ABSTRACT
BACKGROUND: Bone involvement in type 1 Gaucher"s disease can be devastating and is oftenly silent. Bone MR is generally recommended. The aim of the study was to elucidate whether the size and location of hospitals in Spain implies any difference in management of GD patients. MATERIAL AND METHODS: We surveyed the type of facilities in the hospital (namely MRI) as well as for the presence, type, severity and methodology of follow-up of bone involvement associated to GD, according to the category of hospital (local or reference). RESULTS: 31 patients were followed in reference hospitals whereas 16 other were in local hospitals. 70% of cases had some type of bone involvement, 60% had severe bone disease. MRI was the first choice for diagnosis in 65% and for follow-up in 93% of cases. MRI is less indicated among patients from local hospitals. Chitotriosidase is measured in a high, but insufficient, proportion of the followed patients (60%). CONCLUSIONS: The Spanish hospital network, either reference or local hospitals, have an adequate infrastructure for the management of GD patients. However, main diagnostic resources are being currently underused.
Subject(s)
Bone Diseases, Metabolic/diagnosis , Gaucher Disease/diagnosis , Bone Diseases, Metabolic/etiology , Bone Diseases, Metabolic/therapy , Female , Follow-Up Studies , Gaucher Disease/complications , Gaucher Disease/therapy , Humans , Magnetic Resonance Imaging , Male , Quality of Health Care , Spain/epidemiology , Surveys and QuestionnairesABSTRACT
Introducción: La afectación ósea de la enfermedad de Gaucher (EG) tipo 1 es invalidante y silente, para su diagnóstico debe realizarse resonancia magnética (RM) sistemáticamente. El objetivo del estudio fue saber si el tipo de hospital implica diferencias en el uso de medios diagnósticos en la EG. Material y métodos: Se analizan los recursos diagnósticos disponibles y su empleo en la afectación ósea según el tipo de hospital. Resultados: Treinta y un pacientes de hospitales de referencia y 16 de comarcales. El 70 por ciento de los casos presentaban afectación ósea (formas graves el 60 por ciento). La RM se empleó en el diagnóstico inicial (65 por ciento), y el seguimiento (93 por ciento) especialmente en hospitales de referencia. La determinación de quitotriosidasa se emplea el 60 por ciento de los casos en seguimiento. Conclusiones: La red de hospitales públicos españoles está suficientemente dotada para la atención de pacientes con EG en todos sus niveles asistenciales, aunque se infrautilizan los recursos disponibles (AU)
Subject(s)
Male , Female , Humans , Spain , Quality of Health Care , Surveys and Questionnaires , Bone Diseases, Metabolic , Magnetic Resonance Imaging , Follow-Up Studies , Gaucher DiseaseABSTRACT
BACKGROUND: The poor phenotype/genotype correlation in Gaucher's disease makes difficult therapy-decision-making and prevention of complications. Gaucher's cells and tissue fibrosis are the earliest findings of the disease. Transforming growth factor ss (TGF-beta1) is the key cytokine involved in the regulation of tissular scarring and fibrosis. The aim of the study was to ascertain if there are differences in plasma TGF-beta1 between Gaucher's disease patients, carriers and non-carriers healthy people and whether there is any correlation between plasma TGF-beta1 and clinical phenotype among patients. PATIENTS AND METHOD: Plasma TGF-beta1 was measured in 11 patients with Gaucher's disease, 12 carriers and 10 healthy people. Patients were further evaluated to know their liver and spleen size, bone involvement, hemoglobin, leukocyte and platelet count and the Zimran's severity score index (SSI). Plasma concentration of TGF-beta1 was determined by RIA phenotypic sandwich antibodies assay and quantified by a colorimetric procedure. Sensitivity was 25 pg/ml and specificity (cross reactivity) < 5% with beta2-TGF and beta3-TGF. STATISTICS: ANOVA and T-test were applied for mean comparisons and subgroup analyses. RESULTS: Plasma TGF-beta1 values were increased in Gaucher's disease patients (98.4 [91.4] pg/ml) over carriers (47.2 [21,7] pg/ml; p = 0.04) and healthy relatives (40.8 [9.8] pg/ml; p = 0.02). No differences in patients subgroups, with regard to SSI or bone involvement, were observed. CONCLUSIONS: Plasma TGF-beta1 levels are increased in this group of patients with Gaucher's disease. Since there is no correlation between the plasma values and the phenotypic expression, TGF-beta1 could merely be a marker of macrophage activation.
