Scielo RSS <![CDATA[Revista médica de Chile]]> https://scielo.conicyt.cl/rss.php?pid=0034-988720180009&lang=es vol. 146 num. 9 lang. es <![CDATA[SciELO Logo]]> https://scielo.conicyt.cl/img/en/fbpelogp.gif https://scielo.conicyt.cl <![CDATA[Efectividad de un programa de rehabilitación autoadministrado en el tratamiento del síndrome de hombro doloroso en atención primaria de salud: un estudio clínico aleatorizado, simple ciego]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000900959&lng=es&nrm=iso&tlng=es Background: Shoulder pain syndrome (SPS) is frequent and management in primary care is precarious, with a high rate of referral without adequate treatment, overloading rehabilitation and orthopedic services. Aim: To assess the effectiveness of a self-administered rehabilitation program in adults with shoulder pain syndrome in primary care. Patients and Methods: A randomized, single-blind clinical trial (evaluators) with an experimental group (self-administered rehabilitation) and a control group (standard physical therapy) was carried out in 271 adult patients aged 18 or older with unilateral shoulder pain lasting more than six weeks and less than three months. The primary outcome was the recovery perceived by the patient. Constant score for function, quality of life using SF-36, simple shoulder test (SST) and the Disabilities of the Arm, Shoulder, and Hand (DASH) score were also calculated at six, 12 and 24 weeks of follow-up. Results: The self-administered rehabilitation program showed an adjusted effectiveness of 51% at the end of treatment compared to 54% of the standard physical therapy (p &gt; 0.05). No differences in the evolution of the other scores assessed were observed between groups. Conclusions: A self-administered rehabilitation program for painful shoulder was non-inferior than usual physical therapy. <![CDATA[Impacto de un programa de control de antimicrobianos (PCA) y licitaciones públicas sobre el consumo de estos medicamentos]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000900968&lng=es&nrm=iso&tlng=es ABSTRACT Background: The long-term effect of an antimicrobial stewardship program (ASP) and its integrated impact with competitive biddings have been seldom reported. Aim: To evaluate the long-term effect of an ASP on antimicrobial consumption, expenditure, antimicrobial resistance and hospital mortality. To estimate the contribution of competitive biddings on cost-savings. Material and Methods: A comparison of periods prior (2005-2008) and posterior to ASP initiation (2009 and 2015) was done. An estimation of cost savings attributable to ASP and to competitive biddings was also performed. Results: Basal median antimicrobial consumption decreased from 221.3 to 170 daily defined doses/100 beds after the start of the ASP. At the last year, global antimicrobial consumption declined by 28%. Median antimicrobial expenditure per bed (initially US$ 13) declined to US$ 10 at the first year (-28%) and to US$ 6 the last year (-57%). As the reduction in consumption was lower than the reduction in expenditure during the last year, we assumed that only 48.4% of savings were attributable to the ASP. According to antimicrobial charges per bed from prior and after ASP implementation, we estimated global savings of US$ 393072 and US$ 190000 directly attributable to the ASP, difference explained by parallel competitive biddings. Drug resistance among nosocomial bacterial isolates did not show significant changes. Global and infectious disease-associated mortality per 1000 discharges significantly decreased during the study period (p &lt; 0.05). Conclusions: The ASP had a favorable impact on antimicrobial consumption, savings and mortality rates but did not have effect on antimicrobial resistance in selected bacterial strains.<hr/> Antecedentes: Existe poca información sobre el impacto a largo plazo de un programa de control de antimicrobianos (PCA) y su efecto combinado con licitaciones públicas de fármacos. Objetivo: Evaluar el impacto de un PCA sobre el consumo, gasto, mortalidad y estimar la contribución de las licitaciones. Material y Métodos: Comparación antes (2005-2008) - después (2009-2015) del PCA y estimación porcentual del ahorro atribuible al PCA y licitaciones. Resultados: El consumo bajó de 221,3 a 170 dosis diarias definidas por 100 días camas (medianas) al primer año. En el último año el consumo declinó un 27,6%. La mediana del gasto por cama ocupada se redujo de 13 a 10 US$ el primer año y a 6 US$ el último año (-57%). Debido a que el gasto bajó más que el consumo, estimamos que solo el 48,4% del ahorro fue debido al PCA (cuociente de ambas reducciones: −27,6%/-57%). De acuerdo con el gasto en antimicrobianos por cama entre ambos períodos, se calculó un ahorro global de 393.000 US$ y de 190.000 US$ directamente atribuible al PCA, siendo la diferencia explicada por licitaciones. Los porcentajes de resistencia en cepas de infecciones nosocomiales no mostraron incrementos o reducciones significativas en el tiempo y la mortalidad por egresos asociada a enfermedades infecciosas (Códigos CIE 10) se redujo significativamente (p &lt; 