[Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads]. / Enfermedad de Fabry asociada a artritis reumatoide. Una encrucijada multisistémica.

Fabry's disease is a rare congenic disorder of glycosphingolipid catabolism resulting from deficient activity of the alpha galactosidasa. Is an X-linked disorder and in hemizygous males the activity of this enzyme is very low, resulting in severe manifestations. Fabry disease is confirmed by the lack alfa-galactosidase in serum. In the literature have been reported a few cases of coexistent Fabry's disease and connective disorders, but there is not cases of rheumatoid arthritis coexistent. This report describes a case of a female with Fabry's disease who vas subsequently diagnosed with rheumatoid arthritis. The suspect diagnosis was very important because the two disorders are multisystem and new symptoms could be attributed to Fabry's disease. The accumulation of lipids may results in numerous pathogenic autoantibodies, which could make immunocomplex. This is the potential pathogenic mechanisms explaining the association between Fabry's disease and autoimmune diseases.

Enfermedad de Fabry asociada a artritis reumatoide. Una encrucijada multisistémica / Fabry's disease associated with rheumatoid arthritis. A multisystem crossroad

La enfermedad de Fabry es una alteración congénita poco frecuente, del metabolismo de los glucoesfingolípidos, en la cual existe un déficit de la enzima alfa galactosidasa A. Se trasmite de modo recesivo ligada al X por lo que las manifestaciones clínicas son más severas en varones hemicigóticos. El diagnóstico se lleva a cabo mediante la determinación de los niveles del enzima alfa-galactosidasa. En la literatura se han descrito varios casos de enfermedad de Fabry asociada a enfermedades del tejido conectivo, pero no se ha encontrado ningún caso coexistiendo con artritis reumatoide. Presentamos un caso de una paciente con enfermedad de Fabry que, posteriormente se diagnosticó de artritis reumatoide. El diagnóstico de sospecha fue fundamental ya que el carácter multisistémico de las manifestaciones clínicas de ambas enfermedades hace que sea difícil no atribuir nuevos signos a la enfermedad de Fabry. El acúmulo de lípidos provoca un estímulo antigénico prolongado que es capaz de formar inmunocomplejos. Esta es la hipótesis patogénica por la que creemos que la enfermedad de Fabry se asocia a enfermedades autoinmunes (AU)

Local and remote sustained trigger point therapy for exacerbations of chronic low back pain. A randomized, double-blind, controlled, multicenter trial.

STUDY DESIGN: A randomized, double-blind, controlled, multicenter trial was conducted. OBJECTIVES: To assess the efficacy of neuroreflexotherapy in the management of low back pain. SUMMARY AND BACKGROUND DATA: Neuroreflexotherapy consists of temporary implantation of epidermal devices in trigger points in the back and referred tender points in the ear. METHODS: The rheumatology and rehabilitation departments of three teaching hospitals in Madrid recruited 78 patients with chronic low back pain. These patients were randomly assigned to the control group (37 patients) or to the treatment group (41 patients). Patients in the treatment group underwent one neuroreflexotherapeutic intervention. The control group received sham treatment consisting of placement of the same number of epidermal devices within a 5-cm radius of the target zones. Patients from both groups were allowed to continue drug treatment as previously prescribed. The use of medications during the trial was recorded. RESULTS: Patients underwent clinical evaluations on three occasions: within 5 minutes before intervention, within 5 minutes after intervention, and 45 days later. The preintervention assessment was carried out by the physician from each hospital department who included the patient in the study. Each of the two follow-up assessments were carried out independently by two of three physicians who had no connection with the research team. Patients in the treatment group showed immediate lessening of pain compared with the results in patients in the control group. The pain relief was clinically relevant and statistically significant, and it persisted up to the end of the trial. CONCLUSIONS: Neuroreflexotherapy intervention seems to be a simple and effective treatment for rapid amelioration of pain episodes in patients with chronic low back pain. At this time, the duration of pain relief beyond 45 days has not been evaluated.

Hydrocephalus and secondary syndrome of inappropriate antidiuretic hormone due to rheumatoid vertical atlantoaxial subluxation.

We describe symptomatic hydrocephalus and secondary syndrome of inappropriate antidiuretic hormone as clinical manifestations of vertical atlantoaxial subluxation in a patient with severe rheumatoid arthritis. We found no reports of this association as a complication of rheumatoid cervical involvement. We discuss the difficulties of differential diagnosis and treatment in this patient.

Purine metabolism in women with primary gout.

