Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

AIMS: Fabry disease (FD) is an X-chromosome-linked transmitted lysosomal storage disorder as a result of the deficient activity of enzyme α-galactosidase A. This leads to accumulation of neutral glycosphingolipids associated with organ involvement and premature death. We report the clinical characteristics of Spanish patients enrolled on the Fabry Outcome Survey (FOS; an international multicentre registry for the disease) and also compare these data with those from the rest of Europe. METHODS: Baseline clinical data of 92 patients (41 males and 51 females) are described and analysed globally and according to gender. We compare the data of Spanish patients with those previously published from the rest of Europe patients in FOS. RESULTS: Mean age of onset of symptoms in men was 20, and 24 years in women, with a mean delay of 11 years to the diagnosis in both genders. The predominant clinical involvement in male patients was renal (69%), cardiac (66%) and neurological (60%), and for female patients, it was neurological (42%), cardiac (33%), keratopathy (30%) and nephropathy (28%). Disease severity was significantly higher in male patients. Compared to the rest of European FOS-patients, Spanish patients were diagnosed at an earlier age with a smaller proportion of disease-related involvement for most organ irrespective of gender, though not its global severity in male patients. CONCLUSIONS: We present the largest cohort of Spanish patients diagnosed with FD. The pattern of involvement (though not its global severity) could be different in Spanish patients in comparison with others from Europe. Expanding the knowledge of FD will permit early diagnosis as well as the possibility of starting the specific treatment.

[Intestinal tuberculosis in patients with and without HIV infection]. / Tuberculosis intestinal en pacientes con y sin infección por VIH.

GOAL: To Study the main characteristics of intestinal tuberculosis (ITB), comparing patients with and without infection by HIV (HIV and non-HIV, respectively). PATIENTS AND METHODS: The clinical records of patients diagnosed of this disease in the past five years in our center, were retrospectively reviewed. We used as inclusion criteria the histological and/or microbiological corroboration of the intestinal anatomical piece or the bacteriological and/or histological corroboration of tuberculosis at any other location with clinical and radiological signs compatible with intestinal affection. Two groups were established according to the serological results for HIV: HIV and non-HIV. RESULTS: We studied seven cases, three of them infected by the HIV. The mean age of HIV patients was 23 years, whereas the mean age of non-HIV patients was 49 years. Three non-HIV patients referred pulmonary tuberculosis when they were young. The interval between the onset of symptoms and the diagnosis in HIV patients was 45 days, ranging in the non-HIV patients between one month and four years. All the patients had abdominal pain. Six patients, including three HIV, had fever and constitutional syndrome. Thoracal radiography showed tuberculosis activity, bacteriologically demonstrated, in a HIV patient and in a non-HIV patient. Except one HIV-patient, the remainder were laparotomized. In all the HIV patients, intestinal tuberculosis was suspected upon admission, but this was not the case in the four non-HIV patients. CAT was the most useful of all the supplementary explorations conducted. Retrospectively, only four laparotomies were justified, although before this procedure, four patients were incorrectly oriented, one of them infected by the HIV. All the patients showed a good response to an specific treatment. CONCLUSIONS: Laparotomy is still a frequent diagnostic method. The characteristics of the HIV patients are similar to the ones of the non-HIV patients. The main differences are: younger ages and shorter time of evolution until diagnosis in the HIV group, and evidence of former or current pulmonary tuberculosis in the non-HIV group.