 100 thousand inhabitants. 2 One asks, in this context, how to quantify and categorize a disease, if there are no national epidemiological studies to know the reality of these cases?…”

Section: Introductionmentioning

confidence: 99%

Epidemiological and clinical profile of patients with fabry disease

Aquino

Vargas

Lopes

et al. 2019

Rev enferm UFPE on line.

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Objective: to analyze the epidemiological, clinical and therapeutic profile of patients with Fabry disease, with emphasis on family care. Method: this is a quantitative, epidemiological, cross-sectional study. A large mining town and a university hospital will be listed as scenarios. The study will be based in phases and, at the first moment, will be analyzed the patients who follow the outpatient clinic. In a second moment, using a database and the application of questionnaires, a comparative study with two groups, one with manifestations of symptoms and in treatment of the disease and another group asymptomatic and without treatment will be carried out. Questions about family history, feeding and hydration, sleep / rest, eliminations (urinary and intestinal), medical history of the consultation, presence of signs and symptoms, date of diagnosis, allergies, regimen of treatment, complaints, among other variables present. Expected results: the results of the research should contribute to the identification of fragilities, difficulties and possible solutions, allowing the dissemination of data and findings in scientific compliance, besides revealing the prevalence of the cases, making them statistically visible. Descriptors: Rare Diseases; Fabry Disease; Clinical Evolution; Kidney; Family; Kidney Diseases.RESUMOObjetivo: analisar o perfil epidemiológico, clínico e terapêutico de pacientes com Doença de Fabry, com ênfase na atenção à família. Método: trata-se de um estudo quantitativo, epidemiológico, tipo transversal. Elencar-se-ão, como cenários, uma cidade mineira de grande porte e um hospital universitário. Fundamentar-se-á o estudo em fases e, no primeiro momento, serão analisados os pacientes que fazem acompanhamento ambulatorial. Realizar-se-á, em um segundo momento, utilizando um banco de dados e a aplicação de questionários, um estudo comparativo com dois grupos, um com manifestações de sintomas e em tratamento da doença e outro grupo assintomático e sem tratamento. Levantar-se-ão, nas partes clínica e terapêutica, questões dos antecedentes familiares, alimentação e hidratação, sono/repouso, eliminações (urinária e intestinal), histórico médico da consulta, presença de sinais e sintomas, data do diagnóstico, alergias, regime de tratamento, queixas, dentre outras variáveis presentes. Resultados esperados: deve-se contribuir, pelos resultados da pesquisa, para a identificação de fragilidades, dificuldades e possíveis soluções, possibilitando a divulgação dos dados e achados em conformidade científica, além de permitir revelar a prevalência dos casos, tornando-os visíveis, estatisticamente. Descritores: Doenças Raras; Doença de Fabry; Evolução Clínica; Rim; Família; Doença Renal.RESUMEN Objetivo: analizar el perfil epidemiológico, clínico y terapéutico de pacientes con enfermedad de Fabry, con énfasis en la atención a la familia. Método: se trata de un estudio cuantitativo, epidemiológico, tipo transversal. Se enumerarán, como escenarios, una ciudad minera de gran porte y un hospital universitario. Se fundamentará el estudio en fases y, en el primer momento, serán analizados los pacientes que realizan seguimiento ambulatorio. Se realizará en un segundo momento utilizando un banco de datos y la aplicación de cuestionarios, un estudio comparativo con dos grupos, uno con manifestaciones de síntomas y en tratamiento de la enfermedad y otro grupo asintomático y sin tratamiento. En las partes clínicas y terapéuticas, se plantean, en las partes clínica y terapéutica, cuestiones de antecedentes familiares, alimentación e hidratación, sueño/reposo, eliminaciones (urinaria e intestinal), historial médico de la consulta, presencia de signos y síntomas, fecha del diagnóstico, alergias, régimen de tratamiento, quejas, entre otras variables presentes. Resultados esperados: se deben contribuir, por los resultados de la investigación, para la identificación de fragilidades, dificultades y posibles soluciones, posibilitando la divulgación de los datos y hallazgos en conformidad científica, además de permitir revelar la prevalencia de los casos, haciéndolos visibles, estadísticamente. Descriptores: Enfermedades Raras; Enfermedad de Fabry; Evolución Clínica; Riñón; Familia; Enfermedades Renales

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“…The scientific literature offers several theoretical factors that could contribute to decreased fitness in males with FD including: mechanical blockage of the vas deferens due to glycolipid storage, autonomic dysfunction, reduced life expectancy, depression and decreased social adaptive functioning, or personal choice Wagner et al 2014;Arends et al 2015;Germain et al 2015;Waldek et al 2009). In order to provide accurate genetic counseling about their reproductive fitness to individuals affected by FD, we conducted a multi-center, large scale study to determine if reproductive fitness is decreased in males with FD and, if so, delineate specific risk factors or issues related to decreased fitness.…”

Section: Introductionmentioning

confidence: 99%

The Impact of Fabry Disease on Reproductive Fitness

et al. 2017

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Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.

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Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease

Cited by 15 publications

References 24 publications

Quality of life in patients with Fabry disease: a systematic review of the literature

Quality of life in patients with Fabry disease: a systematic review of the literature

Epidemiological and clinical profile of patients with fabry disease

The Impact of Fabry Disease on Reproductive Fitness

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