Health Status and Sociodemographic Characteristics of Adults Receiving a Cystic Fibrosis Diagnosis After Age 18 Years

doi:10.1378/chest.118.2.427

Chest

Volume 118, Issue 2, August 2000, Pages 427-433

https://doi.org/10.1378/chest.118.2.427 Get rights and content

Objectives

An increasing percentage of cystic fibrosis (CF) diagnoses are occurring in adulthood. The purpose of this study was to explore how age at diagnosis may be associated with selected disease and sociodemographic characteristics.

Design

The 1996 Cystic Fibrosis Foundation (CFF) Patient Registry data were analyzed to test for associations between age at diagnosis and selected variables. All cases involved individuals ≥ 18 years who were represented in the CFF Patient Registry for 1996. Patients were assigned to one of two groups: those diagnosed with CF after age 18 years (n = 786) and those diagnosed before 18 years (n = 6,641).

Results

In 1996, the incidence of late diagnosis was 7.8%, and the prevalence was 10.9%. The mean age of late diagnosis was 27 years. Respiratory symptoms most frequently led to late diagnosis. Patients receiving a late CF diagnosis were less likely to have alleles for Delta F508. There was no correlation between age at diagnosis and percent predicted FEV₁, although patients in the late-diagnosis group were an average of 10 years older than those in the early-diagnosis group. Late diagnosis was associated with fewer complications, fewer hospitalizations, less oxygen use, fewer courses of home IV treatment, and less enzyme use. Women were most often diagnosed late. Men displayed more diversity in conditions leading to diagnosis. Psychosocially, those patients receiving late diagnoses were more likely to be college graduates, married, and employed full time. For those adults who died in 1996, there was a positive association between their age at diagnosis and age at death.

Conclusion

Those patients diagnosed with CF as adults differ, both medically and psychosocially, from those diagnosed at a younger age; these differences have implications for diagnosis, treatment, and education.

Section snippets

Incidence and Prevalence of Late Diagnosis in CF

Some statistical models estimate the incidence of CF relative to live births among whites as 1:3,419, and among nonwhites as 1:12,163.¹ The Cystic Fibrosis Foundation (CFF) maintains a registry of all patients seen at CFF-accredited care centers in the United States. In 1997, 4% of the 20,999 known patients had received their diagnoses as adults, and 918 new diagnoses of CF were reported, 65 of which (7%) were in men and women > 18 years of age. Among those patients aged ≥ 18 years in 1997,

History and Background

The first adult CF diagnosis was made in 1946.⁴ Since that time, a number of case studies of adults receiving a diagnosis of CF have appeared in the literature, with most published prior to the discovery of the CF gene. Their explanations for late diagnosis include the following: mild expression of the disease⁵⁶; unusual presentations⁷; and the common perception of CF as a disease exclusive to childhood.⁸⁹ Currently, missed diagnoses are more commonly attributed to the varied phenotypic

Relevant Literature

Although CF medical caregivers anecdotally note that their patients who have received a late diagnosis have unique concerns, there have been few attempts to systematically describe this subpopulation of CF adults or to explore the issues that appear to be associated with late diagnosis. In a qualitative study of the phenomenon, Widerman¹¹ found that her 36 subjects attributed their“ missed” diagnoses to the following: physician error; mild or atypical symptoms; psychological factors (eg,

Purpose

Although a late diagnosis of CF suggests milder disease and a longer than expected life span, there are no published data documenting differences, if any, in the health statuses and salient CF and demographic descriptors of those patients receiving diagnoses as adults.

The purpose of this study was to analyze the 1996 CFF Annual Registry data for the following reasons: (1) to determine how, if at all, men and women receiving a diagnosis of CF after age 18 differed from adults receiving a

Materials and Methods

Approval was obtained from the CFF to analyze their 1996 Patient Registry data (released in Fall 1997), which were the most recent data available when the study was undertaken (n = 20,886). These data represent responses to two-page questionnaires completed and submitted annually by accredited CFF centers. Demographic, diagnostic, genetic, mortality, health status, and other related variables are assessed for each patient seen within the preceding 2 years.

