RESUMO
BACKGROUND: In addition to the deleterious effect on health, there is considerable economic and psychosocial morbidity associated with primary immunodeficiency diseases (PID). Also, the cost of a late diagnosis frequently results in a heavy disease burden on the patient. The objective of this study was to collect and analyze data on patients with PID in the state of Guanajuato in Mexico, to indirectly estimate the burden of the disease. METHODS: An observational, longitudinal, and comparative study was conducted. A total of 44 patients were included and grouped according to the updated classification of PID. RESULTS: The median time elapsed from the onset of symptoms to the reference and diagnosis by a tertiary hospital was of 2.17 (IQR = 6.44) years. Before diagnosis, the number of hospitalizations/year per patient was 0.86 (IQR = 2.28), the number of visit to emergency room/year per patient was 0.92 (IQR = 1.77), the number of doctor's visits/year per patient was 15 (IQR = 11.25), whereas the school/work absence days per patient were reported in 52.72 (IQR = 56.35) days per year. After diagnosis, 20 patients (45.45%) received IVIG replacement therapy, and all of them presented a significant improvement (p <0.05) in all the mentioned variables. Characteristically, even when patients with PID received IVIG, there was still an important disease burden when comparing them against healthy controls. Complications secondary to PID were detected in 19 patients (43.18%). The reported overall mortality rate was 6.82% (n = 3). CONCLUSIONS: We were able to indirectly estimate an important disease burden in patients with PID; which is considered to be preventable, at least in part, with effective interventions like health planning, research, collaboration with primary care providers, and generation of policies and practices, in order to improve the quality of life and care of families with PID.
Assuntos
Efeitos Psicossociais da Doença , Síndromes de Imunodeficiência/economia , Adolescente , Adulto , Estudos de Casos e Controles , Criança , Pré-Escolar , Serviço Hospitalar de Emergência , Feminino , Hospitalização , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/tratamento farmacológico , Síndromes de Imunodeficiência/mortalidade , Lactente , Estudos Longitudinais , Masculino , México , Taxa de Sobrevida , Centros de Atenção Terciária , Adulto JovemRESUMO
Hemophagocytic syndrome is characterized by increased proliferation and activation of antigen presenting cells (histiocytes) in bone marrow and other organs of the reticuloendothelial system as well as CD8+ T cells that threatens life of patients. The predominant clinical manifestations such as fever, cytopenia, hepatitis, coagulopathy, neurological symptoms and multiple organ failure are related to systemic inflammation. We report the case of an infant who started with jaundice, abdominal pain, vomiting and malaise, at admission, hepatomegaly, splenomegaly and biochemically with features suggestive of hepatocellular inflammation and progressive cholestasis with poor outcome, it was added persistent fever, seizures, anemia, thrombocytopenia, leukopenia, elevated ferritin and hypertriglyceridemia integrating hemophagocytic syndrome with fatal outcome despite immunosuppressive therapy.
El síndrome hemofagocítico se distingue por la proliferación y activación de células presentadoras de antígeno en la médula ósea y otros órganos del sistema retículo endotelial, así como de linfocitos T CD8+ que ponen en peligro la vida de los pacientes. Las manifestaciones clínicas predominantes, como fiebre, citopenias, hepatitis, coagulopatía, síntomas neurológicos e insuficiencia orgánica múltiple están relacionadas con inflamación sistémica. Comunicamos el caso de un lactante que inició su padecimiento con ictericia, dolor abdominal, vómito, ataque al estado general, hepatomegalia, esplenomegalia y características bioquímicas sugerentes de inflamación hepatocelular y colestasis progresiva con mala evolución clínica; al cuadro se agregó fiebre persistente, crisis convulsivas, anemia, trombocitopenia, leucopenia, ferritina y triglicéridos elevados, que integraron síndrome hemofagocítico con desenlace fatal a pesar de recibir tratamiento inmunosupresor.