Cyctic Fibrosis Definition
A genetic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene that affects the cells that produce mucus, sweat and digestive juices so that, instead of secreting lubricants that promote biological function, these cells, especially in the lungs and pancreas, secrete thick, sticky fluids that clog tubes, ducts and passageways.
Etiology[1]
The human genome contains two copies of the CFTR gene.
Signs/Symptoms[2]
Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.
People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system and digestive system. However, adults diagnosed with cystic fibrosis are more likely to have atypical symptoms, such as recurring bouts of inflamed pancreas (pancreatitis), infertility and recurring pneumonia.
Respiratory signs and symptoms
A persistent cough that produces thick mucus (sputum)
Wheezing
Breathlessness
Exercise intolerance
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Digestive signs and symptoms
Foul-smelling, greasy stools
Poor weight gain and growth
Intestinal blockage, particularly in newborns (meconium ileus)
Severe constipation
GI Manifestations[3]
gastroesophageal reflux,
small intestinal bacterial overgrowth
intussusception
meconium ileus
distal intestinal obstruction syndrome
appendicitis
fibrosing colonopathy
gastrointestinal cancer
Risk Factors[4]
Family history
Race:
Approximate US CFTR gene mutation carriers:
1 in 29 Caucasian-Americans
1 in 46 Hispanic-Americans
1 in 65 African-Americans
1 in 90 Asian-Americans
Approximate CF-Race correlation in the US:
1 in 2,500-3,500 Caucasian-Americans
1 in 4,000-10,000 Hispanic-Americans
1 in 15,000-20,000 African-Americans
1 in 100,000 Asian-Americans
Treatment
Because CF has so many pulmonary and gastrointestinal manifestations, treatment is always personalized and continually adjusted according to the disease progression.
Medications[5]
Besides medications necessary for treating the manifestations of CF, since 2012, some drugs known as CFTR modulators has been available to treat the root cause of CF. The three types of modulators are potentiators (e.g., ivacaftor), correctors (e.g., tezacaftor), and amplifiers (remain in R&D). The Cystic Fibrosis Foundation is encouraged by the potential of the next generation of CFTR modulators. However, until curative medication is developed, mucus thinners (e.g., dornase alfa, hypertonic saline) and anti-inflammatories (e.g., ibuprofen) remain therapeutically necessary and are the subject of further research and clinical trials.
Massage Therapy
Benefits
Research to date supports the use of Complementary and Alternative Medicine (CAM), including Massage Therapy (MT). However, the research also illustrates the need for additional research that meets rigorous standards of research practice.[6] For example, CF patients and their families who report CAM benefits are not likely to enlist professional CAM practitioners.[7] A common outcome that has surprised researchers is that family members of CF patients who receive MT also reported significant reduction of stress, anxiety, and musculoskeletal pain even though they did not receive MT themselves.
Risks
Although the base pathology of CF is not immunosuppressive, some patients are treated with induced immunosuppression.[8] Therefore, the main contraindication for MT in CF patients is the potential for the therapist to infect the client.
[1] https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-Cystic-Fibrosis/
[2] https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
[3] Stephanie Demeyer, Kris De Boeck, Peter Witters, Katrien Cosaert, “Beyond pancreatic insufficiency and liver disease in cystic fibrosis,” Eur J Pediatr (2016) 175:881–894 (DOI 10.1007/s00431-016-2719-5)
[4] G.E. Palomaki, S.C. Fitzsimmons, J.E. Haddow, “Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population,” Genet Med. (Sep-Oct 2004) 6.5:405-414.
[5] https://www.cff.org/Research/Developing-New-Treatments/CFTR-Modulator-Types/
[6] Myra Martz Huth, Kathleen A. Zink, Naomi R. Van Horn, “The Effects of Massage Therapy in Improving Outcomes for Youth with Cystic Fibrosis: An Evidence Review,” Ped Nursing (July-August 2005) 31.4:328-332
[7] Ana Tanase, MD and Robert Zanni, MD, “The Use of Complementary and Alternative Medicine Among Pediatric Cystic Fibrosis Patients,” J Alt & Comp Med. 2008 14 (10):1271-1273.
[8] Stephen Kirby, Brian Whitson, et al. “Survival benefit of induction immunosuppression in cystic fibrosis lung transplant recipients,” Jour Cystic Fibrosis 14 (2015) 104–110.