Perfil epidemiológico e clínico de pacientes com Doença de Fabry / Epidemiological and clinical profile of patients with Fabry Disease

Objetivo: 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: devese 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.(AU)

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.(AU)

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.(AU)

[Home-based infusion therapy--a feasible approach for chronically ill patients? A new path to provide superior patient care exemplified for Fabry's disease]. / Infusionsbehandlung in häuslicher Umgebung--ein praktikabler Ansatz für chronisch Kranke? Neue Wege der Versorgung am Beispiel des Morbus Fabry.

BACKGROUND: As there are scarce data from Germany addressing home-based infusion therapy in chronically ill patients, a study on transferring infusion therapy from in-patient-treatment to home care, exemplified for Fabry's disease, was conducted. METHODS: A total of 69 patients on enzyme replacement infusion therapy (ERT with agalsidase alfa every two weeks) were enrolled in the open, non-controlled, multicentre, non-interventional observational study. After uneventful ERT in a hospital setting, intravenous treatment was administered at home by a specially-trained nurse. Primary outcome measure was change in patient satisfaction measured by an eleven-item Likert scale. RESULTS: The in-home observation period lasted between 96 und 401 days (median 180; IQR 166-184). Patient satisfaction increased significantly with home-based therapy (p = 0.001). A quality of life analysis (SF-36) demonstrated significant improvements in role-physical (p = 0.003), bodily pain (p = 0.032), vitality (p < 0.001), social functioning (p = 0.020), role-emotional (p = 0.007), mental well-being (p = 0.007) and mental sum score (p = 0.002). Home infusions turned out to be safe and were well tolerated. CONCLUSION: Chronically ill patients with need for regular infusion therapy may benefit from a home care setting. Home-based infusion therapy as exemplified by agalsidase alfa ERT in Fabry's disease is a viable option for patients who received uneventful infusions within the hospital.

Brain MRI findings in patients with Fabry disease.

BACKGROUND: To evaluate the presence of ischemic and hemorrhagic lesions in brain MRI of patients with Fabry disease (FD). METHODS: Brain MRI studies in 46 consecutive patients were evaluated using classic sequences as well as GRE-weighted images, for ischemic lesions and chronic microbleed detection. Of the 36 adult patients (15 males, mean age 31.2 years; 21 females, mean age 41.6 years). All had signs or symptoms of FD but lacked history of stroke or TIA. RESULTS: Ten patients under 20 years of age initially presented a normal MRI. One child developed a hyperintense occipital lesion on T2-weighted imaging during control MRI. Sixteen adult patients (44.4%) had brain MRI evidence of small vessel disease in the basal ganglia, corona radiata, thalamus or brainstem, as well as in the periventricular white matter. Patients with MRI abnormalities were older (45.6 vs 30.9 years, p=0.005), with more vascular risk factors (1.2 vs 0.6 p=0.043). Three women (mean age 59.5 years) presented deep chronic microbleeds identified by GRE. Moreover, Flair and T2-weighted images revealed white matter disease and deep gray matter involvement. CONCLUSION: 44.4% of adult patients with FD without clinical history of CVA or prior dialysis had evidence of small vessel disease on MRI and 11% showed cerebral microbleeds. FD is a treatable disorder that should be routinely included in the differential diagnosis of ischemic and microhemorrhagic lesions in young adults.

Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry.

The proportion of centres returning the ERA-EDTA Registry questionnaires has decreased considerably in recent years. Demographic information, based on the response rate of centres in 1994 (44%), does not allow reasonable projections for management of renal failure in Europe. To encourage the participation of non-responding centres, the timing was right to show the powerful impact of the ERA-EDTA Registry as a supra-national registry, by studying patients in renal replacement therapy (RRT) suffering from rare diseases. Four such diseases, Fabry's disease, nephropathy due to cyclosporin (CsA), nephropathy due to cisplatin and scleroderma, were studied using the records of 440665 patients on file up to 31 December 1993. There were 83 patients with Fabry's disease (0.0188%), 85 patients with CsA nephropathy (0.0193%), 120 patients with cisplatin nephropathy (0.0272%) and 625 patients with scleroderma (0.142%). Scleroderma was introduced as a primary renal disease (PRD) in the ERA-EDTA Registry in 1977. Seven patients were accepted for RRT in that year, whereas the number increased to over 50 new patients per year after 1986. More than half of the patients were aged over 55 years, and 68% of them were women. Survival rate of dialysis patients suffering from scleroderma was 22% at 5 years, compared to 51% in patients with standard primary renal diseases. The main causes of death were cardiovascular complications (41%), cachexia (15%) and infection (10%). Survival of first graft in a small number of 28 patients was 44% at 3 years, compared to 60% in standard PRD. Patient survival after first transplant, however, was higher by 32% at 3 years compared to that of dialysis patients. Cisplatin nephropathy was introduced as a PRD in the ERA-EDTA Registry in 1985, and since then six to 19 new patients have been accepted for RRT each year. The main reason for undergoing cisplatin treatment was ovarian (32%) and testicular cancer (21%), and the mean interval from treatment to RRT was 21.5 months, ranging widely from 0.1 to 131 months. Patient survival on dialysis was 22% at 5 years, compared to 51% in patients with standard PRD. Malignancy and cachexia accounted for over 60% of the total number of deaths. CsA nephropathy was introduced as a PRD in the ERA-EDTA Registry in 1985 and, despite its rarity, is of particular interest as a new iatrogenic entity resulting from CsA administration, mainly in solid organ transplantation. In 1985, two new patients commenced RRT in Europe, and the number increased to 59 in 1991-93. The main reason for undergoing CsA treatment was heart (68%) and liver transplant (22%), and the mean interval from treatment to RRT was 50.2 months, ranging from 5 to 90 months. Patient survival on dialysis was 46% at 4 years, compared to 58% in patients with standard primary nephropathies. Cardiovascular causes (48%) and infection (17%) were the main causes of death. Fabry's disease was introduced as a PRD in the ERA-EDTA Registry in 1985, and since the four to 13 new patients per year have commenced RRT in Europe. It is a sex-linked recessive disorder primarily affecting males (87%), and the mean age at start of RRT was 38 years. Proteinuria, skin lesions and painful paresthesiae were the most common presenting symptoms, and over 70% of the patients were hypertensive and had significant cardiovascular problems at RRT. Patient survival on dialysis was 41% at 5 years, compared to 68% in patients with standard primary nephropathies. Cardiovascular complications (48%) and cachexia (17%) were the main causes of death. Graft survival at 3 years in 33 patients was not inferior to that of patients with standard nephropathies (72% vs 69%), and patient survival after transplantation was comparable to that of patients under 55 years of age with standard PRD. (ABSTRACT TRUNCATED)