The data were transferred to a

Incidence and Prevalence of Adult Diagnosis in 1996

According to the 1996 CFF Registry summary data, there were 7,435 individuals with CF who were ≥ 18 years of age in the United States (data available for 7,427), representing 35.6% of the CFF Registry adult cases. Of those, 813 individuals (10.9%) had received diagnoses at ≥ 18 years of age (data available for 786). Among individuals receiving new diagnoses that year, 71 (7.8%) received diagnoses at age≥ 18 years of age.

Sociodemographic Description

There were significant relationships between age at diagnosis and the

CF Characteristics/Health Status

Genotype: Over 60% (62.34%) of those patients in group AD had been genotyped, while 49.63% of those in group ED had been genotyped (p = 0.001). For those patients genotyped, Table 4 illustrates the significant association between age at diagnosis and the presence of the most common mutation associated with CF, Delta F508.

Significantly higher percentages of patients in group AD than in group ED were either heterozygous for Delta F508 or did not carry the allele (85.31% vs 51.30%, respectively).

Discussion

The results of this study suggest that those patients who received diagnoses of CF as adults are a unique subgroup of adults with CF. Adults who received diagnoses late, as represented in the 1996 CFF Registry, were more likely to be college graduates, employed full time, and married. They experience fewer complications, culture higher rates of normal flora, and live longer than do those who receive diagnoses under age 18 years. The average age at diagnosis of group AD in this study (27 years)

Implications of Study

CF caregivers need to be aware that adults who receive late diagnoses of CF have unique characteristics that suggest unique needs in terms of education, treatment, and support. Psychosocially, those who receive diagnoses as adults must come to terms with having a life-threatening disease and must reconcile CF treatment and care with the demands of established lifestyles. Educationally, they are likely to require assistance applying CF information grounded in the conditions of those receiving

ACKNOWLEDGMENTS

The authors acknowledge Barbara Palys, Chairperson, International Association of CF Adults, for her assistance in editing and guiding the study from the perspective of those receiving late diagnoses of CF. Roslyn Goren, MA, Manager, Statistical Applications, Temple University, provided invaluable statistical consultation and guidance. The support of the CFF for generously sharing the Patient Registry Data is also greatly appreciated.

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Cited by (60)