0,05). Conclusiones: El PCA se asoció a largo plazo a un impacto favorable sobre el consumo de antimicrobianos, gasto por antimicrobianos y egresos por enfermedades infecciosas sin un impacto en la resistencia antimicrobiana. Las licitaciones tuvieron un efecto aditivo en el ahorro. <![CDATA[Alta prevalencia de trastornos nutricionales por exceso, resistencia insulínica y síndrome metabólico en escolares de la comuna de Carahue, Región de la Araucanía]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000900978&lng=es&nrm=iso&tlng=es Background: Childhood and adolescent obesity is a major public health problem in Chile. Aim: To characterize cardiometabolic risk factors in a population of schoolchildren from Carahue, Chile. Material and Methods: Cross-sectional assessment of 208 children aged 10.4 ± 1.0 years (106 women). A clinical evaluation was carried out including pubertal development according to Tanner and anthropometric parameters. A fasting blood sample was obtained to measure glucose, insulin and lipid profile. HOMA-IR and Quicki indices were calculated. Insulin resistance (IR) was established according to Burrows criteria and Barja criteria, previously proposed for the Chilean pediatric population. The metabolic syndrome (MetS) was established using the modified Cook criteria. Results: Thirty eight percent of children had overweight and 33.1% obesity. MetS was only observed in obese subjects and the frequency in this subgroup was 38%. The prevalence of IR was 51% according to the Burrows criteria and 19% according to Barja criteria. It was more common in participants who were overweight, obese or had abdominal obesity. Children with insulin resistance according to Barja criteria, had worse anthropometric measures than their counterparts without resistance. When Burrows criteria was used, no differences in anthropometric measures were observed between participants with or without resistance. The frequency of MetS was 26 and 18% in children with insulin resistance according to Barja and Burrows criteria, respectively. Insulin levels and insulin sensitivity indexes were positively correlated with anthropometric parameters. Conclusions: There was a high prevalence of overweight, obesity and MetS in these participants. Our results suggest that the IR criteria according to Barja allows to identify cases with higher metabolic risk. <![CDATA[El índice de masa corporal como fenotipo en el perfil clínico y funcional en mujeres con osteoartritis de rodilla]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000900987&lng=es&nrm=iso&tlng=es Background: Obesity is associated with pain, reduction of function and quality of life in patients with osteoarthritis (OA). Aim: To describe the clinical profile of women with knee OA according to their body mass index (BMI). Material and Methods: Observational study in 308 women with knee OA. According to their BMI, they were classified as normal-weight, overweight and obese. The primary outcome measure was functionality evaluated with the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Secondary outcomes were sleep quality evaluated using the Pittsburgh Sleep Quality Index (PSQI) and quality of life assessed with the European Quality of Life Five Dimension (EuroQol-5D). Results: WOMAC, PSQI and EuroQol-5D scores were significantly higher in obese women. Conclusions: Overweight and obese women with OA have more sleep disorders, reduction on functionality and quality of life compared to their normal weight counterparts. <![CDATA[Principales aeroalérgenos en rinoconjuntivitis alérgica en la ciudad de Temuco, Chile]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000900994&lng=es&nrm=iso&tlng=es Background: Allergic rhinoconjunctivitis (ARC) has a prevalence of 30% in industrialized countries. For an accurate diagnosis and treatment, it is crucial to identify the causative aeroallergen. Aim: To evaluate aeroallergen sensitization in adults with ARC in the city of Temuco, Chile. Patients and Methods: A skin test against the main aeroallergens present in Temuco was carried out in patients aged 15 to 64 years with ARC diagnosed by medical examination and the Score For Allergic Rhinitis. Results: At least one aeroallergen sensitization was present in 234 (62.4%) out of 375 patients. Pollen-sensitized patients were positive mainly for Grasses (44.4%), Plantago (27.8%), Cynodon (26.1%), Sorrel (23.5%), Birch (14.9%), Nothofagus obliqua (13.3%) and Alder (11.1%). Dust mites were the most common non-pollinic sensitizing aeroallergens, including Dermatophagoides pteronyssinus (70.1%) and Dermatophagoides farinae (62.8%). Conclusions: According to our results, skin tests in the city of Temuco should include at least dust mites, pollens of Grasses, Plantago, Cynodon, Sorrel, Birch, Nothofagus obliqua and Alder, because these allergens account for 93% of ARC cases in this city. <![CDATA[Depresión posparto: tamizaje, uso de servicios y barreras para su tratamiento en centros de atención primaria]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901001&lng=es&nrm=iso&tlng=es Background: Postpartum depression (PPD) is a