Cystic Fibrosis (CF) : Who Has It
Cystic Fibrosis (CF) : Who Has It
Cystic Fibrosis (CF) : Who Has It
Cystic Fibrosis (CF) is a lifelong, hereditary disease that causes thick, sticky mucus to form in the lungs, pancreas, and other organs . In the lungs, this mucus blocks the airways, causing lung damage, making it hard to breathe, and leading to serious lung infections . In the pancreas, it clogs the pathways leading to the digestive system, interfering with proper digestion .1 In 90 percent of cystic fibrosis cases, the airways are affected .2
Who Has It
CF is the second most common life-shortening, inherited disorder occurring in childhood in the United States, after sickle cell anemia.3 Approximately 30,000 Americans have CF, and there are an estimated 1,000 new cases diagnosed each year.4 The overall birth prevalence of CF in the United States is 1 in 3,700 (Figure 1).5 It occurs equally in male and female babies and affects nearly every race.6 However, cystic fibrosis occurs most commonly among Figure 1: Estimated Cystic Fibrosis Prevalence Rates Caucasians of Northern European by Race and Ethnicity descent; an estimated 1 in 2,500 7 1/2,500 Caucasian births are affected. Caucasian More than 10 million Americans are unknowing, symptomless carriers of the defective cystic African American 1/15,100 fibrosis gene. In order to develop CF, an individual must inherit a Asian American or defective gene from each parent. Native Hawaiian/ 1/31,0001/100,000 Pacic Islander Each time two carriers of the 0.00000 0.00010 0.00020 0.00030 0.00040 defective gene conceive, there is a 0.00005 0.00015 0.00025 0.00035 25 percent chance that the child Source: CDC. Cystic Fibrosis Clinical Validity. September 10, 2007 will have CF. There is a 50 percent chance that the child will be a carrier of the gene, and 25 percent chance that the child will not have the gene at all. The odds remain the same with each child. The severity and symptoms of the disease vary considerably due to different mutations of the gene.8
Hispanic 1/13,500
Deaths
Between 1999 and 2006, 3,708 people in the U.S. died from cystic fibrosis. Most of these deaths were among Caucasians (3,355). The age-adjusted death rate among Caucasians (0.22 per 100,000) is much higher than that among other racial and ethnic groups (Figure 2).9
Survival
In the 1950s, few people with CF lived to go to elementary school. In 1985, the median survival age was about 25 years. In 2007, the predicted
American Lung Association State of Lung Disease in Diverse Communities 2010 41
survival age was 37.4 years. Thanks to dedicated researchers and earlier diagnosis, the age of survival for patients with CF continues to increase.10
0.25
Early identification of CF through newborn screening programs has led to improved survival, better lung function and growth with less intensive therapy, and reduced cost of therapy. So far, 37 states have adopted newborn screening programs.14 The sweat test remains the standard diagnostic test for cystic fibrosis. It measures the amount of salt in a childs sweat, with a high salt level indicating that a person has cystic fibrosis. Genetic testing is available for cystic fibrosis, but it does not detect all of the mutations that can cause the disease.15
Treatment
Though a cure for cystic fibrosis has yet to be developed, patients have a variety of options to treat their symptoms. Common treatments for those with CF include airway clearance techniques and medications to clear mucus from the lungs, prevention and management of infections, and proper nutrition.16
Cystic fibrosis is much more common among Caucasians than among African Americans. It is estimated that 1 in 15,100 African Americans are diagnosed with cystic fibrosis, compared to 1 in 2,500 Caucasians (Figure 1, above).17 In 2007, of the 24,511 patients in the Cystic Fibrosis Foundations Patient Registry,
