Assuntos
Aorta/patologia , Dispneia/etiologia , Doença de Erdheim-Chester/diagnóstico , Redução de Peso , Idoso , Comorbidade , Doença de Erdheim-Chester/complicações , Doença de Erdheim-Chester/epidemiologia , Humanos , Hiperuricemia/epidemiologia , Masculino , Insuficiência da Valva Mitral/epidemiologia , Hiperplasia Prostática/epidemiologiaRESUMO
Fundamento y objetivo: La enfermedad de Erdheim-Chester (EC) es una histiocitosis de células no-Langerhans que cursa con infiltración xantogranulomatosa multiorgánica por histiocitos CD68+/CD1a-. Se recogen las principales características de 12 pacientes diagnosticados de esta rara enfermedad. Pacientes y método: Se revisaron las historias clínicas y los hallazgos anatomopatológicos de 12 casos diagnosticados de enfermedad de EC en 7 hospitales terciarios de la península. Se consideró el diagnóstico de esta enfermedad ante un cuadro clínico compatible e infiltración tisular por histiocitos CD68+/CD1a-. Resultados: Se incluyó en el estudio a 12 pacientes, 7 varones, con una mediana de seguimiento de 36 meses (rango IQ: 20-84). La mediana de edad al inicio clínico de la enfermedad y en el momento del diagnóstico histológico fue de 49 (rango IQ: 28-61) y 56 años (37-62), respectivamente. En 6 casos se realizaron múltiples biopsias para poder llegar al diagnóstico, mientras que en 3 fue la revisión de las mismas piezas anatomopatológicas en un adecuado contexto de sospecha clínica lo que permitió el diagnóstico. Las manifestaciones neurológicas presentaron una asociación estadísticamente significativa con la mortalidad (p<0,05). La característica afectación ósea en forma de osteoesclerosis metadiafisaria de huesos largos se detectó en 9 casos. Conclusiones: La enfermedad de EC presenta una gran heterogeneidad en sus manifestaciones clínicas. Es preciso un alto índice de sospecha y una estrecha colaboración entre clínicos y patólogos para llegar al diagnóstico de esta enfermedad (AU)
Background and objective: Erdheim-Chester disease (EC) is a rare form of non-Langerhans cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC.Patients and methods: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. Results: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. Conclusion: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis (AU)
Assuntos
Humanos , Masculino , Feminino , Doença de Erdheim-Chester/epidemiologia , Doenças Raras/epidemiologia , Estudos Retrospectivos , Fibrose Retroperitoneal/patologia , Doenças da Hipófise/etiologia , Osteosclerose/etiologia , Orquite/etiologiaAssuntos
Acidose Láctica/etiologia , Caquexia/complicações , Síndrome de Abstinência a Substâncias/complicações , Deficiência de Tiamina/complicações , Acidose Láctica/tratamento farmacológico , Anorexia/induzido quimicamente , Anorexia/complicações , Astenia/induzido quimicamente , Astenia/complicações , Buprenorfina/efeitos adversos , Humanos , Masculino , Metadona/uso terapêutico , Pessoa de Meia-Idade , Neuralgia Pós-Herpética/complicações , Neuralgia Pós-Herpética/tratamento farmacológico , Transtornos Relacionados ao Uso de Opioides/complicações , Transtornos Relacionados ao Uso de Opioides/terapia , Tiamina/uso terapêutico , Deficiência de Tiamina/sangue , Deficiência de Tiamina/diagnóstico , Deficiência de Tiamina/tratamento farmacológicoRESUMO
BACKGROUND AND OBJECTIVE: Erdheim-Chester disease (EC) is a rare form of non-Langerhans' cell histiocytosis. It is characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a- histiocytes. We report a series of 12 patients diagnosed with EC. PATIENTS AND METHODS: We reviewed the clinical, pathological and therapeutic aspects of 12 cases diagnosed with EC at 7 tertiary teaching hospitals in Spain. Patients were included if tissue infiltration by histiocytes CD68+/CD1a- could be demonstrated in an appropriate clinical setting. RESULTS: Twelve patients (7 male) were included. Median follow-up was 36 months (IQR: 20-84). The median age at the time of clinical onset and pathological diagnosis was 49 (IQR: 28-61) and 56 years (IQR: 37-62), respectively. In 6 cases multiples biopsies were performed (skin, muscle, testicular) previous to diagnosis, which was confirmed in 3 cases after a carefully review of pathological tissues. Neurological involvement was independently associated with mortality (P<.05). Characteristic long bone osteosclerosis was detected in 9 patients. CONCLUSION: EC is a multisystemic and heterogeneous clinicopathological condition. A high index of suspicion and fluent communication between clinicians and pathologists is necessary to achieve a correct diagnosis.