Impact of loss to follow-up on survival estimation for cystic fibrosis
2023, Annals of Epidemiology
Deaths among those lost to follow-up (LTFU) in the Cystic Fibrosis Foundation Patient Registry (CFFPR) are critically important to the epidemiology of cystic fibrosis (CF). Unreported deaths could impact estimates of survival if LTFU is associated with disease trajectory.
We characterized the LTFU population (1986-2017) from the CFFPR and identified deaths via linkage with the National Death Index (NDI). Median predicted survival age and conditional survival were estimated with and without additional deaths and person-time from the NDI.
Of the 10,582 individuals LTFU in the CFFPR, 2,460 (23.2%) matched to an NDI death record. Individuals who died after LTFU with a CF diagnosis were 43% female, 91% White/non-Hispanic, 59% had advanced CF lung disease based on last CFFPR recorded forced expiratory volume in one second (FEV₁) %predicted <40 and 18% were post-lung transplant. Median predicted survival age during the most recent period available, 2013-2017, increased from 44.3 years (95% CI: 43.2, 45.7) to 45.8 years (95% CI 44.5, 47.1) with the inclusion of NDI data.
Inclusion of deaths and additional person-time among those LTFU changed the point estimate of median predicted survival for most time periods and increased the point estimate from 2009 onwards.
Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020
2023, Journal of Cystic Fibrosis
The Cystic Fibrosis Foundation Patient Registry (CFFPR) collects data on individuals with cystic fibrosis (CF) in the United States (US). In 2012, the US CF population was estimated at 33,292 to 34,327 individuals, with 81-84% CFFPR participation.
In this study, we update these estimates via simulation to account for uncertainty in CF incidence by race or Hispanic ethnicity, initiation of CF newborn screening (NBS) programs by state, and updated cumulative survival for CF births 1968-2020. We defined registry participation as the proportion of individuals alive as of 2020 with any prior CFFPR participation as well as the proportion with contributing data in 2019 or 2020; we summarize CFFPR participation for those born prior to 1968.
We estimated the 2020 prevalent CF population between 1968-2020 to be 38,804 (95% Uncertainty Interval (UI): 38,532 to 39,065) individuals, with 77% of the prevalent CF population contributing recent data. CFFPR participation differs by age (54% of those born in 1968) and exceeds >90% of the population born in 2009 or later.
We demonstrate that the CFFPR remains a valid data source generalizable to the CF population. High participation among younger individuals may reflect the success of newborn screening programs and early referral to CF care. If engagement can be sustained, the percentage of individuals participating in the CFFPR will grow over time and there is an opportunity to identify factors associated with loss to follow up among older individuals to optimize the quality of the CFFPR data.
How are the ancient cystic fibrosis patients? Cystic fibrosis diagnosed over 60 years-old
2017, Respiratory Medicine Case Reports
Citation Excerpt :
Until recently, cystic fibrosis (CF) had been considered a childhood disease. Therapeutic advances and specialist units have contributed towards this disease ceasing to be lethal in childhood [1–3]. However, although current survival time can exceed 40 years, mostly in the case of patients from pediatric units, a diagnosis at over 40 years of age is still unusual, but the possibility of diagnosis at over 60 years of age still exists [4,5].
To specify the prevalence of patients diagnosed with CF at age of ≥60 year-old and to analyze their characteristics.
Observational study of CF patients which were diagnosed at age ≥60 year-old. The analyzed variables were: age, sex, nationality, lung function parameters, conditions present at diagnosis, microbiological characteristics and genetic findings.
eight patients were included. 7 patients were female (87.5%) with a mean age of 70.6 years (median 71.5 years, range 60–78 years). The most important findings were: sweat test >60 mEq/l; heterozygotes F508del; bronchiectasis in CT; methicillin-sensitive Staphylococcus aureus (50%) in sputum. The most patients presented a normal or mild obstructive lung function.
CF must also be considered a disease diagnosed in adulthood, incorporating the sweat test within the usual techniques of differential diagnosis in patients with different diseases associated with CF, because genetic counselling is esencial.
Cystic fibrosis - Comparison between patients in paediatric and adult age
2017, Revista Portuguesa de Pneumologia (English Edition)
Citation Excerpt :
We have found that patients presenting in adulthood appear to be different to patients presenting in childhood. Research has established that, as a group, those diagnosed as adults have variable and atypical presentations, and often have milder disease,22,23 better, long-term prognosis,23,24 better lung function, higher rates of pancreatic sufficiency, fewer complications, and longer life expectancy than adults diagnosed in childhood.24–26 There is a growing need to identify differences between the groups but there are no published data in Portugal.
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Although most cases are diagnosed in childhood, diagnosis in adults is apparently increasing.
Evaluate the adult population with CF, comparing patients who were diagnosed before and after 18 years of age.
Retrospective analysis of patients followed in three main medical centres in Portugal in 2012. Comparison of two groups: G1 – patients diagnosed at <18 years and G2 – patients diagnosed at ≥18 years.
89 adults were identified: 61.8% in G1, 38.2% in G2. Gender distribution was similar in both groups. Average age in G2 was higher (38.3 ± 8.4 vs. 26.8 ± 6.1 years, p < 0.001). Respiratory symptoms most frequently led to CF diagnosis in all patients, mainly in adulthood. There was a greater percentage of patients homozygous for the mutation delF508 in G1 (43.6 vs. 8.8%, p = 0.02). Respiratory and pancreatic function, and body mass index (BMI) showed a higher severity in G1 (G1 vs. G2: FEV1: 54.6 ± 27.3 vs. 29.9 ± 64.6%, p = 0.177; pancreatic insufficiency 72.7 vs. 26.5%, p < 0.001; BMI 20.2 ± 3.4 vs. 22.2 ± 4.8, p = 0.018). Pseudomonas aeruginosa and methicillin-sensitive Staphylococcus aureus were the most frequently isolated microorganisms. Lung transplantation rate was higher in G2 (20.6 vs. 10.9%, p = 0.231) while mortality rate was higher in G1 (0 vs. 3.6%, p = 0.261). Hospital admission rate was higher in G1 as well as mortality rate.
The results suggest that patients with CF diagnosed in childhood have characteristics that distinguish them from those diagnosed in adulthood, and these differences may have implications for diagnosis, prognosis and life expectancy.
Reduced survival in adult cystic fibrosis despite attenuated lung function decline
2017, Journal of Cystic Fibrosis
Citation Excerpt :
However, on making this diagnosis of “atypical CF”, practitioners are often faced with the question of disease progression and life expectancy. A 1996 CFF Registry study by Widerman, et al. found a higher death rate among early diagnosis (≤ 17 years) as compared with a later diagnosis (27.4 years versus 41.8 years) [4]. An analysis of long term survivors of CF (defined as alive at age greater than 40 regardless of age at diagnosis) by Nick, et al. found that patients diagnosed at ≥ 18 years of age had similar rate of lung function decline as those diagnosed during childhood (e.g. < 10 years of age).
There is limited data on disease progression and survival in adult diagnosis cystic fibrosis (CF). This study evaluates change of lung function over time and rates of death/lung transplant in adult diagnosis CF.
The CF Foundation Patient Registry was reviewed for patients diagnosed 1993–2003. Rate of FEV1 decline was calculated up to 2010 for age groups 6–11, 12–17, and 18 and above. Kaplan Meier method was used for 10 and 15 year survival rate calculations for patients diagnosed as adults. Cox Proportional hazards models using predictors affecting disease progression and survival without transplant were run.
Between 1993 and 2003, 11,884 patients were diagnosed with CF, of which 2848 were ages 6 and older. Annual rate of change of FEV1% predicted over 5 years differed by diagnosis age group: − 1.42% per year for ages 6–11, − 2.04% for ages 12–17 and − 1.13% for ages 18–65 (p < 0.0001). Pseudomonas aeruginosa infection was associated with faster rates of lung function decline in all age groups. Survival without transplant for CF patients diagnosed at ≥ 18 years were 76% and 65% by 10 and 15 years, respectively. Of adults with FEV1 of > 70% predicted at diagnosis, 95% were alive without transplant at 10 years, whereas of those with FEV1 < 40% predicted at diagnosis, 31% were alive without transplant at 10 years.
Lung function declines at a slower rate in adult diagnosis CF. However, particularly in those with low lung function at diagnosis, rates of death or transplant in adult diagnosis CF after 10 and 15 years is not negligible.
Diagnosis of Adult Patients with Cystic Fibrosis
2016, Clinics in Chest Medicine
Citation Excerpt :
The most important features are discussed here. Respiratory symptoms are the most common feature leading to the adult CF diagnosis.2,11,13,31–33 Bronchiectasis is usually present and is easily detected by high-resolution computed tomography (CT) scanning.

