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OBJECTIVES: Identify the elements that lead to the perception that primary health care physicians (PHCP) have as regards rare diseases (RD) as a whole, and to analyse the characteristics of these patients with rare diseases. METHODS: Descriptive cross-sectional study. Surveys completed by PHCP during the years 2008-2010 were used to explore socio-demographic data, health care facilities, manpower, and services, knowledge level, expectations, means of obtaining available information, and training-support preferences of RD. RESULTS: A total of 260 questionnaires were analysed. The average level of knowledge was 3.68 (SD 1.93), of interest 7.34 (SD 2.02), and of importance 7.51 (SD 1.69). Less than one quarter (20.4%) of responders had done some training activity. Care at home (6.38, SD 2.07) is the most valued long term care option, emphasising the need of primary prevention (7.63 SD 1.5). Over one-third (35%) applied for some aid, mainly economic (37.4%). Internet is their main source of information (71.2%), and an average of 7.85 (SD 2.38) perceived the need for specific continuing training. By registered lists, each professional attends a mean of 2.45 (SD 3.69) patients with RD, 1.604% having temporary work disability, 1.479% having some disability and 1.62% with a dependence situation. The follow up of RD patients was: at Hospital level 55.72%, by special reference units 44.34%, by specialists 39.75%, and exclusively at PHCP level 14.46%. CONCLUSIONS: PHCP have a low level of knowledge of RD, although a high interest, with emphasis on primary prevention, the importance of the family environment, genetic counselling and health education. They rarely request medical resources for RD. Internet is their main source of information, and prefer specific continuing education courses.

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Objetivos. Identificar los elementos que integran la percepción que tienen los médicos de atención primaria (AP) con respecto a las enfermedades raras (ER) en su conjunto y analizar las características de estos pacientes. Métodos. Estudio de corte transversal descriptivo mediante encuestas cumplimentadas por médicos de AP. Se incluyen variables sociodemográficas, sociosanitarias, grado de conocimiento, expectativas, forma de obtener información y preferencias de formación sobre ER, durante los años 2008-2010. Resultados. Se analizan 260 encuestas. El grado medio de conocimiento es de 3,68 (DE 1,93), de interés 7,34 (DE 2,02) y de importancia 7,51 (DE 1,69). El 20,4% han realizado alguna actividad formativa. La atención domiciliaria (6,38; DE 2,07) es la opción sociosanitaria más valorada; considerando más necesaria la prevención primaria (7,63; DE 1,5). El 35% solicita alguna ayuda, principalmente económica (37,4%). Internet resulta su fuente principal de información (71,2%) y una media de 7,85 (DE 2,38) percibe la necesidad de cursos de formación continuada específicos. Por cupo existen 2,45 (DE 3,69) pacientes con ER, en situación de incapacidad laboral transitoria (ILT) el 1,604%, presenta discapacidad el 1,479% y dependencia el 1,62%. Realizando seguimiento hospitalario el 55,72%, en unidades de referencia el 44,34%, por especialista de zona el 39,75% y únicamente por AP el 14,46%. Conclusiones. Existe un grado de conocimiento bajo en ER por parte del médico de AP, aunque un gran interés, priorizando la prevención primaria, la importancia del entorno familiar, el consejo genético y la educación sanitaria. El médico de AP solicita escasos recursos para las ER. Internet es su fuente principal de información y prefiere los cursos de formación continuada específicos (AU)

Objectives. Identify the elements that lead to the perception that primary health care physicians (PHCP) have as regards rare diseases (RD) as a whole, and to analyse the characteristics of these patients with rare diseases. Methods. Descriptive cross-sectional study. Surveys completed by PHCP during the years 2008-2010 were used to explore socio-demographic data, health care facilities, manpower, and services, knowledge level, expectations, means of obtaining available information, and training-support preferences of RD. Results. A total of 260 questionnaires were analysed. The average level of knowledge was 3.68 (SD 1.93), of interest 7.34 (SD 2.02), and of importance 7.51 (SD 1.69). Less than one quarter (20.4%) of responders had done some training activity. Care at home (6.38, SD 2.07) is the most valued long term care option, emphasising the need of primary prevention (7.63 SD 1.5). Over one-third (35%) applied for some aid, mainly economic (37.4%). Internet is their main source of information (71.2%), and an average of 7.85 (SD 2.38) perceived the need for specific continuing training. By registered lists, each professional attends a mean of 2.45 (SD 3.69) patients with RD, 1.604% having temporary work disability, 1.479% having some disability and 1.62% with a dependence situation. The follow up of RD patients was: at Hospital level 55.72%, by special reference units 44.34%, by specialists 39.75%, and exclusively at PHCP level 14.46%. Conclusions. PHCP have a low level of knowledge of RD, although a high interest, with emphasis on primary prevention, the importance of the family environment, genetic counselling and health education. They rarely request medical resources for RD. Internet is their main source of information, and prefer specific continuing education courses (AU)