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only 4.2 percent were African American;18 about 12 percent of the U.S. population is African American.19 Between 1999 and 2006, there were 131 deaths due to cystic fibrosis among African Americans. The age-adjusted death rate of 0.04 per 100,000 for this population was lower than most other racial and ethnic groups (Figure 2, above).20 The Delta F508 genetic mutation, the most common CF gene mutation, has been found in approximately 44 percent of African American individuals with clinically diagnosed cystic fibrosis. In comparison, it has been found in over 72 percent of Caucasians with CF.21
Hispanics/Latinos
Cystic fibrosis occurs in about 1 in 13,500 Hispanics, compared to 1 in 2,500 Caucasians (Figure 1, above).22 Only 6.8 percent of people in the Cystic Fibrosis Foundations 2007 Patient Registry were Hispanic,23 even though Hispanics represent 15.4 percent of the total population.24 There were 178 Hispanic deaths due to cystic fibrosis between 1999 and 2006, and age-adjusted rate of 0.05 per 100,000. This rate falls towards the lower end of rates for all racial and ethnic groups (Figure 2, above).25 The Delta F508 genetic mutation, the most common CF gene mutation, has been found in 54 percent of Hispanic individuals with clinically diagnosed cystic fibrosis, compared to over 72 percent among Caucasians with CF.26
Between 1999 and 2006, there were only 26 deaths due to cystic fibrosis among Native Americans and Alaska Natives. However, the ageadjusted rate for this population was second only to Caucasians at 0.12 per 100,000 (Figure 2, above).30
Resources
1 2 3 4 5 6 7 Cystic Fibrosis Foundation . Patient Registry 2007 Annual Report . September 2009 . Available at http://www . cff .org/research/ClinicalResearch/PatientRegistryReport/ . Accessed January 11, 2010 . Kleven DT, mcCudden CR, Willis mS . Cystic Fibrosis: Newborn Screening in America . Medical Laboratory Observer. July 2008: 40(7):16-27 . Centers for Disease Control and Prevention . Newborn Screening for Cystic Fibrosis . Morbidity and Mortality Weekly Report. October 15, 2004; 53(RR13):1-36 . Cystic Fibrosis Foundation . About Cystic Fibrosis: What you Need to Know . Available at http://www .cff .org/ AboutCF/ . Accessed January 11, 2010 . Centers for Disease Control and Prevention . Newborn Screening for Cystic Fibrosis . Morbidity and Mortality Weekly Report. October 15, 2004; 53(RR13):1-36 . Cystic Fibrosis Foundation . About Cystic Fibrosis: What you Need to Know . Available at http://www .cff .org/ AboutCF/ . Accessed January 11, 2010 . Centers for Disease Control and Prevention . National Office of Public Health Genomics . Cystic Fibrosis Clinical Validity . September 10, 2007 . Available at http://www .cdc .gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_21 . htm#21 . Accessed January 11, 2010 . Cystic Fibrosis Foundation . About Cystic Fibrosis: Frequently Asked Questions . October 2009 . Available at http://www .cff .org/AboutCF/Faqs/ . Accessed January 11, 2010 . Centers for Disease Control and Prevention . National Center for Health Statistics . CDC Wonder On-line Database, compiled from Compressed mortality File 1999-2006 Series 20 No 2L, 2009 . Accessed January 11, 2010 . Cystic Fibrosis Foundation . Patient Registry 2007 Annual Report . September 2009 . Available at http://www . cff .org/research/ClinicalResearch/PatientRegistryReport/ . Accessed January 11, 2010 . Cystic Fibrosis Foundation . About Cystic Fibrosis: Frequently Asked Questions . October 2009 . Available at http://www .cff .org/AboutCF/Faqs/ . Accessed January 11, 2010 . National Heart Lung and Blood Institute . Diseases and Conditions Index . Cystic Fibrosis: Signs and Symptoms . march 2009 . Available at http:/ /www .nhlbi .nih .gov/health/dci/Diseases/cf/cf_signs .html . Accessed January 11, 2010 . mayo Clinic . Diseases and Conditions . Cystic Fibrosis: