Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia
Banjar H1*, Kadan H2, Al-Abdaly D3, Sheikh M3, Al-Kaf S3, Ghomraoui R4, AIDoss A3, Al-Eid M3
1Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, (KFSHRC), Riyadh, Saudi Arabia
2College of Medicine, Al-Faisal University, Riyadh, Saudi Arabia
3Biostatistics, Epidemiology, and Scientific Computing Department, King Faisal Specialist Hospital & Research Centre, (KFSHRC), Riyadh, Saudi Arabia
4Elm University of Dentistry and Pharmacy, Riyadh, Saudi Arabia
Corresponding Author: Hanaa Banjar, MD, FRCPC ORCID ID
Address: Professor of Pediatrics, Al-Faisal University, Consultant Pediatric Pulmonology, Department of Pediatrics, (KFSHRC). P.O.Box. 3354, MBC-58, Riyadh 11211, Saudi Arabia; Tel: +9661-442-7761; Fax No: +966-1-442-7784, +966-503493022; E-mail: email@example.com
Received date: 28 May 2020; Accepted date: 19 June 2020; Published date: 27 June 2020
Citation: Banjar H, Kadan H, Al-Abdaly D, Sheikh M, Al-Kaf S, Ghomraoui R, AIDoss A, Al-Eid M. Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia. Asp J Pediatrics Child Health. 2020 June 27;2(2):44-51.
Copyright © 2020 Banjar H, Kadan H, Al-Abdaly D, Sheikh M, Al-Kaf S, Ghomraoui R, AIDoss A, Al-Eid M. This is an open-access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium provided the original work is properly cited.
Keywords: Cystic Fibrosis, Epidemiology, Education, Socioeconomic Status, Consanguinity, Survival, Arabs
Introduction: Cystic Fibrosis has been reported before in almost all Arab countries with an incidence ranges from 1:2500- 1:7000. Presentations varied, but mainly due to recurrent chest infection and Pancreatic Insufficiency. Median survival has been far below North American countries. Delayed diagnosis and delayed management account for the low median survival.
Objectives: To present the demographic data of Cystic Fibrosis patients and their families, that involves their social status and education.
Methodology: A retrospective chart review as part of the Cystic Fibrosis registry data from the period January 1998 to December 2018. All confirmed CF patients of all age groups who contributed their demographic information were included and analyzed.
Results: A total of 430 confirmed Cystic Fibrosis patients. 236 (96%) patients survived, and 10 (4%) died. Two hundred and thirteen (49.5%) were males, and 217 (50.5%) were females. Eighty-three percent consanguinity rate. Forty-five had a family history of Cystic Fibrosis, and the diagnosis was suggested by family history in 9.5% of patients. 415 (98.1%) were of Saudi nationality. 156 (36.5%) were from the Eastern province. The mean age at diagnosis was 3.46 years (SD±5.547). Median survival around 22 years. Mean Sweat chloride was 92.04 mmol/ L (17.343). In reviewing the educational level of 247 patients, the level of elementary school accounted for 90 (36.1%) of patients, 24 (9.7%) of mothers, and 21 (8.5%) of fathers. Similarly, 43 (17.4%)/ 22 (8.9%)/ 102 (41.3%) were in the preparatory level, 35 (14.3%)/ 43 (17.4%)/ 51 (20.6%) were in the high school level, and 23 (9.3%)/ 39 (15.8%)/ 46 (18.6%) were in the college level, respectively. Regarding the employment: 145 (58.7%) patients are students, 3 (1.2%) are part-time employees, and 15 (6.0%) are full time employees. 207 (83.8%) mothers are housewives, 2 (0.8%) are students, and 29 (11.7%) have full-time employment. Paternal employment showed that 210 (85.0%) are full time, and 7 (2.8%) are part-time employees. Regarding their accommodation: 77 (31.2%) of Cystic Fibrosis parents owned a villa, 81 (32.8%) rented an apartment, and 79 (32%) owned their own apartment.
Conclusion: More than 2/3 of CF patients are students at the elementary school level, and only 6.0% have a full-time job, which makes them completely dependent on both parents for their care. Median survival improved from 8 years in 1984 to 22 years. Further efforts need to be applied to different aspects of care to further improve median survival.