public health issue, and appropriate screening may lead to clinical gains. Aim: To describe the screening for PPD, its relationship with the use of health care services, and treatment access barriers in Chilean public primary health care (PHC) centers. Material and Methods: Puerperal women attending PHC centers for a well-child check-up were assessed for the presence of PPD using the Edinburgh Postnatal Depression Scale and a structured psychiatric interview. PPD cases were assessed by telephone three months later. Also, women with PPD and PHC workers were interviewed to explore treatment barriers. Results: Of the 305 women assessed, 21% met diagnostic criteria for PPD. Sixty five percent of assessed women were previously screened for PPD while attending well-child check-ups. The results of the screening were communicated to 60% of them and 28% received some management indication. After three months of follow up, 70% of PPD cases continued to be depressed, and two thirds of them did not consult a health care provider and most of them rejected psychotherapy or medical treatment. Conclusions: Management of postpartum depression should be substantially improved in public PHC from screening to treatment. <![CDATA[Validez y confiabilidad del cuestionario <em>Eating Assessment Tool 10</em> (EAT-10) para detectar disfagia en adultos mayores chilenos]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901008&lng=es&nrm=iso&tlng=es Background: In Chile, comprehensive geriatric assessment does not include the identification of dysphagia, despite being considered a geriatric syndrome. The Eating Assessment Tool 10 (EAT-10) questionnaire is a 10-question instrument that specifically describes the perception of dysphagia and has a Spanish translation. Aim: To validate and test the reliability of the EAT-10 questionnaire in Chilean older people living in the community. Material and Methods: The EAT-10 score was applied to 80 participants aged 75 ± 14 years (51 women). Other observer, blinded to the result of the score, performed the volume-viscosity swallow test as the gold standard to assess dysphagia. Results: The translated version of the EAT-10 had a strong internal consistency (Cronbach alfa =0.89) and interobserver consistency (100%). Using a score of seven as cutoff point, the EAT-10 had a sensitivity of 75%, specificity of 86% to detect dysphagia, when compared with the volume-viscosity swallow test. Conclusions: The EAT-10 questionnaire is valid and reliable and can be used as a clinical instrument in primary care in our country to identify older people with dysphagia. <![CDATA[Prevalencia de vida y factores asociados al consumo de marihuana en estudiantes escolarizados de Pamplona-Colombia, durante el primer período de 2015: estudio Emtamplona]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901016&lng=es&nrm=iso&tlng=es Background: Marijuana consumption is a public health problem. Aim: To determine the life time prevalence of marijuana use among Colombian adolescents and the factors associated with its consumption. Material and Methods: Secondary analysis of data from a study aimed to determine the prevalence of smoking. A self-administered and anonymous questionnaire was answered by 814 adolescents aged 14 ± 2 years (439 women). Results: Ten percent of respondents consumed marijuana at least once in their life. A logistic regression analysis showed that professing a non-christian religion, being smoker and having an age over 12 years, was associated with marijuana consumption. Conclusions: There is a high frequency of marijuana use among these adolescents. <![CDATA[Alteración de signos vitales dentro de las 72 h previas a la activación de código azul en pacientes adultos hospitalizados de un hospital universitario]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901024&lng=es&nrm=iso&tlng=es Background: Medical emergencies (ME) in hospitalized patients (cardiac and respiratory arrest, suffocation, asphyxia, seizures, unconsciousness) are associated with high morbidity and mortality. Most of these patients have signs of physiological deterioration prior to the appearance of the emergency. Early detection of warning signs by rapid response teams (RRT) may provide an opportunity for the prevention of major adverse events. Aim: To identify clinical signs predicting death, need for mechanical ventilation, or transfer to a more complex unit during the 72 hours prior to the activation of the ME code. To evaluate the association of each trigger with specific major adverse events. Patients and Methods: Medical records of 184 hospitalized adult patients in whom the ME code was activated between 2009 and 2014 were reviewed. Results: Seventy five percent patients who experienced a ME had predictive signs of poor clinical outcome. Polypnea and airway involvement were associated to mechanical ventilation. Hypotension and hypoxemia were associated with mortality. Conclusions: In the absence of RRT, special attention should be given to patients with polypnea, airway involvement, hypotension and desaturation, since these are associated with poor clinical