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BACKGROUND: The toxic oil syndrome (TOS) is an autoimmune disease caused by the ingestion of aniline-denatured rapeseed oil. The carpal tunnel syndrome (CTS) is an entrapment neuropathy due to the median nerve entrapment, which is associated with both occupational activities and autoimmune diseases. The objective of this work was to know the frequency and characteristics of CTS in TOS patients. PATIENTS AND METHODS: Between December 1977 and July 2000, 744 TOS patients were evaluated. The inclusion criteria were: the clinical records for patients diagnosed between May 1981 and November 1997; and for patients diagnosed between December 1997 and July 2000, symptoms with the classical or likely pattern according to the Katz's hand diagram and one of the following findings: a) abnormal electromyogram, and b) hypalgesia in the median nerve territory and positive Tinel and/or Phalen signs. RESULTS: A total of 70 patients (63 women, 90%) were diagnosed; 48 of them had been diagnosed before 1997 and 22 subsequently. The mean age of patients was 47.6 (20-78) years. In 36 patients (51.4%), a bilateral CTS was present. Fifty-six patients (81.4%) had a diagnostic EMG, and 31 (44.2%) were obese, 13 (18.6%) diabetic, and 4 (6%) had hypothyroidism. Most of these cases (48; 68.6%) were housewives. CONCLUSIONS: TOS patients have a high frequency of CTS; therefore, this condition must be suspected in patients with associated obesity and diabetes mellitus.

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Aceptado para su publicación el 15 de marzo de 2001.d Fundamento. El síndrome del aceite tóxico (SAT) es una enfermedad de naturaleza autoinmune producida por el consumo de aceite de colza desnaturalizado con anilina. El síndrome del túnel del carpo (STC) es una neuropatía producida por compresión del nervio mediano, asociada a actividades profesionales y enfermedades autoinmunes. Realizamos este estudio con el objetivo de conocer la frecuencia y características del STC en los pacientes del SAT. Material y métodos. Evaluamos 744 enfermos de SAT entre diciembre de 1997 y julio de 2000. Criterios de inclusión: para los pacientes diagnosticados entre mayo de 1981 y noviembre de1997 la historia clínica y para los diagnosticados entre diciembre de 1997 y julio de 2000 los síntomas con patrón clásico o probable según el diagrama de Katz y uno de los siguientes hallazgos: a) electromiograma patológico, y b) hipoalgesia en el territorio del nervio mediano y signos de Tinel y/o Phalen positivos. Resultados. Encontramos 70 pacientes (9,4 por ciento), 48 diagnosticados antes de 1997 y 22 con posterioridad. La edad media era de 47,6 (20-78) años, siendo 63 (90 por ciento) mujeres. En 36 casos (51,4 por ciento) el STC era bilateral. Cincuenta y siete pacientes (81,4 por ciento) tenían EMG diagnóstico. Treinta y uno (44,2 por ciento) eran obesos, 13 (18,6 por ciento) diabéticos y 4 (6 por ciento) hipotiroideos. La mayoría (48 casos, 68,6 por ciento) eran amas de casa. Conclusiones. Los pacientes del SAT tienen una alta frecuencia de STC, por lo que hay que tener un alto índice de sospecha para esta patología, sobre todo si presentan obesidad y diabetes mellitus asociada (AU)

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In 1981, the Spanish toxic oil syndrome (TOS) affected more than 20,000 people, and over 300 deaths were registered. Assessment of genetic polymorphisms on xenobiotic metabolism would indicate the potential metabolic capacity of the victims at the time of the disaster. Thus, impaired metabolic pathways may have contributed to the clearance of the toxicant(s) leading to a low detoxification or accumulation of toxic metabolites contributing to the disease. We conducted a matched case-control study using 72 cases (54 females, 18 males) registered in the Official Census of Affected Patients maintained by the Spanish government. Controls were nonaffected siblings (n =72) living in the same household in 1981 and nonaffected nonrelatives (n = 70) living in the neighborhood at that time, with no ties to TOS. Genotype analyses were performed to assess the metabolic capacity of phase I [cytochrome P450 1A1 (CYP1A1), CYP2D6] and phase II [arylamine N-acetyltransferase-2 (NAT2), GSTM1 (glutathione S-transferase M1) and GSTT1] enzyme polymorphisms. The degree of association of the five metabolic pathways was estimated by calculating their odds ratios (ORs) using conditional logistic regression analysis. In the final model, cases compared with siblings (72 pairs) showed no differences either in CYP2D6 or CYP1A1 polymorphisms, or in conjugation enzyme polymorphisms, whereas cases compared with the unrelated controls (70 pairs) showed an increase in NAT2 defective alleles [OR = 6.96, 95% confidence interval (CI), 1.46-33.20] adjusted by age and sex. Glutathione transferase genetic polymorphisms (GSTM1, GSTT1) showed no association with cases compared with their siblings or unrelated controls. These findings suggest a possible role of impaired acetylation mediating susceptibility in TOS.

