Validity of Primary Immunodeficiency Disease Diagnoses in United States Medicaid Data

Abstract

Algorithms comprising PID ICD-9 diagnoses and procedures for quantitative immunoglobulin tests and immunoglobulin infusion had low PPVs for adjudicated diagnoses in Medicaid. Alternative data sources should be evaluated to study the epidemiology of these diseases.

Latent therapeutic demand model for the immunoglobulin replacement therapy of primary immune deficiency disorders in the USA

“… (13·94 per 100 000) and (30·01 per 100 000), while the rest of the data came from registries that were under‐reported and clustered around 1·0 per 100 000. It is of importance to note that epidemiology studies based on individual ICD‐9 codes to identify PIDD diagnoses might inadvertently overestimate the true prevalence of the specific diagnosis, as individual ICD‐9 codes alone have a low positive predictive value for confirmed PIDD diagnoses . Additionally, prevalence for each of the PIDDs was missing in some of the databases.…”

“…It is difficult to model LTD for PIDDs due to the lack of data and uncertainty surrounding the epidemiology of these rare disorders and their treatment . To account for this uncertainty, we use methods from decision analysis .…”

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency

“…Positive predictive values of clinical algorithms for identifying PAD range from 19.1% in patients with hypogammaglobulinemia to 33.3% in patients with a CSR defect presenting hyper-IgM syndrome in the Medicaid database [24], indicating the necessity of a correct genetic diagnosis. Besides confirming the clinical diagnosis, molecular diagnosis also plays a pivotal in the identification of new genetic defects, pre-symptomatic diagnosis, treatment decisions, prognosis prediction and family counseling [25].…”

Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment

“…Further, the average time from symptom onset to diagnosis ranges from 4.0 to 12.4 years [2, 5] (depending upon the method of the population surveyed); this delay in diagnosis may primarily reflect patients with CVID (accounting for 63% of the PIDD diagnoses in this survey) who present uniformly across the age continuum and are diagnosed at all ages [6]. The incidence of CVID is therefore likely underreported, with patients often misdiagnosed or undiagnosed [7, 8]. Increasing educational efforts and awareness have potentially resulted in increasing prevalence of the disorders [9].…”