Subject(s)
Gaucher Disease/blood , Transforming Growth Factor beta/blood , Adolescent , Adult , Biomarkers/blood , Carrier State , Case-Control Studies , Female , Humans , Male , Middle AgedSubject(s)
Immunologic Deficiency Syndromes , Adult , Antibody Formation , Autoimmune Diseases/complications , Bone Marrow Transplantation/adverse effects , Child , Humans , Immunity, Cellular , Immunization, Passive , Immunoglobulins, Intravenous/therapeutic use , Immunologic Deficiency Syndromes/classification , Immunologic Deficiency Syndromes/etiology , Immunologic Deficiency Syndromes/immunology , Immunologic Deficiency Syndromes/therapy , Immunosuppression Therapy/adverse effects , Infant, Newborn , Lymphoproliferative Disorders/complications , Transplantation/adverse effects , Virus Diseases/complicationsABSTRACT
OBJECTIVE: To report the results obtained with the application of alpha-IFN for the treatment of a small group of patients diagnosed of systemic mastocytosis (SM) in the setting of a general hospital. PATIENTS AND METHODS: Six patients out of a group of 14 with the diagnosis of MS were prospectively selected from January 1991 to December 1996. Two patients had aggressive variant with lymph node involvement and eosinophilia and the other four had severe and repeated crises through release of mediators not controlled under symptomatic therapy. All patients received alpha-2b-IFN with gradual doses until a mean dose of 9 MU/week was obtained, associated with anti-H1 and anti-H2 antithistaminic agents and ketotiphen. Monthly clinical and analytical studies were performed until stabilization of the clinical picture and histamine metabolite measurements in urine every 6 months and histologic evolution of bone marrow every 12 months. RESULTS: Mean age at diagnosis was 41 years (range: 26-28), M/F ratio 3/3, mean evolution time 50.5 months and mean time under therapy with alpha-IFN 15.6 months (range: 3-26). Six months after therapy was initiated a decrease in the frequency and severity of crises through release of mediators and a slight improvement in cutaneous lesions, resolution of liver enlargement and ascites were observed. Treatment tolerance was quite acceptable and dose reduction was required in only two cases. Bone marrow assessment at one year showed a similar involvement, with decrease in the number of paratrabecullar nodules. CONCLUSIONS: The efficacy of alpha-2b-IFN therapy in SM is not clearly established, although the results obtained in this study seem encouraging. To obtain valid conclusions, a larger number of patients with similar characteristics and a longer follow-up with uniform assessment criteria are required.
Subject(s)
Interferon-alpha/therapeutic use , Mastocytosis/drug therapy , Adult , Aged , Female , Humans , Male , Mastocytosis/complications , Mastocytosis/pathology , Middle AgedABSTRACT
BACKGROUND: Aging probably comprises one of the major factors contributing to the onset of acquired primary blood diseases (APBD's) most of which are of a chronic type. The purpose of this study is to analyze the rate of occurrence (RO) of HPA in a population of 522,621 inhabitants (Males: 252,721; Females: 269,900) showing a negative vegetative growth (-1.4/10(5) inhabitants/year), said occurrence being dealt with separately for the population under age 60 and the population over age 60. METHODS: In January-December, 1994, a estimate was made of the HPA rate of occurrence and rate of analyses among the patients from the area in question, dealing separately with those under age 60 and over age 60. The diagnostic criteria applied were Monoclonal Gammopathies of Undetermined Significance (MGUS's) in keeping with Kyle's criteria. Multiple Myeloma (MM) and Chronic Lymphatic Leukemia (CLL) in keeping with the Myeloma Task Force criteria. Non-Hodgkin's Lymphoma (NHL) and Hodgkin's Disease (HD) in keeping with the REAL classification, Myelodisplasic Syndromes (MS's) and Acute Leukemia (AL) in keeping with the FAB classification, Chronic Myeloproliferative Syndromes (CMS's) in keeping with the PVSG. For calculating the rates of occurrence, descriptive epidemiological methods were used. RESULTS: The highest rates of blood analyses as the result of suspected APH's fell within the over 60 age group (p < 0.0001). During the length of time analyzed, a total of 302 APH's (< 60/> or = years: 100/202, p < 0.0001) were diagnosis, being worthy of special mention: 84 MGUS's; 21 MM's; 57 NHL's; 26 CLL's; 33 CMS's; 11 AL's and 14 HD's. The spread by gender was: Males: 177; Females 125. Average age: 63.54 years (age range 19-92). The rates of occurrence (cases/10(5) inhabitants/year) were (< age 60/> or = age 60): overall: 31.31/178.86; MGUS: 7.37/52.87; MM: 1.84/13.21; NHL: 5.53/34.36; CLL: 1.53/18.50; MS: 0.62/27.31; CMS: 5.52/16.74; AL: 1.53/5.29; HD: 3.68/1.76. CONCLUSIONS: The highest rate of analyses as the result of suspected APH was found among those over 60 years of age. The overall occurrence of APH is significantly higher in those over age 60, as well as for each type of APH taken into account, except for AL and HD. The highest rate of occurrence is that of MGUS, NHL and MS's, especially in males.
Subject(s)
Aging , Hematologic Diseases/epidemiology , Aged , Female , Hodgkin Disease/epidemiology , Humans , Incidence , Leukemia, Lymphocytic, Chronic, B-Cell/epidemiology , Lymphoma, Non-Hodgkin/epidemiology , Male , Middle Aged , Multiple Myeloma/epidemiology , Spain/epidemiologyABSTRACT
The development in the past few years of laboratory test for hepatitis C virus allow us to associate it with a broad range of autoimmune manifestations such as cryoglobulinemia and Sjögren syndrome. As in other virus' infections, rheumatic manifestations have been described during VHC infection, but there are no large studies enough to know their true frequency and characteristic. The three reported patients in this issue presented and HCV related arthropathy once clinical picture, laboratory test and following, allowed us to exclude other diagnostics. Clinical manifestations ranged from arthralgias and intermittent arthritis to symmetric polyarthritis without any kind of join damage.
