Cystic Fibrosis: Everything You Need to Know

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Many people know cystic fibrosis as a disease that affects children and causes breathing problems, but in reality CF can affect children and adults alike, leading a range of symptoms to develop. Around 70,000 people worldwide suffer from CF, with 30,000 patients in the US alone. And, perhaps surprisingly, almost half of these people are aged 18 or over. There’s no cure for CF at present, but there have been major improvements in treatment over the years, which tackle the symptoms far more effectively and significantly extend the life expectancy of patients.

The cause of cystic fibrosis

Cystic fibrosis is an inherited condition that results in a genetic mutation of the CFTR gene. About one in 25 people carry the mutation, and if both parents carry it, any child they produce has a 25% risk of having CF and a 50% chance of becoming a carrier. The mutated gene interferes with the normal movement of salt and water through the body’s cells. This causes thick mucus to build up in several areas of the body, which can make the patient prone to repeated infections and also limits some other bodily functions (with serious consequences).

The lungs

The most common and serious problem associated with CF is the buildup of mucus in the lungs. Naturally, this makes normal breathing very difficult, and causes coughing (often expelling mucus), shortness of breath, and wheezing. Infections caused by the mucus include pneumonia and bronchitis. and CF patients frequently suffer from repeated infections that can be difficult to treat. Over time, this process can cause permanent damage to the lungs, and sometimes a lung transplant is the only answer. Building lung capacity (e.g. by playing sports and learning a wind or brass instrument) can help maintain healthier, better-functioning lungs, so an active lifestyle can be an important weapon in the fight against CF.

The sinuses

In a similar way, continuous mucus buildup can clog the sinuses, causing blockages and infections, together with other associated symptoms like fevers and headaches. Polyps can sometimes grow in the nasal passages as well, making breathing even harder.

The digestive system

A less well-known symptom of CF is the buildup of mucus in the digestive system—especially the pancreas. This problem inhibits the work of the enzymes that help to digest food, so CF patients may become malnourished and their growth may be stunted. Difficulties in digestion also lead to frequently passing greasy, bulky stools, or developing constipation. In addition, persistent issues with bowel function can cause problems such as hemorrhoids or a rectal prolapse.

The liver

In the liver, mucus deposits can block the bile duct, meaning the body’s waste products can’t be filtered efficiently. In time, this can cause liver disease, and (as with the lungs) the only solution to this form of cirrhosis is a transplant.

The reproductive system

In men, the mucus can also damage the reproductive system, causing a lowered sperm count, or sometimes infertility.

How cystic fibrosis is diagnosed

Nowadays, most babies are screened at birth for CF, so the majority of people are diagnosed conclusively by the time they’re two years old. However, especially if the CF is relatively mild, a diagnosis isn’t made until later in life—sometimes even in adulthood. If a health professional suspects CF, a formal diagnosis can only be made after a series of test (which may include a sweat chloride test, genetic testing, and a clinical evaluation at an accredited CF center).

The prognosis for CF patients

In 1986, only around 30% of patients lived beyond the 18th birthday. In 2013, this had improved hugely, and today almost half of all CF patients are over 18 years old. Many live to their thirties and forties with a reasonable quality of life.

Treatments for cystic fibrosis

Because each person is affected individually, everyone needs an individual treatment plan. This plan may include medication and therapies for chest mucus, nebulizers to keep lungs clear, and antibiotics to prevent infections. Nutrition therapies and fitness plans may also be necessary.

The future for cystic fibrosis treatment

Recently, the drug Orkambi has been very helpful in managing symptoms in serious cases of CF, cutting the frequency of infections and improving lung function. Research is also continuing into other treatments, such as CFTR modulators that improve the function of the defective gene, treatments that restore liquids to the lungs, and drugs that lower inflammation.

Sources:
https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/
http://adc.bmj.com/content/61/6/576.full.pdf
https://www.cff.org/CF-Community-Blog/Posts/Video–What-s-Next-for-Clinical-Research-/

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