Symptoms . march, 2008 . Available at http://www . mayoclinic .com/health/cystic-fibrosis/DS00287/DSECTION=symptoms . Accessed January 11, 2010 . Kleven DT, mcCudden CR, Willis mS . Cystic Fibrosis: Newborn Screening in America . Medical Laboratory Observer. July 2008: 40(7):16-27 . Cystic Fibrosis Foundation . About Cystic Fibrosis: Frequently Asked Questions . October 2009 . Available at http://www .cff .org/AboutCF/Faqs/ . Accessed January 11, 2010 . Cystic Fibrosis Foundation . Treatments: Therapies . November 2007 . Available at http://www .cff .org/ treatments/Therapies/ . Accessed January 11, 2010 . Centers for Disease Control and Prevention . National Office of Public Health Genomics . Cystic Fibrosis Clinical Validity . September 10, 2007 . Available at http://www .cdc .gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_21 . htm#21 . Accessed January 11, 2010 . Cystic Fibrosis Foundation . Patient Registry 2007 Annual Report . Available at http://www .cff .org/ UploadedFiles/research/ClinicalResearch/2007-Patient-Registry-Report .pdf . Accessed January 11, 2010 . U .S . Census Bureau . The 2010 Statistical Abstract . Population: Estimates and Projections by Age, Sex, Race/ Ethnicity . Table 6 . Available at http://www .census .gov/compendia/statab/cats/population/estimates_and_ projections_by_age_sex_raceethnicity .html . Accessed January 7, 2010 . Centers for Disease Control and Prevention . National Center for Health Statistics . CDC Wonder On-line Database, compiled from Compressed mortality File 1999-2006 Series 20 No 2L, 2009 . Accessed January 11, 2010 . Watson mS et al . Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of medical Genetics mutation Panel . Genetics in Medicine. Sept-Oct 2004; 6(5):387-91 . Centers for Disease Control and Prevention . National Office of Public Health Genomics . Cystic Fibrosis Clinical Validity . September 10, 2007 . Available at http://www .cdc .gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_21 . htm#21 . Accessed January 11, 2010 . Cystic Fibrosis Foundation . Patient Registry 2007 Annual Report . Available at http://www .cff .org/ UploadedFiles/research/ClinicalResearch/2007-Patient-Registry-Report .pdf . Accessed January 11, 2010 . U .S . Census Bureau . The 2010 Statistical Abstract . Population: Estimates and Projections by Age, Sex, Race/ Ethnicity . Table 6 . Available at http://www .census .gov/compendia/statab/cats/population/estimates_and_ projections_by_age_sex_raceethnicity .html . Accessed January 7, 2010 . Centers for Disease Control and Prevention . National Center for Health Statistics . CDC Wonder On-line Database, compiled from Compressed mortality File 1999-2006 Series 20 No 2L, 2009 . Accessed January 11, 2010 . Watson mS et al . Cystic Fibrosis Population Carrier Screening: 2004 Revision of American College of medical Genetics mutation Panel . Genetics in Medicine. Sept-Oct 2004; 6(5):387-91 . Centers for Disease Control and Prevention . National Office of Public Health Genomics . Cystic Fibrosis Clinical Validity . September 10, 2007 . Available at http://www .cdc .gov/genomics/gtesting/ACCE/FBR/CF/CFCliVal_21 . htm#21 . Accessed January 11, 2010 . Centers for Disease Control and Prevention . National Center for Health Statistics . CDC Wonder On-line Database, compiled from Compressed mortality File 1999-2006 Series 20 No 2L, 2009 . Accessed January 11, 2010 . National Heart Lung and Blood Institute . Diseases and Conditions Index . Cystic Fibrosis: Who Is At Risk . march 2009 . Available at http://www .nhlbi .nih .gov/health/dci/Diseases/cf/cf_risk .html . Accessed January 11, 2010 . Centers for Disease Control and Prevention . National Center for Health Statistics . CDC Wonder On-line Database, compiled from Compressed mortality File 1999-2006 Series 20 No 2L, 2009 . Accessed January 11, 2010 .
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