Cystic Fibrosis - Medtick
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Cystic Fibrosis

What is it?

An inherited condition (develops soon after birth) that affects ones lungs and digestive system (including the pancreas, liver, gastrointestinal tract and reproductive system) by producing thick sticky mucus due to much salt and little water moving in the cells.

  • It causes ones airways to be blocked with mucus (lungs) and prevents digestive enzymes to function (particularly in the pancreas) by blocking its secretions.
  • It can also lead to male infertility and female sub-fertility
Hughan KS, Daley T, Rayas MS, et al. Female reproductive health in cystic fibrosis. Journal of Cystic Fibrosis. 2019;18:S95–104. doi:10.1016/j.jcf.2019.08.024
White H, Chadwick H, Shaw N, et al. Evaluation of an RCT web-based intervention for adherence in cystic fibrosis. Indianapolis: 2017.
one is prone to bacterial infections (particularly chest infections) and this can lead to long term bacterial infections and inflammation of the organs (lungs , pancreas, abdomen and liver)

Cause

  • Mutation of the cystic fibrosis transmembrane receptor (CFTR) gene, which is responsible for producing the CFTR protein.
    • This protein affects control of salt and H2O in and out of body cells.
    • If the protein is deformed or defective, it can cause dehydration on the surface of a cell  leading to the thickening of the surrounding mucus.
  • Family history-autosomal recessive disorder (Both parents who are carriers of  the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
  • If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting FMF), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).

Symptoms

  • Tight chest?
  • Short of breath and/or breathing difficulties?
  • Regular chest and lung infection?
  • Initially a persistent dry cough which has now become a chesty cough with yellow/green and/or blood stained phlegm?
  • Feel full quickly when eating trapped wind and burping (‘foul rotten egg smell’)?
  • Bloated?
  • Long term persistent indigestion and/or frequent heartburn and/or ‘rumbling sound’ and/or constant abdominal pain and swelling?
  • Large smelly stools (due to stools not broken down by pancreas enzymes)?
  • Struggle to put weight on?
  • Weight loss?
  • If child, has one experienced a delay in puberty?
  • Joint stiffness and pain?
  • Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine?
  • Poor and/or slowed growth?
  • Rash?
  • Increase thirst, heavy sweating and need to urinate frequently?
  • Infertility problems?

Female only:

  • Period become irregular or absent?
  • Infertility problems?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

This condition can lead to:

Wilschanski M, Durie PR. Pathology of pancreatic and intestinal disorders in cystic fibrosis. J R Soc Med. 1998;91:40–9. doi:10.1177/014107689809134s07
Singh VK, Schwarzenberg SJ. Pancreatic insufficiency in Cystic Fibrosis. Journal of Cystic Fibrosis. 2017;16:S70–8. doi:10.1016/j.jcf.2017.06.011
  • Abdominal intestinal conditions particularly slowing of the gut and digestion problems and swelling.
  • Intestinal obstruction (a thickened, dehydrated mucus making the CF gut prone to obstruction. This manifests as meconium ileus in infants, and constipation and distal intestinal obstruction syndrome (DIOS) in older children and adults
  • Liver condition (liver scarring -this condition leads to a more acidic and viscous bile causing biliary obstruction, an increased concentration of toxic bile acids leading to fibrosis and cirrhosis)

Staufer K. Current Treatment Options for Cystic Fibrosis-Related Liver Disease. IJMS. 2020;21:8586. doi:10.3390/ijms21228586

Lindblad A, Glaumann H, Strandvik B. Natural history of liver disease in cystic fibrosis. Hepatology. 1999;30:1151–8. doi:10.1002/hep.510300527

  • Kidney condition
  • Appendicitis
  • Gallstones (Mucus blocks the ducts)
  • Allergies
  • Aspergillosis
  • Finger clubbing
  • Hernia (inguinal)
  • Diabetes: Due to pancreas not producing insulin effectively because mucus blocks the cells that produce insulin-the main symptom is to put weight on rather than increase thirst or go to urinate, or tiredness.
  • Arthritis
  • Osteoporosis
  • Dementia: When the brain no longer function properly leading to memory loss, difficulty to recalling information , or recently learned , completing tasks, communication problems and confusion.
  • Dermatomyositis: The inflammation (hot, red and swelling) of muscles causing muscle weakness and also one has rash, fever, joint pain, heart disease, stomach ulcers, breathing difficulties and weight loss.
  • Diabetic neuropathies: Nerve disorders in diabetics causing muscle weakness and numbness particularly on hands and feet
  • Diabetes (Type 3c) –  a type of diabetes that develops when another disease causes damage to the pancreas.

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Cystic Fibrosis in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

References

The Pharmaceutical Journal, PJ, May 2023, Vol 310, No 7973;310(7973)::DOI:10.1211/PJ.2023.1.185428

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