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Chest

Clinical Investigations: Cystic FibrosisHealth Status and Sociodemographic Characteristics of Adults Receiving a Cystic Fibrosis Diagnosis After Age 18 Years

Objectives

Design

Results

Conclusion

Section snippets

Incidence and Prevalence of Late Diagnosis in CF

History and Background

Relevant Literature

Purpose

Materials and Methods

Incidence and Prevalence of Adult Diagnosis in 1996

Sociodemographic Description

CF Characteristics/Health Status

Discussion

Implications of Study

ACKNOWLEDGMENTS

Am J Med

The incidence of cystic fibrosis

Stat Med

Patient registry 1997 annual data report

Patient registry 1994 annual data report

Cystic fibrosis of the pancreas in an adult

Ohio Med J

Acute presentation of cystic fibrosis in an adult

Postgrad Med J

Newly diagnosed cystic fibrosis in middle and later life

Thorax

Cystic fibrosis in an adult

Emerg Med

Cystic fibrosis in adults

J Miss State Med Assoc

Mucoviscidosis discovered after the age of 25 years

Gastroenterol Clin Biol

When I got CF. Experiencing a diagnosis of CF after age 20. implications for health education and patient support (dissertation)

Clinical Investigations: Cystic Fibrosis
Health Status and Sociodemographic Characteristics of Adults Receiving a Cystic Fibrosis Diagnosis After Age 18 Years