Esclerosis múltiple familiar: estudio de seis familias
Introduction. Multiple sclerosis (MS) is a demyelinating disorder of the CNS, of autoimmune pathology and unknown aetiology. Several theories regarding its aetiology have been suggested, although none seems to be completely convincing. Genetically predisposed persons are affected, therefore groups of MS are seen in certain families. Objectives. To describe the family links, type of illness and evolution of 12 patients from six families with two or more members diagnosed as having MS, and to evaluate any differences from the other cases recorded in our data base. Patients and methods. We studied 12 patients diagnosed on the criteria of Poser, and with at least one first or second degree relation with MS. We compared clinical data, form of presentation and course with 127 patients recorded in the data base. Results. We describe six families: two homozygotic twins, two families in which transmission was from father to child and three families with first degree cousins affected. We found no clinical variation in the presentation, number of attacks or evolution, as compared with the other patients. Nor was there homogeneity between the familial forms of MS. Conclusions. Familial forms make up approximately 10% of the series. We do not have any data available for early diagnosis nor for prognostic significance of familial MS
Objetivos Describir los vínculos familiares, forma de la enfermedad y curso evolutivo de 12 pacientes pertenecientes a seis familias, en las que hay dos o más miembros diagnosticados de EM, así como valorar las posibles diferencias existentes con el total de casos recogidos en nuestra base de datos.
Pacientes y métodos Estudiamos a 12 pacientes diagnosticados de EM según los criterios de Poser, que cumplían la condición de tener, al menos, un familiar de primer o segundo grado afectado. Comparamos los datos clínicos, forma de presentación y curso evolutivo con el total de los 127 pacientes de la base de datos.
Resultados Presentamos seis familias: dos hermanos gemelos homocigóticos, dos familias con transmisión paterno-filial y tres familias con primos hermanos afectados. Noencontramos variabilidad clínica en la presentación, número de brotes ni en el curso evolutivo respecto al total de pacientes. Tampoco observamos homogeneidad entre las formas familiares de EM.
Conclusiones Las formas familiares suponen alrededor del 10% de las series, sin que dispongamos actualmente de datos para el diagnóstico precoz, ni de significado pronóstico en los casos de EM familiar
