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Vol. 156. Issue 6.
Pages 270-276 (March 2021)
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Vol. 156. Issue 6.
Pages 270-276 (March 2021)
Original article
Effect of an awareness campaign on the diagnosis and clinical impact of primary immunodeficiency
Efecto de una campaña de concienciación en el diagnóstico e impacto clínico de la inmunodeficiencia primaria
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Lourdes Mateua,d, Aina Teniente-Serrab,d,e, Gemma Rocamoraa, Antoni Marin-Muñizf, Noemi Pàrragac,e, Irma Casasb,d,g, Esteban Reynagaa,d, Nieves Sopenaa,d, Miguel Sabriaa,d, María Luisa Pedro-Boteta,d,
Corresponding author
, members of the Committee for Primary Immunodeficiencies of the Hospital Germans Trias i Pujol
a Servicio de Enfermedades Infecciosas, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain
b Universitat Autònoma Barcelona, Departamento de Medicina, Barcelona, Spain
c CIBER Enfermedades Respiratorias, Madrid, Spain
d Institut de Recerca Germans Trias i Pujol, Barcelona, Spain
e Servicio de Inmunología, LCMN, Hospital Germans Trias i Pujol, Barcelona, Spain
f Servicio de Neumología, Hospital Germans Trias i Pujol, Barcelona, Spain
g Servicio de Medicina Preventiva, Hospital Germans Trias i Pujol, Barcelona, Spain
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Tables (5)
Table 1. Demographic data and underlying diseases.
Table 2. Classification of PID by antibody deficiencies according to the Registry of the European Society of Immunodeficiencies.
Table 3. Delay in diagnosis.
Table 4. Reason that led to the diagnosis.
Table 5. Clinical manifestations, lung involvement and ability to generate antibodies at PID diagnosis.
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Abstract
Background and objectives

Predominantly antibody deficiencies are the most prevalent primary immunodeficiency (PID) in adults. These are rare diseases difficult to diagnose. Therefore, they are diagnosed late. This study aims to evaluate whether an awareness campaign of PIDs among physicians is associated with an increase in number of diagnoses, a reduction in diagnostic delay and diagnosis at earlier stages.

Patients and methods

A single centre, interventional, quasi-experimental study was designed that included 2 periods, period 1 pre-intervention (1986–2008) and period 2 post-intervention (2009–2018). A descriptive comparative study of variables was carried out in both periods.

Results

116 patients were included [27 (23.3%) in period 1 and 89 (76.7%) in period 2]. The incidence rate increased significantly (0.204 and 1.236/100,000habs./year; p<0.05), the diagnosis delay tended to be lower (4 vs. 3.73 years). The reasons for diagnostic suspicion were diverse and the burden disease at diagnosis (expressed by bronchiectasis, altered spirometry, ability to generate antibodies by thymus-independent mechanism and need for substitute treatment) tended to decrease in period 2.

Conclusions

Given the potentially serious complications of patients with late diagnosis of PIDs, it is necessary to create specialised multidisciplinary units, to unify assistance protocols and to design interventions to increase the knowledge of these entities.

Keywords:
Immunodeficiency
Immunoglobulin
Antibodies
Resumen
Antecedentes y objetivo

Las deficiencias predominantemente de anticuerpos constituyen, en la actualidad, el grupo de inmunodeficiencias primarias (IDP) más prevalente en adultos. Son enfermedades complejas desde el punto de vista clínico, catalogadas como minoritarias y que tienen a menudo un retraso inaceptable en su diagnóstico. El objetivo de este estudio fue evaluar si un mejor conocimiento de estas entidades podía conllevar un incremento en el número de diagnósticos, una reducción en el intervalo al diagnóstico y, por ende, una disminución en la carga de enfermedad al diagnóstico.

Pacientes y métodos

Se diseñó un estudio de intervención casi experimental y Unicentro, que incluyó dos períodos, período 1 preintervención (1986-2008) y período 2 postintervención (2009-2018). Se efectuó un estudio descriptivo comparativo de diversas variables en ambos períodos.

Resultados

Se incluyeron 116 pacientes [27 (23,3%) en el período 1 y 89 (76,7%) en el período 2]. La tasa de incidencia aumentó de forma significativa (0,204 y 1,236/100.000 habs./año; P < 0,05), el retraso en el diagnóstico tendió a ser menor (4 vs. 3,73 años), los motivos de sospecha diagnóstica se diversificaron y la carga de enfermedad al diagnóstico (expresada por bronquiectasias, espirometría alterada, capacidad de generar anticuerpos por mecanismo timo-independiente y necesidad de tratamiento substitutivo) tendió a disminuir en el período 2.

Conclusiones

Dadas las complicaciones potencialmente graves de los pacientes con diagnóstico tardío de IDP, es necesaria la creación de unidades multidisciplinarias especializadas, la unificación de protocolos asistenciales y el diseño de intervenciones para la divulgación de esta entidad.

Palabras clave:
Inmunodeficiencia
Inmunoglobulina
Anticuerpos

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