Cystic fibrosis natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Malnutrition and poor growth (due to loss of pancreatic exocrine function) leads to death in the first decade of life for most untreated patients. The most significant complications are seen in airways (responsible for 80% of mortality) and most common chronic pulmonary infection include P. aeruginosa, S. aureus and H. influenzae. In cystic fibrosis 98% of men are infertile due to aspermia. Lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality in these patients and gastrointestinal complications include pancreatic insufficiency, pancreatitis, gastroesophageal reflux disease, distal intestinal obstuction syndrome, constipation and small intestinal bacterial overgrowth. In cystic fibrosis, obstructive lung disease and other lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality. At present time survival probability of children is 40-50 years. Women with cystic fibrosis have a shortened life expectancy compared to men.
Natural History
- If patients with cystic fibrosis left untreated, they would present with failure to thrive and/or steatorrhea during infancy. Also this would typically progress to hypoproteinemia, edema, and severe cachexia.[1]
- Malnutrition and poor growth (due to loss of pancreatic exocrine function) leads to death in the first decade of life for most untreated patients.[2]
Complications
Lung involvement:
In patients with cystic fibrosis the most significant changes and complications are seen in the airways. The primary genetic defect eventually causes chronic pulmonary infections. P. aeruginosa is the most common infection, followed by S. aureus and H. influenzae.[3][4]
- Infancy: the most common bacteria cultured is S. aureus along with H. influenzae recently increased during childhood
- Adolescence and young adulthood: the commonest pathogen cultured is P. aeruginosa
Other lung complications of cystic fibrosis include:[5]
Gastrointestinal involvement:
In cystic fibrosis, approximately 90% of patients present with exocrine pancreatic insufficiency. Pancreatic insufficiency leads to maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition include permanent stunting of stature, cognitive dysfunction (due to vitamin E deficiency) and more rapid decline in pulmonary function. Other gastrointestinal complications related to cystic fibrosis include:[5][6][7]
- Pancreatitis
- Gastroesophageal reflux disease
- Distal intestinal obstuction syndrome
- Obstipation/constipation
- Small intestinal bacterial overgrowth
- Steatosis
- Cholelithiasis
- Meconium ileus
- Malabsorption (vitamin malabsorption may cause hemolytic anemia and defective coagulation)
Endocrine system invovement:
Endocrine complications related to cystic fibrosis include:[5]
Others
- Salt-loss syndromes (acute salt depletion, chronic metabolic alkalosis, and/or hyponatremic hypochloremic dehydration)
- Hemolytic anemia and defective coagulation due to vitamin malabsorption [8]
Prognosis
- Life expectancy of patients with cystic fibrosis has been increased over past decades because of better symptomatic treatment strategies.
- In patients with cystic fibrosis, obstructive lung disease and other lung complications are currently the primary causes of morbidity and are responsible for 80% of mortality.[2][9]
- At present, the survival probability of children is 40-50 years.[10]
- Women with cystic fibrosis have a shortened life expectancy compared to men. Women also become colonized with certain common CF pathogens earlier and have a lower life expectancy in the setting of respiratory infections.[11]
References
- ↑ Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR (December 2008). "Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders". Genet. Med. 10 (12): 851–68. doi:10.1097/GIM.0b013e31818e55a2. PMC 2810953. PMID 19092437.
- ↑ 2.0 2.1 Cutting GR (2015). "Cystic fibrosis genetics: from molecular understanding to clinical application". Nat. Rev. Genet. 16 (1): 45–56. doi:10.1038/nrg3849. PMC 4364438. PMID 25404111.
- ↑ Edmondson C, Davies JC (2016). "Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications". Ther Adv Chronic Dis. 7 (3): 170–83. doi:10.1177/2040622316641352. PMC 4907071. PMID 27347364.
- ↑ Ratjen FA (2009). "Cystic fibrosis: pathogenesis and future treatment strategies". Respir Care. 54 (5): 595–605. PMID 19393104.
- ↑ 5.0 5.1 5.2 Flume PA (May 2009). "Pulmonary complications of cystic fibrosis". Respir Care. 54 (5): 618–27. PMID 19393106.
- ↑ Gelfond D, Borowitz D (April 2013). "Gastrointestinal complications of cystic fibrosis". Clin. Gastroenterol. Hepatol. 11 (4): 333–42, quiz e30–1. doi:10.1016/j.cgh.2012.11.006. PMID 23142604.
- ↑ Sabharwal S (January 2016). "Gastrointestinal Manifestations of Cystic Fibrosis". Gastroenterol Hepatol (N Y). 12 (1): 43–7. PMC 4865785. PMID 27330503.
- ↑ Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, Cutting GR (December 2008). "Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders". Genet. Med. 10 (12): 851–68. doi:10.1097/GIM.0b013e31818e55a2. PMC 2810953. PMID 19092437.
- ↑ Pettit RS, Fellner C (July 2014). "CFTR Modulators for the Treatment of Cystic Fibrosis". P T. 39 (7): 500–11. PMC 4103577. PMID 25083129.
- ↑ Fila L (2018). "[Cystic fibrosis in adults]". Vnitr Lek (in Czech). 63 (11): 834–842. PMID 29303286.
- ↑ Harness-Brumley CL, Elliott AC, Rosenbluth DB, Raghavan D, Jain R (December 2014). "Gender differences in outcomes of patients with cystic fibrosis". J Womens Health (Larchmt). 23 (12): 1012–20. doi:10.1089/jwh.2014.4985. PMC 4442553. PMID 25495366.