Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

Introduction: Cystic Fibrosis has been reported before in almost all Arab countries with an incidence ranges from 1:25001:7000. 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


Introduction
Cystic fibrosis (CF) is an autosomal recessive disorder caused by a mutation in the gene encoding a protein which functions as a chloride channel [1]. 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 [1]. 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 [1].

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% [3]. In the UAE, the prevalence of CF was estimated to be 1 in 15,876 [4]. The incidence rate of CF is 1 in 2500 live births in Jordan and 1 in 5000 live births in Bahrain [5][6][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 [8] and a mean age of 45-50 years [9][10][11][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 [13]. 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 [14]. 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 [15]. Socioeconomically disadvantaged patients had limited access to specialist care centers in the UK [13]. 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][17][18][19][20][21][22][23].

Objectives
To present the demographic data of CF patients and their families, which involves their social status and education.

Methodology
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.

Definitions:
A patient with CF disease is defined as: 1. 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. 2. Pathologic CFTR mutations on both alleles. 3. 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.

Discussion
Our findings showed consistently similar results in all demographic data as the previous report from our center with a smaller CF population [24] 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 [1].

Conclusion
More than 2/3 of CF patients are students at the elementary school level, and only 6.0% have a fulltime 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.