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Background Fabry disease is an X‐linked lysosomal storage disorder with heterogeneous clinical expression in female patients ranging from asymptomatic to severe clinical presentations as in classic males. We assessed clinical profiles and compared natural history data of female patients eventually initiated on enzyme replacement therapy (“ERT‐recipients”) with those remaining untreated (“ERT‐naïve”). Methods We analyzed Fabry Registry data from 93 ERT‐recipients, collected prior to ERT initiation, and 76 ERT‐naïve females with classic or unclassified phenotypes from four Latin American countries and evaluated Fabry symptoms, interventricular septum thickness, left ventricular posterior wall thickness, estimated glomerular filtration rate, and severe clinical events. Results For 169 patients with available data, median age of first Fabry symptom manifestation was 12.7 years with peripheral pain as predominant first symptom, and diagnostic delay of 10.3 years from the first reported symptom. Female patients had high symptomatic burden during natural history follow‐up, with 83% reporting peripheral pain, 69%‐79% cold/heat intolerance or abnormal sweating, and 32% gastrointestinal symptoms. ERT‐recipients reported similar age at first symptom as ERT‐naïve patients but they were older at diagnosis (median 39.2 vs 24.4 years, P

Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-treatment abdominal pain was reported by 45% of females and diarrhea by 39%. At last follow-up, 31% reported abdominal pain (p

La enfermedad de Fabry es un error innato del catabolismo de los glucoesfingolipidos, de herencia recesiva ligada al cromosoma X, causado por la deficiencia de la enzima lisosomal alfa-galactosidasa A (α-gal A). Es un defecto poco frecuente, con una incidencia estimada de 1:80.000 a 1:117.000, entre la población general. Recientemente, el creciente conocimiento acerca de esta enfermedad, ha permitido el desarrollo de la terapia de reemplazo enzimático, la cual ha modificado el pronóstico y calidad de vida de los pacientes. En Chile, se desconoce la incidencia real, pero el aumento del número de pacientes diagnosticados durante los últimos cinco años, principalmente en la zona norte del país, ha generado un mayor interés por esta enfermedad. Esta guía fue elaborada con la intención de establecer un consenso para el diagnóstico, tratamiento y seguimiento de los pacientes con enfermedad de Fabry, basado en la evidencia científica, actualmente disponible.

Resumen La protoporfiria eritropoyetica (PPE) es una enfermedad de origen genetico provocada por el deficit de la enzima ferroquelatasa. Es poco frecuente y las caracteristicas clinicas mas frecuentes son las manifestaciones derivadas de la fotosensibilidad. Sin embargo, muchas veces los pacientes con PPE unicamente refieren sensaciones de prurito y quemazon tras la exposicion al sol sin lesiones clinicas objetivables, lo que dificulta el diagnostico. Describimos cuatro casos de PPE que hemos estudiado en la Unidad de Fotobiologia de nuestro servicio y repasamos los aspectos mas importantes de esta enfermedad.

Antecedentes: La enfermedad de Fabry (EF) es un desorden lisosomal de transmisión ligada al cromosoma X debido al déficit de la enzima alfa galactosidasa A, con acumulación multisistémica de globotriaosilceramida (GB3). La afectación cardíaca reduce expectativa y calidad de vida. Objetivo: Describir compromiso cardiológico de 38 pacientes con EF, diagnosticados y estudiados multidisciplinariamente. Destacar alta prevalencia en esta región. Método: A partir de caso índice, se aplica encuesta y elabora familiograma de 5 familias. Estudio genético y enzimático de 65 sospechosos confirma 38 afectados (25 Mujeres y 13 hombres) evaluados multidisciplina-riamente con Electrocardiograma, Ecocardiograma y exámenes de laboratorio. Resultado: Compromiso cardiológico en 66% de adultos, no presente en niños. Cardiopatía hipertrófica (CH) fue el hallazgo cardiológico más frecuente (56% de adultos) presente en 63% de los hombres y en 52% de las mujeres. En mayores de 40 años, 100% de hombres y 82% de mujeres están afectados. La edad promedio fue 38 en hombres y 57 en mujeres. Cardiopatía dilatada 26% en su mayoría asociado a CH. Insuficiencia valvular mitral leve en 47%, con predominio femenino, PR corto en 7 mujeres, fibrilación auricular 2 mujeres y 1 hombre, TPSV 1 mujer, BAV completo 1 hombre. Sin eventos coronarios. Conclusión: La afectación cardíaca en nuestro grupo es similar a la reportada internacionalmente. Dada la alta prevalencia que tiene esta patología en nuestro medio, frente a un paciente no hipertenso con hipertrofia ventricular debería descartarse EF. Evaluación dermatológica y oftalmológica apoyaría diagnóstico presuntivo antes de confirmación enzimática o estudio genético.