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OBJECTIVE: To report the symptoms and analytical findings observed in the collective of patients affected with the toxic oil syndrome (TOS) 18 years after the poisoning. METHODS: At the Centro de Investigación sobre el Síndrome del Aceite Tóxico (CISAT) we followed the clinical and analytical course of 758 patients affected with the TOS since December 1997 up to May 1999. Patients were evaluated by means of a previously standardized questionnaire in which a clinical review and a battery of complementary tests (thyroid hormones, spirometry with diffusion test and arterial gasometry) were included. One hundred and sixty-two patients underwent also echocardiogram because of presumptive pulmonary hypertension and/or heart disease. RESULTS: Out of the 758 patients, 516 were females and 242 males (M:F ratio 2:1), with ages ranging from 17 to 84 years (mean age 47 years). One of the most remarkable findings was the increased prevalence of cardiovascular risk factors: arterial hypertension (34%), dyslipemias (44%), overweight (40%), obesity (27%), carbohydrate intolerance (9%) and diabetes mellitus (9.4%). The most common reported symptoms were: cramps (78%), arthralgias (78%), and paresthesias (70%). Only 2.8% of patients reported to be asymptomatic. The analytical results most commonly changed were: changes in lipidic and carbohydrate metabolism (already reported), overt or subclinical hypothyroidism (6.6%) and respiratory changes in patients with no previous pulmonary disease: changes in spirometry (6%), diffusion test (8%) and hypoxemia (18%). Echocardiographic findings suggestive of PHT were obtained in 3.1% of cases. CONCLUSIONS: Although TOS occurred in 1981, this syndrome still has a relevant morbidity in a portion of the spanish population. To remark the high prevalence of cardiovascular risk factors with changes in lipidic and carbohydrate metabolism and subclinical hypothyroidism observed in our series. Further studies are necessary to evaluate the actual dimension of this poisoning.

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Objetivo. Describir la sintomatología y los hallazgos analíticos que el colectivo de pacientes afectados por el síndrome del aceite tóxico (SAT) presenta 18 años después de haber sufrido la intoxicación. Métodos. En el centro de Investigación sobre el Síndrome del Aceite Tóxico (CISAT) hemos seguido la evolución clínica y analítica de 758 pacientes afectados por el SAT desde diciembre de 1997 hasta mayo de 1999. Los pacientes fueron evaluados mediante un cuestionario previamente estandarizado en el que se incluía una revisión clínica y una batería de exploraciones complementarias, entre las que se incluían hormonas tiroideas, espirometría con prueba de difusión y gasometría arterial. A 162 pacientes se les realizó además ecocardiograma por presentar sospecha de hipertensión pulmonar y/o cardiopatía. Resultados. De los 758 pacientes, 516 eran mujeres y 242 varones (M:V-2:1), con edades comprendidas entre 17 y 84 años (edad media de 47 ñ años). Uno de los hallazgos más llamativos fue la elevada prevalencia de los factores de riesgo cardiovasculares: hipertensión arterial (34 por ciento), dislipidemias (44 por ciento), sobrepeso (40 por ciento), obesidad (27 por ciento), intolerancia hidrocarbonada (9 por ciento) y diabetes mellitus (9,4 por ciento). Los síntomas más frecuentemente referidos fueron: calambres (78 por ciento), artralgias (78 por ciento) y parestesias (70 por ciento). Únicamente referían estar asintomáticos el 2,8 por ciento de los afectados. Los resultados analíticos alterados con más frecuencia fueron: alteraciones del metabolismo lipídico e hidrocarbonado (ya referidos), hipotiroidismo franco o subclínico (6,6 por ciento) y alteraciones respiratorias en pacientes sin patología pulmonar previa conocida: alteraciones en la espirometría (6 por ciento), en la prueba de difusión (8 por ciento) e hipoxemia (18 por ciento). Se obtuvieron datos ecocardiográficos sugestivos de hipertensión pulmonar (HTP) en el 3,1 por ciento de los casos. Conclusiones. A pesar de que el SAT ocurrió en 1981, este síndrome sigue teniendo una importante morbilidad en parte de la población española, destacando la elevada prevalencia de factores de riesgo cardiovascular con alteraciones del metabolismo lipídico e hidrocarbonado e hipotiroidismo subclínico encontrados en nuestra serie. Son necesarios estudios ulteriores para evaluar la dimensión definitiva de esta epidemia (AU)