Cystic fibrosis (CF) is an autosomal recessive disorder caused by a mutation in the gene encoding a protein which functions as a chloride channel . The chloride channel, cystic fibrosis transmembrane conductance regulator (CFTR) exists in the apical membrane of exocrine epithelial cells in the body. In the last 75 years, the survival of CF patients has risen dramatically from a few months to the average age of 45 years . The rise in life expectancy is due to several reasons: improved medical treatment, treating patients in specialized CF centers, early diagnosis, respiratory physiotherapy, and liver or lung transplantation .
Demographics, Incidence/Prevalence, Survival:
The prevalence of CF in Arab countries is estimated to range from 1:2,560 to 1:15000 [1,2] (Table-1), likely owing to ethnicity and the degree of consanguinity which is estimated at approximately 65% . In the UAE, the prevalence of CF was estimated to be 1 in 15,876 . The incidence rate of CF is 1 in 2500 live births in Jordan and 1 in 5000 live births in Bahrain [5-7]. The median survival in Arab countries is low, estimated at 10-20 years of age [1,2] (Table-1). In 2004, a study of 27 European (EU) countries showed that the mean prevalence of CF was 0.737 per 10,000  and a mean age of 45-50 years [9-12].
In a cross-sectional study, disease severity was inversely correlated with socioeconomic factors such as median household income by zip code and state insurance coverage. Patients with low socioeconomic status (SES), however, were treated more aggressively by healthcare providers who likely recognize those patients’ likelihood of worse disease outcomes. A 2011 study found that individuals of higher SES were more likely to die above the median survival age . Children of higher socioeconomic groups, living in upscale areas or with well-educated mothers, were more likely to be better informed on their disease and receive better healthcare at clinics . Oates et al. found that maternal college education, annual income >$50,000, and more adults in the household were independently correlated with better treatment adherence . Socioeconomically disadvantaged patients had limited access to specialist care centers in the UK . A literature review of demographics and the effect of social and economic status on the survival of CF populations from different countries around the world showed that it is of variable effect (Table-1) [14,16-23].
To present the demographic data of CF patients and their families, which involves their social status and education.
Retrospective Chart Review of all CF patients referred to CF clinic during the period from January 1998 to December 2018. Data on demographic, laboratory, educational, Employment, and social status levels of all CF patients and their parents were presented.
A patient with CF disease is defined as:
One who has typical pulmonary manifestations and/or typical gastrointestinal manifestations (GI) and/or a history of cystic fibrosis in the immediate family in addition to sweat chloride concentration >60 mmol/liter.
Pathologic CFTR mutations on both alleles.
One who has typical pulmonary and manifestations and borderline or normal sweat chloride (CL) level (30-60 mmol/L) and or pathologic CFTR mutations on both alleles.
Ethical considerations and Statistical Method:
After obtaining the ethical approval by the research advisory committee (or institutional review board, IRB). The Declaration of Helsinki and good clinical practice guidelines were followed. Data collection and data entry were supervised by the principal investigator. All data needed were obtained by retrospective chart review and were stored in a pediatrics research unit, accessed only by the principle investigator and the assigned Clinical Research Coordinator. The entire patient’s information kept strictly confidential. Each patient was given a study number, and all patients’ data were entered into the designated data sheet (EXCEL) without any patient’s identification. The department of Biostatistics Epidemiology and Scientific Computing (BESC) carried out statistical analysis of the data. The frequency of events was obtained by mean (SD), with simple descriptive analysis.
A total of 430 confirmed CF patients. 236 (96%) patients survived, and 10 (4%) died. 213 (49.5%) were males, and 217 (50.5%) were females. 83% consanguinity rate. 45% had a family history of CF, and the diagnosis was suggested by family history in 9.5% of patients. 415 (98.1%) were of Saudi nationality. 156 (36.5%) were from the Eastern province. The mean age at diagnosis was 3.46 years (5.5) which is improved compared to a previous study in 1998 (3.46 ±5.5 years VS 33 ± 40 months), which could be explained due to the increasing CF diagnosis during adult age groups (26-28). Mean Sweat chloride was 92.04 mmol/L (17.343). In reviewing the educational level of 247 patients, the level of elementary school accounted for 90 (36.1%) of patients, 24 (9.7%) of mothers, and 21 (8.5%) of fathers (Table-2). Similarly, 43 (17.3%)/ 22 (8.9%)/ 102 (41.3%) were in the preparatory level, 35 (14.1%)/ 43 (17.4%)/ 51 (20.6%) were in the high school level, and 23 (9.2%)/ 39 (15.8%)/ 46 (18.6%) were in the college level, respectively (Table-2). Regarding the employment: 145 (58.7%) patients are students, 3 (1.2%) are part-time employees, and 15 (6.0%) are full time employees. 207 (83.8%) mothers are housewives, 2 (0.8%) are students, and 29 (11.7%) have full time employment (Table-3). Paternal employment showed that 210 (85.0%) are full time, and 7 (2.8%) are part-time employees (Table-3). Regarding their accommodation: 77 (31.2%) of CF parents owned a villa, 81 (32.8%) rented an apartment, and 79 (32%) owned their own apartment (Table-4). The median survival around 22 years compared to 8 years in 1984 (Fig-1).
