HOME HELP CONTACT US FEEDBACK SUBSCRIPTIONS CURRENT ISSUE PAST ISSUES SEARCH		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Résumé Full Text Full Text (PDF) Rapid Responses: Submit a response Alert me when this article is cited Alert me when Rapid Responses are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Steinraths, M. Articles by Davidson, A. G. F. Search for Related Content PubMed PubMed Citation Articles by Steinraths, M. Articles by Davidson, A. G. F. Related Collections Résumés de recherche

Delays in diagnosing cystic fibrosis

Can we find ways to diagnose it earlier?

Hilary D. Vallance, MD FRCPC
Head of the Biochemical Genetics Laboratory and the C.H. Wills Newborn Screening Laboratory at the BC Children’s Hospital in Vancouver

A. George F. Davidson, MD FRCPC
Professor Emeritus in the Department of Pediatrics at the University of British Columbia and Director of the cystic fibrosis clinic at the BC Children’s Hospital

Correspondence to: Dr A. George Davidson, BC Children’s Hospital, Pediatrics/Cystic Fibrosis, 4480 Oak St, Room K3-205, Vancouver, BC V5H 3V4; telephone 604 875-2628; fax 604 875-2349; e-mailgdavidson{at}cw.bc.ca

OBJECTIVE To describe the clinical presentation and delays in diagnosis of patients with cystic fibrosis (CF) with the goal of raising physicians’ awareness of CF and establishing baseline data for comparison with outcomes of patients who undergo newborn screening for CF.

DESIGN Retrospective review of hospital medical records and CF clinic charts of newly diagnosed CF patients younger than 18 years who had attended the CF clinic at the BC Children’s Hospital in Vancouver between January 1, 1993, and January 1, 2005. Age at diagnosis of CF was ascertained for 24 adult patients diagnosed during the same period from the CF clinic at St Paul’s Hospital in Vancouver, BC.

SETTING Cystic fibrosis clinic at the BC Children’s Hospital.

PARTICIPANTS All newly diagnosed CF patients from mainland BC and northern Vancouver Island (N = 122).

MAIN OUTCOME MEASURES Mean age at diagnosis; mean delay in diagnosis; weight and height or length at diagnosis; vitamin E status; mean head circumference; types of symptoms before diagnosis; Pseudomonas aeruginosa status; and number of days spent in tertiary care hospitals before diagnosis.

RESULTS Excluding the adult patients and patients with meconium ileus, mean age at diagnosis of CF was 3.6 years, and mean delay in diagnosis after first symptoms was 2.1 years. Weight at diagnosis was 5th percentile in 37% of cases, and height or length was 5th percentile in 26% of cases. Excluding those with meconium ileus and those taking vitamin E supplementation, 70% of the children were vitamin E deficient at diagnosis. These children had a mean head circumference substantially smaller than that of children who had adequate levels of vitamin E. About 95% of children had gastrointestinal (GI) or malnutrition symptoms before diagnosis; 15% had GI symptoms only. About 81% of patients had respiratory symptoms, but only 4% had respiratory symptoms as the only evidence of CF before diagnosis. Around 9% were colonized with P aeruginosa at diagnosis. Before being diagnosed, 79% of patients had required tertiary care hospitalization for a group total of 320 hospital days.

CONCLUSION Considerable delays in diagnosis of children with CF occur when the disease is identified solely on clinical presentation. Morbidity is often severe enough to require hospital admission before CF is diagnosed. Symptoms that occurred before diagnosis were often GI or malnutritional in nature rather than respiratory, but all such symptoms were associated with diagnostic delays.