Examining the use of ICD-9 diagnosis codes for primary immune deficiency diseases in New York State.

PURPOSE: To use International Classification of Disease Codes (ICD-9) codes to investigate primary immune deficiency (PID) in New York State. METHODS: We investigated the diagnosis of Primary Immune Deficiency (PID) in New York State (NYS) using the Statewide Planning and Research Cooperative System (SPARCS) database, a comprehensive data reporting system that collects ICD-9 codes for each patient hospitalized in NYS. RESULTS: From 2000-2004 there were 13,539,358 hospitalizations for 4,777,295 patients; of these, 2,361 patients (0.05 %) were diagnosed with one or more of the ICD-9 codes for PID. Antibody defects were the most common diagnoses made. The PID population had significantly more Caucasians, and fewer African American or Hispanic subjects compared to the general population. Subjects with PID codes were younger, had longer hospitalizations, were less likely to have Medicare and more likely to have Medicaid or Blue Cross insurance. Most hospitalizations were due to respiratory and infectious diseases. Most patients resided in the most populous counties, Kings, New York and Queens, but the distribution of home zip codes was not proportional to county populations. CONCLUSIONS: These data provide useful information on incidence and complications of selected PID diagnoses in one large state.

The many faces of the clinical picture of common variable immune deficiency.

PURPOSE OF REVIEW: To summarize the recent advancements in common variable immune deficiency (CVID), specifically CVID genetics, clinical discoveries and treatment implications. RECENT FINDINGS: Large genomic studies have implicated new genes in the pathogenesis of CVID, and basic science studies have contributed to our knowledge of potential mechanisms. Cohort studies have further defined the immunologic parameters and clinical presentation of CVID, as well as the factors that contribute to morbidity and mortality in this disease. Immunoglobulin remains the mainstay of treatment, although there may be a role for immunosuppression and other therapies. SUMMARY: CVID is a genotypically and phenotypically heterogeneous primary immune deficiency, the genetic and clinical characteristics of which are under active investigation. Further, discovery may yield important new treatment protocols that can continue to reduce the morbidity and mortality from this disease.

Morbidity and mortality in common variable immune deficiency over 4 decades.

The demographics, immunologic parameters, medical complications, and mortality statistics from 473 subjects with common variable immune deficiency followed over 4 decades in New York were analyzed. Median immunoglobulin levels were IgG, 246 mg/dL; IgA, 8 mg/dL; and IgM, 21 mg/dL; 22.6% had an IgG less than 100 mg/dL. Males were diagnosed earlier (median age, 30 years) than females (median age, 33.5 years; P = .004). Ninety-four percent of patients had a history of infections; 68% also had noninfectious complications: hematologic or organ-specific autoimmunity, 28.6%; chronic lung disease, 28.5%; bronchiectasis, 11.2%; gastrointestinal inflammatory disease, 15.4%; malabsorption, 5.9%; granulomatous disease, 9.7%; liver diseases and hepatitis, 9.1%; lymphoma, 8.2%; or other cancers, 7.0%. Females had higher baseline serum IgM (P = .009) and were more likely to develop lymphoma (P = .04); 19.6% of patients died, a significantly shorter survival than age- and sex-matched population controls (P < .0001). Reduced survival was associated with age at diagnosis, lower baseline IgG, higher IgM, and fewer peripheral B cells. The risk of death was 11 times higher for patients with noninfectious complications (hazard ratio = 10.95; P < .0001). Mortality was associated with lymphoma, any form of hepatitis, functional or structural lung impairment, and gastrointestinal disease with or without malabsorption, but not with bronchiectasis, autoimmunity, other cancers, granulomatous disease, or previous splenectomy.

Perspectives on common variable immune deficiency.

Common variable immunodeficiency (CVID) is considered to be a collection of genetic immune defects with complex inheritance patterns. While the main phenotype is loss of B cell function, the majority of the genetic mechanisms leading to CVID remain elusive. In the past two decades there have been increasing efforts to unravel the genetic defects in CVID. Here, we provide an overview of our current understanding of the genetic basis of these defects, as revealed over time by earlier linkage studies in large cohorts, analysis of families with recessive inheritance, targeted gene approaches, and genome-wide association studies using single nucleotide polymorphism arrays and copy number variation, and whole genome studies.

Development of a questionnaire to measure quality of life in adolescents with food allergy: the FAQL-teen.

BACKGROUND: Living with food allergies affects quality of life (QOL) and may be particularly problematic for teenagers. OBJECTIVE: To develop a validated food allergy QOL assessment tool for US adolescents (FAQL-teen). METHODS: Initial items were developed through expert opinion, literature review, and adolescent focus groups, resulting in an 88-question impact assessment questionnaire. This questionnaire was completed by 52 adolescents for effect scoring; final instrument questions were determined through analysis of effect scores. The final 17-item instrument was completed by 203 participants aged 13 to 19 years via an Internet link on the Food Allergy & Anaphylaxis Network Web site and via paper surveys distributed at a Food Allergy & Anaphylaxis Network conference. Items were scored on a 7-point Likert scale: 0 corresponded to "not troubled/limited," 3 to "moderately troubled/limited," and 6 to "extremely troubled/limited." RESULTS: Areas most troubling included limitations on social activities (score, 2.7), not being able to eat what others were eating (score, 2.7), and limited choice of restaurants (score, 3.9). Instrument validation steps showed strong internal validity (Cronbach α = .9). The instrument discriminated by disease severity: adolescents with a history of anaphylaxis had significantly lower QOL (higher scores) than did those without a history of anaphylaxis (P = .003). CONCLUSIONS: While developing a food allergy QOL assessment tool for US adolescents (FAQL-teen), we identified multiple social and emotional concerns that could be targeted for adolescent counseling. This instrument is internally valid and has the ability to discriminate, making it a useful tool in adolescent food allergy studies.

Complementary therapy in allergic rhinitis.

The term complementary/alternative medicine (CAM) refers to those therapeutic and diagnostic approaches different from conventional allopathic medicine. CAM may encompass homeopathy, acupuncture, phytotherapy, antioxidant therapy, and numerous holistic or behavioral techniques. Allergists and physicians of all disciplines are confronted with patients using CAM treatments, making it imperative that they become familiar with the scientific literature surrounding them. Given the high prevalence of allergic diseases and associated costs of CAM treatments, proof of CAM therapies is needed to establish appropriate guidelines for their use. Efficacy of CAM modalities should be established with randomized, double-blind, placebo-controlled trials, including adverse-effects monitoring. Of all the CAM therapies examined to treat allergic rhinitis, some herbal therapies and antioxidants demonstrate a trend toward some clinical efficacy. Researchers have yet to determine how to integrate these CAM modalities into the general treatment paradigm of allergic rhinitis.