Our findings showed consistently similar results in all demographic data as the previous report from our center with a smaller CF population  as the following: more females have CF than males; however, the difference was not significant. The majority of patients are Arabian, predominantly Saudi citizens residing in the Eastern province [25,26]. The mean age at CF diagnosis has increased compared to a previous study in 1998 (3.46 ±5.5 years VS 33 ± 40 months), which could be explained due to the increasing CF diagnosis during adult age groups [25,26]. The median survival of 22 years is markedly improved compared to 8 years in 1984 as per our registry data (Fig-1) [1,25,26]. This finding indicates the improvement in medical care and the awareness improvement of physicians and medical staff.
The majority of patients are at the elementary school which leaves the patients almost entirely dependent on both parents for their care and fully dependent on their fathers alone for financial support. The majority of patients have the security of owning their accommodation; however, it can also call to question the relevance of conditions of their accommodation – location, climate, hygiene, etc. – which would require a further inquiry to better understand patients’ lifestyles.
Further efforts need to be applied to different aspects of care to improve survival to match other European or North American countries of 45-50 years [1,27,28]. Factors that need to be improved include Early diagnosis and referral to experienced centers, compliance of taking medications, chest physiotherapy, early Nutritional rehabilitation, and proper genetic counseling .
More than 2/3 of CF patients are students at the elementary school level, and only 6.0% have a full-time job, which makes them completely dependent on both parents for their care. Median survival improved from 8 years in 1984 to 22 years. More efforts need to be applied to different aspects of care to further improve median survival to parallel that of the European or North American data.
Conflict of Interest
All authors have read and approved the final version of the manuscript. The authors have no conflicts of interest to declare.
 WHO Human Genetics Programme. The molecular genetic epidemiology of cystic fibrosis: report of a joint meeting of WHO/IECFTN/ICF(M)A/ECFS, Genoa, Italy, 19 June 2002. World Health Organization; 2004. Available from: https://apps.who.int/iris/handle/10665/68702
 Frossard PM, Lestringant G, Girodon E, Goossens M, Dawson KP. Determination of the prevalence of cystic fibrosis in the United Arab Emirates by genetic carrier screening. Clin Genet. 1999 Jun;55(6):496-97. [PMID: 10450871]
 Singh M, Rebordosa C, Bernholz J, Sharma N. Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments. Respirology. 2015 Nov;20(8):1172-81. [PMID: 26437683]
 Salvatore D, Buzzetti R, Baldo E, Furnari ML, Lucidi V, Manunza D, Marinelli I, Messore B, Neri AS, Raia V, Mastella G. An overview of international literature from cystic fibrosis registries. Part 4: update 2011. J Cyst Fibros. 2012 Dec;11(6):480-93. [PMID: 22884375]
 Mehta G, Macek M Jr, Mehta A; European Registry Working Group. Cystic fibrosis across Europe: EuroCareCF analysis of demographic data from 35 countries. J Cyst Fibros. 2010 Dec;9 Suppl 2:S5-S21. [PMID: 21041121]
 McCormick J, Mehta G, Olesen HV, Viviani L, Macek M Jr, Mehta A; European Registry Working Group. Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis. Lancet. 2010 Mar 20;375(9719):1007-13. [PMID: 20304245]