Resumen —La facomatosis pigmentovascular (FPV) es la coexistencia de un nevo vascular telangiectasico extenso y un nevo pigmentario asociado o no a compromiso sistemico. Se presenta el caso de una nina de 5 meses de edad que mostraba desde el nacimiento un nevo flameo extenso segmentario con detencion en la linea media asociado a una pigmentacion grisacea diseminada compatible con mancha mongolica aberrante, sin ninguna anomalia extracutanea. La FPV tipo IIa es uno de los tipos mas frecuentes que, al igual que otros tipos de FPV, probablemente se deba a un mecanismo de manchas gemelas no alelicas.

Background: Tuberculosis is uncommonly located in the skin, corresponding to 1 to 2% of extrapulmonary forms. We report a 61-year-old woman, referred due to a two months history of erythematous plaques covered with honey-colored crusts in the left preauricular region and below the chin. The lesions were previously treated as pyoderma with poor response. She was otherwise healthy, without any other symptom. Skin biopsy showed exudative tuberculoid granulomas with caseation necrosis. Koch culture was positive for Mycobacterium tuberculosis. Complementary studies ruled out other foci. Lupus vulgaris was diagnosed and antituberculous therapy started, achieving regression of cutaneous lesions.

Tuberculosis is uncommonly located in the skin, corresponding to 1 to 2% of extrapulmonary forms. We report a 61-year-old woman, referred due to a two months history of erythematous plaques covered with honey-colored crusts in the left preauricular region and below the chin. The lesions were previously treated as pyoderma with poor response. She was otherwise healthy, without any other symptom. Skin biopsy showed exudative tuberculoid granulomas with caseation necrosis. Koch culture was positive for Mycobacterium tuberculosis. Complementary studies ruled out other foci. Lupus vulgaris was diagnosed and antituberculous therapy started, achieving regression of cutaneous lesions.

There are many registries in Latin America as dialysis and kidney transplantation, breast cancer, primary immunodeficiency, acute coronary syndromes, but the focus here are the registries of lysosomal storage diseases (LSD) because is our experience. Registry of Gaucher disease, Fabry disease, Pompe disease, and mucopolysaccharidosis type I are comprehensive observational voluntary programs that aim to collect clinical and laboratory data of initiation, progression, and evolution of those diseases, with and without treatment, using questionnaires of quality of life and/or skills and functions. There are two more programs of LSD: Hunter outcome survey and Fabry outcome survey. The registries are a kind of phase IV clinical trials, postmarketing studies delineate additional information including the drug’s risks, benefits, and optimal use, and in addition we have data from natural history. The demographics of the Gaucher, Fabry, MPS I, and Pompe Registries show that a total of patients, being 16%, 8%, 15%, and 7%, respectively, of this population, and 19%, 19%, 18%, and 13%, respectively, of all physicians participating in the program are from Latin America. In the Gaucher Registry, we can observe that the percentage of children in Latin America (29%) is bigger than the rest of the world (20%), what can mean more severe disease in this population. These diseases are rare, and a database of clinical data from a larger number of patients gives us the opportunity to know about the natural history of these diseases, their phenotypic variability, and the response to specific enzyme replacement therapy in our population.

Resumen —La afectacion cutanea por M. tuberculosis supone el 1% de todas las formas extrapulmonares. Se presenta el caso de un varon de 55 anos con antecedente de probable tuberculosis pulmonar en la juventud que referia que le habian extirpado unas adenopatias cervicales 20 anos antes. Consulto por la aparicion de una placa eritematosa, lineal, de anos de evolucion, sobre la cicatriz quirurgica del cuello. A la exploracion fisica no presentaba adenopatias palpables, ni otras lesiones cutaneas. La biopsia cutanea mostro una inflamacion granulomatosa de tipo tuberculoide y las tinciones de acido peryodico de Schiff y Ziehl-Neelsen fueron negativas. En el cultivo del tejido crecio M. tuberculosis y el resto de estudios analiticos y radiologicos fueron normales o negativos. Con el diagnostico de lupus vulgar sobre cicatriz quirurgica se realizo tratamiento tuberculostatico, que condujo a la curacion de la lesion. Nuestro paciente presento un lupus vulgar limitado a la zona de la cicatriz de linfadenectomia que sugerimos ocurrio por diseminacion durante el acto quirurgico de extirpacion de adenopatias tuberculosas, que no fueron diagnosticadas en su momento.