Shorter Diagnostic Delay in Polish Adult Patients With Common Variable Immunodeficiency and Symptom Onset After 1999

Abstract

Common variable immunodeficiency (CVID) is the most clinically significant primary antibody immunodeficiency recognized in adulthood. Previously published data have shown an average diagnostic delay of 10 years for Polish adult patients with CVID. In the current study, we aimed to analyze the current diagnostic delay of adult patients with CVID in Poland. To this end, we identified patients from four immunological centers specialized in the care of adult patients with primary immunodeficiencies (PID). Demographic and clinical data of patients were collected using an internet database. We identified 103 adult patients (F:M 44.7%:55.3%) in Poland with CVID. The median age at onset of symptoms was 24 (0-66), 33 (4-70) at diagnosis, and 37 (18-73) years at the time of analysis. The median diagnostic delay for the entire study population was 6 (0-57) years. However, this delay was higher in patients with symptom onset before the year 2000 than after the year 1999 [15 (0-57) vs. 3 (0-19) years; p < 0.001]. Comparing patients (median ≤ 6 years, N = 53) with short diagnostic delay (SDD) and those (median > 6 years, N = 50) with long diagnostic delay (LDD), the LDD group had a statistically significant higher incidence of infections of the lower respiratory tract before diagnosis (90.0 vs. 71.70%). During the entire observation period, cytopenias (44.00 vs. 22.64%), granulomatous lesions (28.00 vs. 11.32%), and solid tumors (14.00 vs. 1.89%) were significantly more frequent in the LDD group. In conclusion, we found a significant reduction in the median diagnostic delay in Polish CVID patients with disease onset in the last two decades.

From infections to autoimmunity: Diagnostic challenges in common variable immunodeficiency

“…CVID prevalence ranges from 2/100000 to the highest reported prevalence for Finland – 6.9/100000[ 5 ]. The median age at which the first symptoms occurred in a case series of Polish patients is 24 years[ 6 ], in Italy and Denmark 32 and 29 years[ 7 ], respectively, while in the 2018 European Society of Immune Deficiencies (ESID) registry the figure is 18 years[ 3 ]. A recent study from the United States reported 24 and 28 years as the median age of onset for females and males, respectively[ 8 ].…”

“…A recent study from the United States reported 24 and 28 years as the median age of onset for females and males, respectively[ 8 ]. Some studies report bimodal age distribution[ 6 , 9 ] where others, reported linear distribution, with decline after the age of 80[ 10 ]. In Germany, the highest percentage of patients experience the first symptoms of CVID between 1 and 5 years, followed by a markedly lower peak incidence at the age of 16–20 years[ 11 ].…”

“…However it was significantly shorter in patients diagnosed before age 18: 5.22 years compared to 11.63 years for patients diagnosed in adulthood (age ≥ 18), despite similar clinical phenotypes in children and adults[ 14 ]. At present, in Poland, CVID diagnosis is more rapid than that before 2000[ 6 ]. However, there remains a low percentage of patients whose diagnosis was established within a year of occurrence of the first symptoms[ 6 ].…”

“…At present, in Poland, CVID diagnosis is more rapid than that before 2000[ 6 ]. However, there remains a low percentage of patients whose diagnosis was established within a year of occurrence of the first symptoms[ 6 ]. According to the 2014 ESID registry, a significant shortening of the median delay was achieved only in Spain (9.0 vs 4.6 years)[ 2 ].…”

“…It is difficult to compare data coming from different countries and studies, due to different methodology applied for analysis. In our experience, a significant increase in number of diagnosed CVID cases occurred when reimbursement of subcutaneous immunoglobulin treatment for adult patients with primary immunodeficiency was provided and specialized immunology centers established[ 6 , 14 ].…”