ORIGINAL ARTICLE
Incidence and Temporal Trends of Primary Immunodeficiency: A Population-Based Cohort Study

https://doi.org/10.4065/84.1.16Get rights and content

OBJECTIVE

To determine the incidence and temporal trends of primary immunodeficiency diseases (PIDs) and examine whether an association exists between delayed diagnosis and increased morbidity.

PATIENTS AND METHODS

We performed a historical cohort study to describe the epidemiology of PIDs in Olmsted County, Minnesota, during a 31-year period from January 1, 1976, through December 31, 2006, using the Rochester Epidemiology Project. Incidence and trends over time, presence of comorbid conditions, and trends in management were determined.

RESULTS

During the 31-year study period, 158 new cases of PIDs were diagnosed, with an overall incidence rate of 4.6 per 100,000 person-years. The rate of PIDs from 2001 through 2006 (10.3 per 100,000 person-years) was nearly 5 times higher than that from 1976 through 1980 (2.4 per 100,000 person-years). The associations between continuous variable(s) and categorical outcome(s) were assessed by using the Wilcoxon rank sum test. Longer delay in diagnosis was significantly associated with recurrent sinusitis (P<.001), recurrent pneumonia (P=.03), and subsequent treatment with immunoglobulins (P<.001). On the basis of Kaplan-Meier survival estimates, the proportion of patients surviving at 10 years after diagnosis was 93.5% (95% confidence interval, 85.9%-97.1%). However, older age at diagnosis was significantly associated with mortality (P=.01).

CONCLUSION

This is one of the first population-based studies to examine the temporal trends of PIDs. The incidence of PIDs increased markedly between 1976 and 2006. In this cohort, a delay in diagnosis was common and was associated with increased morbidity. Despite substantial morbidity, most patients with PIDs can expect a normal life span.

Section snippets

PATIENTS AND METHODS

Epidemiological research in Olmsted County, Minnesota (2000 US Census population, 124,277), is optimized by the county's relative isolation from other urban centers and the delivery of nearly all medical care to county residents by a small number of health care provider groups. With the exception of a higher proportion of the working population employed in the health care industry, the characteristics of the population of Olmsted County are similar to those of US whites (Figure 1).14

Since 1907,

RESULTS

Review of the 513 records with diagnostic codes related to PIDs revealed 158 incident (31%) and 14 prevalent (3%) cases of PIDs.

The study population was predominantly white (166; 97%), with 4 cases seen among African Americans (3%) and 1 case each from patients of Asian and Hispanic heritage. The median age of the population was 25 years (interquartile range, 4-51 years), and 93 (54%) of the patients were female.

Accurate information on the principal provider of longitudinal care for PIDs was

DISCUSSION

Although some data are available regarding the prevalence of PIDs, the current study is the first, to our knowledge, to study their incidence.

We found an overall incidence of 4.6 cases of PIDs per 100,000 person-years, and these incidence rates did not differ by sex. We also found an increasing temporal trend in incidence rates during the past 31 years, with a rate of 10.3 per 100,000 person-years rate in 2000-2006 compared with 2.4 per 100,000 person-years in 1976-1980. Incidence rates were

CONCLUSION

With the first-ever population-based study on the incidence of PIDs, we have found that the diagnosis of PID increased during the past 3 decades. We also found that a delay in diagnosis was associated with increased morbidity. Such epidemiological data are crucial if we are to raise the awareness of the medical community about PIDs. With the newborn screen for some types of PIDs (eg, severe combined immunodeficiency) on the horizon, we need epidemiological data to support the public health

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    This study was made possible by the Rochester Epidemiology Project (grant R01 AR30582).

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