PURPOSE: Uncontrolled studies have shown that women with gout have higher serum urate concentrations and similar or lower urinary uric acid excretion rates than do men with gout. These observations suggest a more defective tubular transport of uric acid in women than in men with gout. In this prospective study we assessed purine metabolism in women with primary gout under controlled conditions. We also examined whether there are sex-related differences in plasma and urinary purine concentrations among patients with primary gout. SUBJECTS AND METHODS: Ten women with crystal-proved primary gout and normal serum creatinine levels (below 116 mmol/L) were studied while they were on a purine-restricted diet and taking no medications known to influence uric acid metabolism. For comparison, 20 men with primary gout and 10 women without gout, matched for age, race, and body mass index, were studied under the same conditions. In each subject, plasma and 24-hour urinary uric acid, hypoxanthine, and xanthine concentrations were measured. The mean of three consecutive determinations for plasma purines and five for urinary purines was used. Standard formulas were used to calculate the renal clearances and the fractional excretion of purines. RESULTS: Mean plasma urate, hypoxanthine, and xanthine levels were significantly higher in women patients with primary gout compared with normal women (P < 0.05). Mean 24-hour urinary uric acid excretion was similar in both groups. Daily urinary hypoxanthine and xanthine excretion rates were significantly lower in gouty women patients than in control women (P < 0.05). The renal clearances and the fractional excretion of uric acid, hypoxanthine, and xanthine were markedly lower in women with primary gout than in control women (P < 0.05). Plasma and urinary purine concentrations were similarly increased and diminished, respectively, in women and men patients with primary gout. Plasma urate, hypoxanthine, and xanthine levels were inversely and significantly associated with the fractional excretion of uric acid (r = -0.520; P = 0.003), hypoxanthine (r = -0.555; P = 0.002), and xanthine (r = -0.384; P = 0.040), respectively. CONCLUSION: Women with primary gout have markedly diminished uric acid, hypoxanthine, and xanthine excretion rates. The disturbance of purine metabolism appears to be of a similar magnitude to that observed in gouty men. The absence of significant sex-related differences in plasma and urinary purine concentrations suggests a similar tubular dysfunction for purine excretion in women and men with primary gout.

Female gout. Clinical spectrum and uric acid metabolism.

We reviewed the clinical features and uric acid metabolism in 37 female patients with gout. In 32 female patients (86%), gout was diagnosed after menopause. Among the five premenopausal patients, four had renal insufficiency and one had superactivity of phosphoribosylpyrophosphate synthetase. More than 50% of the female patients had osteoarthritis, hypertension, or renal insufficiency or were treated with diuretics. Comparison with 220 male patients with gout showed that female patients developed gout significantly later, more frequently had associated diseases, and more often were receiving diuretics, whereas significantly more male than female patients had alcoholism. The articular features of gout were similar in both groups. However, the prevalence of tophi was higher and its localization different in female than in male patients. Female patients with gout had a higher mean serum urate concentration and a lower mean urinary uric acid excretion than did male patients with gout. These differences were significant and independent of the effects of age, renal insufficiency, alcoholism, or previous diuretic intake. Renal underexcretion of uric acid appears to be more severe in female than in male patients with gout.

[The serum and intraerythrocyte concentration of ferritin in the anemia of rheumatoid arthritis]. / Concentración sérica e intraeritrocitaria de ferritina en la anemia de la artritis reumatoide.

Serum concentration of ferritin (Ft) and its glycosylated fraction (Ft-Gl) and intraerythrocytic ferritin (Ft-e) concentration were measured in 26 patients with anemia and active rheumatoid arthritis. Patients were divided into 2 groups according to the presence of anemia of chronic diseases (n = 13) or associated ferropenia. Unlike the first group, patients with associated ferropenia had lower concentration of the above parameters than 31 control subjects. The logarithmic value of FT (log FT) directly correlated with globular sedimentation velocity. Ft-Gl and log Ft-e correlated with transferrin saturation (r = 0.603, p less than 0.01 and r = 0.444, p less than 0.05). Log Ft-e also correlated with Ft (r = 0.504, p less than 0.01). The probability of ferropenia when Ft was 60 micrograms/l or lower was 0.91, and when Ft-e was 1.5 ag/cel or lower was 0.66. It is concluded that the ferropenic status in active rheumatoid anemia decreases the iron dependent synthesis of ferritin (Ft-Gl) more than that mediated by the acute phase response. The intraerythrocytic content is low due to the scanty iron supply to the erythroblast. Ft is more efficacious than Ft-e in the diagnosis of ferropenia.

[Psychological aspects of rheumatoid arthritis. Attempt at a better understanding of the problem]. / Aspects psychologiques de l'arthrite rhumatoïde. Essai pour une meilleure compréhension du problème.

This study is an attempt to identify the principle causes of stress in patients affected with rheumatoid arthritis. It is based on personal experience with 62 patients treated in a multidisciplinary manner over a time period of two years. The psychological impact of these stress factors on the patients were evaluated in an effort to further the treatment methodologies in this area. Among the factors considered are: the disease as a chronic process and as a result the progressive destruction of bodily function, the limitations produced by a disease of the joints, the presence of pain and the side effects produced by the medications. As a step to lessen the mental distress caused by RA, it is proposed that the physician team should seek to inform the patient in a clear and concise manner about RA to establish a working doctor-patient line of communication, and to encourage activities that promote the maintenance of patient self esteem.