 Buzzetti R, Salvatore D, Baldo E, Forneris MP, Lucidi V, Manunza D, Marinelli I, Messore B, Neri AS, Raia V, Furnari ML, Mastella G. An overview of international literature from cystic fibrosis registries: 1. Mortality and survival studies in cystic fibrosis. J Cyst Fibros. 2009 Jul;8(4):229-37. [PMID: 19419909]
 Barr HL, Britton J, Smyth AR, Fogarty AW. Association between socioeconomic status, sex, and age at death from cystic fibrosis in England and Wales (1959 to 2008): cross sectional study. Version 2. BMJ. 2011 Aug 23;343:d4662. [PMID: 21862532]
 Schechter MS, McColley SA, Silva S, Haselkorn T, Konstan MW, Wagener JS; Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis; North American Scientific Advisory Group for ESCF. Association of socioeconomic status with the use of chronic therapies and healthcare utilization in children with cystic fibrosis. J Pediatr. 2009 Nov;155(5):634-39.e1-4. [PMID: 19608199]
 Bell SC, Bye PT, Cooper PJ, Martin AJ, McKay KO, Robinson PJ, Ryan GF, Sims GC. Cystic fibrosis in Australia, 2009: results from a data registry. Med J Aust. 2011 Oct 3;195(7):396-400. [PMID: 21978347]
 Watts KD, Seshadri R, Sullivan C, McColley SA. Increased prevalence of risk factors for morbidity and mortality in the US Hispanic CF population. Pediatr Pulmonol. 2009 Jun;44(6):594-601. [PMID: 19437506]
 Stephenson A, Hux J, Tullis E, Austin PC, Corey M, Ray J. Socioeconomic status and risk of hospitalization among individuals with cystic fibrosis in Ontario, Canada. Pediatr Pulmonol. 2011 Apr;46(4):376-84. [PMID: 20967840]
 O’Connor GT, Quinton HB, Kneeland T, Kahn R, Lever T, Maddock J, Robichaud P, Detzer M, Swartz DR. Median household income and mortality rate in cystic fibrosis. Pediatrics. 2003 Apr;111(4 Pt 1):e333-39. [PMID: 12671148]
 Ong T, Schechter M, Yang J, Peng L, Emerson J, Gibson RL, Morgan W, Rosenfeld M; EPIC Study Group. Socioeconomic Status, Smoke Exposure, and Health Outcomes in Young Children With Cystic Fibrosis. Pediatrics. 2017 Feb;139(2):e20162730. [PMID: 28093464]
 Yan J, Cheng Y, Fine JP, Lai HJ. Uncovering symptom progression history from disease registry data with application to young cystic fibrosis patients. Biometrics. 2010 Jun;66(2):594-602. [PMID: 19522871]
 Quittner AL, Schechter MS, Rasouliyan L, Haselkorn T, Pasta DJ, Wagener JS. Impact of socioeconomic status, race, and ethnicity on quality of life in patients with cystic fibrosis in the United States. Chest. 2010 Mar;137(3):642-50. [PMID: 19820076]
 Goldbeck L, Besier T, Hinz A, Singer S, Quittner AL; TIDES Group. Prevalence of symptoms of anxiety and depression in German patients with cystic fibrosis. Chest. 2010 Oct;138(4):929-36. [PMID: 20472857]
 Banjar H, Mogarri I. Demographic and clinical data of cystic fibrosis (CF) patients in a tertiary care center in Saudi Arabia. Emirates Medical Journal. 1998 Dec;16(3):166-69.
 Banjar H. Overview of cystic fibrosis patients aged 1-12 years in a tertiary care center in Saudi Arabia. middle East Paediatr. 1999;4:44-50.
 Banjar H, Al-Mogarri I, Nizami I, Al-Haider S, AlMaghamsi T, Alkaf S, Al-Enazi A, Moghrabi N. Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia. International Journal of Pediatrics and Adolescent Medicine. 2019 Dec 10.
 Stephenson AL, Tom M, Berthiaume Y, Singer LG, Aaron SD, Whitmore GA, Stanojevic S. A contemporary survival analysis of individuals with cystic fibrosis: a cohort study. Eur Respir J. 2015 Mar;45(3):670-79. [PMID: 25395034]
 MacKenzie T, Gifford AH, Sabadosa KA, Quinton HB, Knapp EA, Goss CH, Marshall BC. Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: survival analysis of the Cystic Fibrosis Foundation patient registry. Ann Intern Med. 2014 Aug 19;161(4):233-41. [PMID: 25133359]