Chronic fatigue syndrome: aetiology, diagnosis and treatment.

Chronic fatigue syndrome is characterised by intense fatigue, with duration of over six months and associated to other related symptoms. The latter include asthenia and easily induced tiredness that is not recovered after a night's sleep. The fatigue becomes so severe that it forces a 50% reduction in daily activities. Given its unknown aetiology, different hypotheses have been considered to explain the origin of the condition (from immunological disorders to the presence of post-traumatic oxidative stress), although there are no conclusive diagnostic tests. Diagnosis is established through the exclusion of other diseases causing fatigue. This syndrome is rare in childhood and adolescence, although the fatigue symptom per se is quite common in paediatric patients. Currently, no curative treatment exists for patients with chronic fatigue syndrome. The therapeutic approach to this syndrome requires a combination of different therapeutic modalities. The specific characteristics of the symptomatology of patients with chronic fatigue require a rapid adaptation of the educational, healthcare and social systems to prevent the problems derived from current systems. Such patients require multidisciplinary management due to the multiple and different issues affecting them. This document was realized by one of the Interdisciplinary Work Groups from the Institute for Rare Diseases, and its aim is to point out the main social and care needs for people affected with Chronic Fatigue Syndrome. For this, it includes not only the view of representatives for different scientific societies, but also the patient associations view, because they know the true history of their social and sanitary needs. In an interdisciplinary approach, this work also reviews the principal scientific, medical, socio-sanitary and psychological aspects of Chronic Fatigue Syndrome.

High prevalence of cardiovascular risk in patients with toxic oil syndrome: a comparative study using the general Spanish population.

BACKGROUND: The objective of this study was to compare current prevalence of major cardiovascular risk factors (CRF) between a cohort of patients affected by the toxic oil syndrome (TOS) epidemic, which occurred in Spain in 1981, and the unaffected Spanish population. METHODS: This was a case-referent study covering 1276 TOS cases and a referent population of 2843 (aged 35-65 years) using data collected from 1996 to 2003. Study variables were high blood pressure, hyperglycemia, dyslipemia, obesity, and metabolic syndrome. Smoking habit, alcohol intake, family and personal history of ischemic heart disease, as well as a personal history of cerebrovascular disease were also assessed in TOS patients. RESULTS: Compared to the general population, TOS patients registered a threefold rise in prevalence of diabetes, a 2.57-fold increase in hypertension, a 1.38-fold increase in total hypercholesterolemia, a 1.20-fold increase in hyper-LDL-cholesterolemia, and a high prevalence of metabolic syndrome (35% versus 25%). Nevertheless, the prevalence of hypo-HDL-cholesterolemia was significantly lower in those affected by TOS. No differences were found for other CRFs. CONCLUSION: Compared to the general population, cases display a much higher prevalence of all major CRFs. However, an increase in HDL-cholesterol protective factor is in evidence for the first time.

[Fabry disease in Spain: first analysis of the response to enzyme replacement therapy]. / Enfermedad de Fabry en España: primer análisis de la respuesta al tratamiento de sustitución enzimática.

BACKGROUND AND OBJECTIVE: Fabry disease is a X-linked lysosomal disorder caused by a deficient activity of the enzyme alfa-galactosidase A. Lack of enzyme activity results in progressive accumulation of globotriaosylceramide (Gb3) leading to multiorgan dysfunction and early death. Enzyme replacement therapy (ERT) has recently become available and the database Fabry Outcome Survey (FOS) of Spain gives us the opportunity to asses the efficacy of this therapy. Our objective is to describe the safety and the effects on renal, cardiac and neurological (pain) aspects of ERT with agalsidase alfa. PATIENTS AND METHOD: The effects of 1, 2, 3 and 4 years of ERT with agalsidase alfa on renal function (assessed by estimated glomerular filtration rate), proteinuria, heart size (assessed by echocardiography), arrhythmias, cardiac valvular anomalies and pain (assessed by the need of concomitant pain therapy) were analyzed in 33 patients under treatment. Safety of ERT was assessed by the reported infusion-related reactions in FOS. RESULTS: Overall, treatment with agalsidase alfa stabilized renal function, but the final result depends on the onset of ERT: there is a tendency to stabilization of renal function in those patients with mild deterioration of renal function, a tendency to improve in those patients with moderate deterioration and to worse in those with severe deterioration of renal function. Proteinuria and left ventricular heart size also estabilized under ERT, and pain improved. TSE infusion-related reactions occurred with an incidence of 0.7%. CONCLUSIONS: ERT with agalsidase alfa is safe and stabilized the abnormal clinical parameters observed in patients with Fabry disease.

Noninvasive study of endothelial function in white coat hypertension.

Several studies have demonstrated that endothelial dysfunction is present in patients with essential hypertension. However, the presence of endothelial dysfunction in patients with white coat hypertension has not been studied. We evaluated the variation in the diameter of the brachial artery produced by flow-mediated dilation after a mechanical stimulus in patients with recently diagnosed mild to moderate sustained essential hypertension compared with patients with white coat hypertension. A total of 29 patients fulfilled inclusion criteria; 15 healthy volunteers were also included. After 24-hour ambulatory blood pressure monitoring, 15 patients were classified with sustained essential hypertension; 14 patients with white coat hypertension. Vascular ultrasound scans were performed according to the method described by Celermajer et al, with modification for noninvasive determination of endothelial dysfunction. Basal brachial artery diameter did not differ significantly among the 3 groups. Changes in arterial diameter 60 seconds after cuff deflation were higher in the control group compared with both hypertensive groups, but no significant differences were found between the sustained essential hypertension group and the white coat hypertension group. Flow-mediated dilation was similar in white coat hypertensives and sustained essential hypertensives. The presence of endothelial dysfunction in subjects with white coat hypertension suggests that it should not be considered a harmless trait and that white coat hypertension has common features with sustained essential hypertension.