outcomes. <![CDATA[La culpa médica en la responsabilidad de los hospitales públicos]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901028&lng=es&nrm=iso&tlng=es Under Chilean public law, liability of a public hospital appears when the institution fails to accomplish its mandatory duties or incurs in negligence. As in private law liability, this system requires to determine the duties of hospitals and, in case of a medical accident, professional standards or duties. This paper explores the two main categories of medical malpractice, namely erroneous diagnosis and treatment failures based on public law theory and judiciary methods. <![CDATA[Utilidad de la crio-tecnología para uso diagnóstico y terapéutico en neumología intervencionista: crio-biopsia pulmonar transbronquial y crioterapia]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901033&lng=es&nrm=iso&tlng=es Bronchoscopy cryoprobes are used for palliative treatment of endobronchial obstructions caused by tumors and removal of granulation tissue or foreign bodies. Currently this technology is also used for diagnosis of diffuse interstitial lung disease (ILD). The multidisciplinary team that establishes the clinical, radiological and histopathological correlation in ILD, decides about performing a surgical lung biopsy when the characteristics of the interstitial disease are not similar to Idiopathic Pulmonary Fibrosis (IPF). Although surgical lung biopsy is the gold standard for diagnosis, treatment, and prognosis, transbronchial cryo-biopsy has a high diagnostic yield, low morbidity and mortality rate, low rate of complications and lower cost. It is the diagnostic method of choice in ILD when it is available. Technological improvements with greater freezing power and tensile strength of the cryo probes, allow their use in cryotherapy and cryo-recanalization for occlusive airway tumors. <![CDATA[Síndrome de piernas inquietas/Willis Ekbom desde la mirada del psiquiatra]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901041&lng=es&nrm=iso&tlng=es Restless Legs Syndrome (RLS) or Willis-Ekbom Disease is an under-diagnosed chronic and progressive primary sensory-motor disorder. It can lead to severe sleep disturbances, a usual cause of consultation. It is characterized by an urgent need to move the legs in resting situations, a cardinal symptom that is usually accompanied by an unpleasant sensation in legs. These symptoms appear or aggravate at the end of the day and in resting situations and are alleviated with movement. Based on these clinical characteristics, it has been defined as a quiescegenic focal akathisia. The diagnosis is essentially clinical. As a guide, there are five cardinal diagnostic criteria. The treatment consists of non-pharmacological measures and the use of medications such as dopamine agonists. Despite the treatment, the symptoms persist in 40% of patients. Psychiatrists should be aware of the syndrome since many drugs used by them such as antipsychotics, antidepressants and anxiolytics can worsen the symptoms. Moreover, the syndrome may be associated with depressive and anxiety diseases. <![CDATA[El retablo de Isenheim: religión, arte y medicina]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901050&lng=es&nrm=iso&tlng=es Northern Europe at the beginning of the 16th Century was in turmoil as a result of religious and political dissention, epidemics of plague, syphilis, ergotism, and famine, and the threat of the Ottoman Empire. In Alsace, a fulcrum between Germany, France, Switzerland and the Netherlands, Grünewald painted his celebrated and complex altarpiece at Isenheim in a convent chapel of the Antonine religious order that kept a hospital for the care of patients suffering from ergotism, plague, syphilis and other illnesses. The ten paintings of this altarpiece convey a series of religious, medical and political meanings, with the scenes of the Crucifixion and the Resurrection being thought to play an integral part of the curative process. This was because patients could be soothed by comparing their suffering to that of Christ on the cross and could console themselves by the Resurrection. The portrait of Christ in the cross is astounding in its realism and naturalism. It represents, with great pathological veracity, a tortured body in agony, a break with previous traditional representations of this event. Impressive pathological detail is also given to a figure in the Temptation scene. The entire work is suffused with religious connotations provided by the composition, the forms and the richness and sophisticated use of colors. Although Grünewald's paintings are few and the facts of his personal life sparse, it is known he married a Jewish woman, supported the peasant revolts, and was probably a Lutheran in a Catholic area. While Grünewald is considered the epitome of a German artist, the universal projections of his art have influenced physicians and the artistic productions of many painters, writers, musicians and sculptors throughout the world. <![CDATA[Aspectos éticos de la conducta del médico ante personas en huelga de hambre: opinión del Departamento de Ética