Cystic Fibrosis PPT PRESENTATION PATHOPHYSIOLOGY EIDEMICS, TREATMENT

Cystic Fibrosis PPT PRESENTATION PATHOPHYSIOLOGY EIDEMICS, TREATMENT

1. UNDERSTANDING CYSTIC FIBROSIS Dema Abushaar Biology foe Science Majors I Prof Guerrero 11/04/2019 DISEASE

2. TABLE OF CONTENTS 1. ABOUT THE DISEASE Brief overview of Cystic Fibrosis (CF) Genetic link 2. SYMPTOMS & DIAGNOSIS Symptoms Diagnosis 3. TREATMENT OPTIONS Treatment Therapies 4. PROGNOSIS Prognosis Life Expectancy Quality of life 5. OCCURENCE Occurrence Prevalence 6. CONCLUSIONS Summary of key points Future Directions

3. INTRODUCTION Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs (Cystic Fibrosis Foundation, 2024). Alternative names: Cystic fibrosis of pancreas Fibrocystic disease of pancreas Mucoviscidosis It is one of the most common chronic lungs disease in children and young adults. Brief Overview

4. GENETIC BASIS Gene Linked: Cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7. Mutations in the CFTR gene lead to dysfunctional chloride ion channels, resulting in thick, sticky mucus production in various organs (Brice et al., 2007).

5. SYMPTOMS OF THE DISEASE Salty-tasting skin Troubled breathing Lung Infections Greasy stools Weigh loss/poor growth Meconium ileus Respiratory Infections Recurrent sinus infections.

6. DIAGNOSIS NEWBORN SCREENING It involves taking blood from a heel prick and placing it on a Guthrie card to look for conditions like CF. SWEAT TEST PRE-NATAL TEST CLINICAL EVALUATION Measure chloride levels in the body's sweat, which is higher in people with CF Blood samples are tested for the genes that cause CF. NPD tests use a voltmeter and electrodes to measure electricity generated by ion transfer across nasal tissue. Source: (Cleveland Clinic, 2021)

7. PREVENTION Prevention of cystic fibrosis isn't possible as it is an inherited genetic disorder. However, these steps can help : Genetic Counseling: Seek guidance before family planning to understand the risk of passing on CFTR gene mutations (Cleveland Clinic, 2021). Carrier Testing: Couples can undergo testing to assess CFTR gene mutations, enabling informed reproductive decisions (Cleveland Clinic, 2021). Early diagnosis through newborn screening and advancements in treatment are crucial for managing cystic fibrosis

8. TREATMENT DESCRIPTION SHORT TERM LONG TERM Combination medications Antibiotics, Anti-inflammatory medications, Inhaled medications etc. Gene targeting medications CFTR modulators target the CFTR protein to improve its function Airway clearance therapies Airway clearance techniques (CPT) are used to thin out mucus production Pulmonary therapies Daily activities designed to loosen mucus and aid breathing Surgery & other techniques Nasal surgeries, oxygen therapy, ventilation, feeding tubes, and liver transplants Source: ( NewYork -Presbyterian Hospital, 2024)

9. PROGNOSIS QUALITY OF LIFE Quality of life can vary depending on disease severity and individual factors, but many people with CF are able to lead fulfilling lives with appropriate management LIFE EXPECTANCY Prognosis for individuals with CF has improved significantly over the years due to advances in treatment and care (Cystic Fibrosis Foundation, 2024). According to Cystic Fibrosis Foundation(2024), more than half of people born with CF between 2015 and 2019 are expected to live to age 46 or longer. However, CF remains a life-limiting condition, with median survival age increasing to around 40 years

10. RISK FACTORS Source: (Cystic Fibrosis Foundation, 2020). Approximately 80-90% of CF patients experience chronic respiratory infections INFECTIONS 60-70% Obstructions in the airways occur in around 20-30% of CF cases. OBSTRUCTIONS 25% Each time two CF carriers have a child, the chances are 25 percent (1 in 4) the child will have CF CARRIER FREQUENCY 20-30%

11. PREVALENCE In the United States, the prevalence of cystic fibrosis is estimated to be approximately 40,000 individuals in 2020 (Cromwell et al., 2023). OVERALL Incidence rates among different ethnic groups in the US: Asian-Americans: One per 31,000 births African-Americans: One per 15,000 births Hispanics: One per 9,500 births (Brice et al., 2007) ETHNIC GROUPS

12. KEY NUMBERS 40,000 There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries) (Cystic Fibrosis Foundation, 2020). 1,000 More than 75 percent of people with CF are diagnosed by age 2 105,000 75%+ Approximately 1,000 new cases of CF are diagnosed each year.

13. RECOMMENDATIONS WHAT TO DO WHAT NOT TO DO Follow a comprehensive treatment plan prescribed by your healthcare provider Stay hydrated by drinking plenty of fluids Engage in regular physical activity Adhere to infection control measures Avoid smoking and exposure to secondhand smoke You can describe what the patient shouldn’t do here Don't skip doses of prescribed medications Avoid high-risk activities or environments Don't disregard symptoms or changes in your health status

14. CONCLUSIONS 1. KEY POINTS CF is a complex genetic disorder affecting the lungs and digestive system. Early diagnosis and comprehensive care are crucial for managing symptoms and improving quality of life. Advances in treatment, including CFTR modulator therapies, offer hope for better outcomes for individuals with CF. 2. FUTURE DIRECTIONS The impact of CF extends beyond the individual, affecting families and caregivers. Support organizations play a vital role in providing resources, advocacy, and funding for research to advance treatments and enhance the quality of life for those living with CF.

15. REFERENCES Brice, P., Jarrett, J. P., & Mugford , M. (2007). Genetic screening for cystic fibrosis: An overview of the science and the economics . Journal of Cystic Fibrosis (Print), 6 (4), 255–261. https://doi.org/10.1016/j.jcf.2007.02.002 Cleveland Clinic. (2021). Cystic fibrosis . Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/9358-cystic-fibrosis#outlook-prognosis Cromwell, E. A., Ostrenga , J., Todd, J., Elbert, A., Brown, A., Faro, A., Goss, C. H., & Marshall, B. C. (2023). Cystic fibrosis prevalence in the United States and participation in the Cystic Fibrosis Foundation Patient Registry in 2020. Journal of Cystic Fibrosis (Print), 22 (3), 436–442. https://doi.org/10.1016/j.jcf.2023.02.009 Cystic Fibrosis Foundation. (2020). About Cystic Fibrosis . Cystic Fibrosis Foundation. https://www.cff.org/intro-cf/about-cystic-fibrosis Cystic Fibrosis Foundation. (2024). Understanding changes in life expectancy . Cystic Fibrosis Foundation. https://www.cff.org/managing-cf/understanding-changes-life-expectancy NewYork -Presbyterian. (2024). Cystic Fibrosis (CF): Diagnosis & Treatment . NewYork -Presbyterian. https://www.nyp.org/pediatrics/pulmonology/cystic-fibrosis/treatment#treatment