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OBJECTIVE: To know the prevalence of hyperglycemia in patients with Spanish toxic oil syndrome (TOS). To analyze clinical, biochemical, and pathological associated factors. To compare them with a control group. DESIGN: Case and controls study. SETTING: Primary Health Care. XI Sanitary district in Madrid. PATIENTS AND OTHER PARTICIPANTS: 734 cases with toxic oil syndrome. 1474 control subjects. MEASUREMENTS AND MAIN RESULTS: Prevalence of impaired glucose tolerance was 2.95% in TOS and 0.07% in control subjects (p < 0.001; OR, 7.55; IC, 291-19.57). Diabetes No insulin treated was 7.78% in TOS and 3.26% in controls (p < 0.001; OR 250; IC 1.62-3.87). Diabetes insulin treated was 1.99% in TOS and 0.47% in controls (p < 0.01; OR, 4.98; IC, 1.80-13.78). Prevalence of diabetes mellitus in TOS was 9.77 and 3.67% (p < 0.001; OR, 2.85; IC, 1.90-4.25) in controls. The pancreatic lesions found in the necropsies were vasculitis type TOS (4 cases) and endothelial vascular lesions (1 case). CONCLUSIONS: The prevalence of hyperglycemia in TOS reached 13%, where as in the control subjects, it was 3.8% (p < 0.001). The pancreatic lesions detected in deceased TOS patients did not coincide with those commonly described in diabetes mellitus.

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OBJECTIVE: To determine the longterm clinical and functional outcome among a large group of patients with toxic oil syndrome (TOS). METHODS: One hundred individuals with onset in 1981 were randomly selected for followup in 1993 from a national TOS database. Clinical and laboratory data for 1981 were collected by retrospective chart review. Ninety-one survivors were reevaluated in 1993 by direct interview, examination, the Health Assessment Questionnaire (HAQ), and the visual analog scale (VAS) for pain. A semiquantitative Total Clinical Score (TCS) was created to assess relative global outcome in 1993, for comparison with the HAQ, and for developing a predictive model based on disease manifestations at onset. RESULTS: Fifty-eight percent continue to have symptoms consisting predominantly of muscle cramping (60%), fatigue (55%), arthralgias (43%), subjective cognitive impairment (44%), psychiatric disease (27%), and soft tissue tenderness (22.5%). Severe neuromuscular sequelae, sclerodermatous skin disease, or pulmonary hypertension were not detected. The most notable laboratory findings at followup were hypercholesterolemia (55%) and hyperglycemia (14.5%). A good correlation was demonstrated between both the HAQ and the VAS for pain with the TCS. A statistical model indicated that alopecia, Raynaud's phenomenon, and sensory neuropathy were predictive of outcome. CONCLUSION: TOS is commonly associated with longterm neuromuscular and articular disease. Multiple factors implicated in the adaptation to chronic disease may contribute to this morbidity.

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The authors studied the pulmonary haemodynamic response to exercise in eleven patients with toxic oil syndrome (TOS) (mean age 38.3 +/- 15.7 years; 10 women, 1 man) and abnormal pulmonary diffusing capacity (39.1 +/- 10.3% of predicted value) without clinical evidence of pulmonary hypertension. Eight patients had normal pulmonary pressure at rest (mean PAP less than 25 mmHg) and three showed mild pulmonary hypertension. After exercise the mean PAP rose to 35.3 +/- 11.5 mmHg from a basal value of 20.72 +/- 3.8 mmHg (p less than 0.01). Only four patients did not develop pulmonary hypertension during exercise. Pulmonary artery oxygen saturation decreased from 72.9 +/- 1.9% at rest to 52.3 +/- 10.1% during exercise (p less than 0.01). In conclusion, in this subset of TOS patients, an early diagnosis of their subclinical pulmonary hypertension can be made on the basis of the presence of dyspnoea and abnormal pulmonary diffusing capacity for carbon monoxide and can be then confirmed with the exercise haemodynamic test.

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