del Colegio Médico de Chile]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901059&lng=es&nrm=iso&tlng=es Every so often, in Chile there is a discussion about the role of physicians in the care of people on hunger strike (HS). In this document, we review the ethical aspects of health care for persons in HS, aiming to provide guidelines to medical doctors who are required to attend them. First, we make an important distinction between HS and suicide, since the former is used as a protest and denunciation tool, while suicide seeks deliberately to end a life. Then we describe the three roles that the health professional can fulfill: as a treating doctor, as an expert or as an official of a prison. The respect for the autonomy and dignity of the person in HS must prevail whatever the role of the physician. Therefore, we maintain that under no circumstances, people who have autonomously decided to be in HS should be fed by force. Due to the complexity of the issue, we make special considerations about the management of minors and the non-competent persons in HS. In conclusion, we adhere to the principles that inspire the Declaration of Malta, which indicate that it would be preferable to “allow a person on hunger strike to die in dignity, rather than subjecting them to repeated interventions against their will”. <![CDATA[<em>Entrustable Professional Activities:</em> Una propuesta innovadora para la evaluación de competencias médicas]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901064&lng=es&nrm=iso&tlng=es Medical education migrated from a practice-based to a knowledge-based discipline after the publication of the Flexner Report. The emergence of competence-based medical education led to a greater standardization of teaching, allowing students to integrate knowledge, skills and attitudes for the execution of a given task. A challenge is the evaluation of learning. Complex evaluation systems and a consequent atomization that independently assesses different competence components. However, the evaluation carried out at the clinical practice sites allows assessing the overall level of learning. Supervisors observe students’ performance and decide if the apprentice can execute a specific task independently. This decision is based upon the trust that the tutor places on the student. Consequently, Ten Cate (2005) proposed the term Entrustable Professional Activities (EPAs), as a framework for professional practice tasks or responsibilities that can be fully entrusted to students, when they demonstrate the competences that are necessary to execute such activity with an increasing level of autonomy. <![CDATA[Lesiones destructivas de la línea media facial secundarias al consumo de cocaína. Caso clínico]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901070&lng=es&nrm=iso&tlng=es Vasculitic midline destructive lesions can be a complication of cocaine use. We report a 44-year-old man who presented with a two months history of left facial pain associated with ipsilateral facial paralysis and a cheek phlegmon. Magnetic resonance imaging showed broad soft tissue destruction linked to important cranial nerve involvement. Antibiotic and antifungal therapy was started and multiple surgical debridement procedures were performed, with no clinical improvement. Microbiological analysis was negative. Finally, thanks to the histologic findings corresponding to vasculitis and granuloma formation and the history of cocaine abuse, a cocaine induced midline destructive lesion was diagnosed. <![CDATA[Trombocitopenia hereditaria relacionada a gen <em>MYH</em>-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901074&lng=es&nrm=iso&tlng=es We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The family history of the patient revealed the presence of thrombocytopenia in several family members. Suspecting a hereditary thrombocytopenia, a genetic study revealed a mutation in the MYH-9 gene. This mutation can be suspected when there is a family history of thrombocytopenia with autosomal dominant inheritance, macrothrombocytopenia and in this particular case, due to the response to thrombopoietin receptor agonist, eltrombopag. <![CDATA[Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901079&lng=es&nrm=iso&tlng=es Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented. <![CDATA[Evolución de una aplasia medular aparecida en un paciente en hemodiálisis crónica. Dieciséis años después…]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901085&lng=es&nrm=iso&tlng=es Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented. <![CDATA[¿Debe el tratamiento intensivo de la diabetes mellitus tipo 2 ser un indicador de actividad de la atención primaria?]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901086&lng=es&nrm=iso&tlng=es Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented. <![CDATA[Consumir más de 100 g de alcohol a la semana aumenta el riesgo de enfermedades cardiovasculares y disminuye la esperanza de vida]]> https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901087&lng=es&nrm=iso&tlng=es Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented.