What is cystic fibrosis?
People with cystic fibrosis are living longer than ever before. According to the Cystic Fibrosis Foundation Patient Registry, half of people with cystic fibrosis who were born between 2015 and 2019 have a predicted life expectancy of at least 46 years. Some people with cystic fibrosis live into their 60s and 70s. New medications and treatments for cystic fibrosis have increased life expectancy.
As people are living longer with cystic fibrosis, they may experience other conditions, or comorbidities, along with the condition. People who have cystic fibrosis may also experience endocrine disorders such as diabetes, poor growth and development during puberty, bone disease, vitamin D deficiency, and thyroid and adrenal disorders. Newer treatments for cystic fibrosis seek to reverse or slow down some of these cystic fibrosis comorbidities.
Symptoms of cystic fibrosis
People with CF often have a frequent cough with phlegm. They get frequent lung infections like pneumonia because the sticky mucus traps germs. They may feel short of breath or wheeze on a regular basis.
The lack of oxygen can cause clubbing of the fingers and toes. With clubbing, the ends of the fingers appear bloated and the fingernails could be deformed. Luckily, once the lack of oxygen is addressed, clubbing often goes away on its own.
People with CF may have greasy, large bowel movements more frequently than normal. Conversely, they may be prone to intestinal blockages or constipation. Due to thick mucus in the digestive system, they may not gain weight or have adequate nutrition despite eating a normal amount of food. This can cause delayed growth and development in children.
Other signs of cystic fibrosis
Causes of cystic fibrosis
Cystic fibrosis is caused by a genetic mutation that parents pass to their children. There are over 1700 variations of the mutation, which may make it hard to diagnose adults as carriers.
Cystic fibrosis inheritance is autosomal recessive, meaning a person has to have two copies of this gene get cystic fibrosis. People who have only one copy of this gene -- carriers -- do not have cystic fibrosis but could pass it on to their children if they have a child with another carrier.
Diagnosis/tests for cystic fibrosis
Most people get a diagnosis by age two, due to the progressive nature of the disease. However, some people with a less severe version of cystic fibrosis may not get a diagnosis until their teenage years.
To diagnose CF, doctors will perform the following tests:
People with cystic fibrosis have higher levels of salt in their sweat. So, doctors test sweat to see how much salt is in it. If your sweat has over 60 millimoles per liter of chloride, then you may have cystic fibrosis. However, this alone is not enough, so doctors will perform these other tests listed to make a clear diagnosis.
Doctors may test both a child and their parents for cystic fibrosis genes. Testing the child can confirm the presence of two CF genes. Testing the parents can confirm if both are a carrier, and may help them with future family planning decisions.
However, the genetic carrier tests available only test for the most common mutations. So, it's possible for someone to be a carrier but still test negative for the gene.
Doctors usually offer carrier testing to pregnant people and couples who are thinking of having children. If someone in your family has CF, you are at higher risk of having a child with cystic fibrosis and should get tested.
Sometimes, doctors perform genetic testing for cystic fibrosis on infants while they are still in utero.
The buildup of mucus in the digestive system often prevents the pancreas from releasing important digestive enzymes in people with CF. Doctors may test the stool for the enzyme chymotrypsin to see if a cystic fibrosis diagnosis is likely.
They may also test your stool for elastase, another digestive enzyme.
Another pancreatic test is a blood test for trypsinogen -- a precursor to a digestive enzyme created by the pancreas.
Treatments for cystic fibrosis
Cystic fibrosis is a complex disease and each case is different. So, treatment may be different for each person.
There is currently no cure for CF. However, people with it are living longer than previously with advances in treatment. In the 1950s, many children with the disease didn't live to school age. Now, the current average lifespan for people with cystic fibrosis is 44.
Treatments to manage the condition include:
Keeping the airways clear is an important aspect of CF management. This prevents infections and helps people breathe. People with CF work with specialists to learn particular breathing and coughing techniques.
There are also assistive devices like vibrating vests to help clear mucus. In some cases, parents bang on a child's chest and back to break up mucus.
People with CF get frequent lung infections. Doctors may use antibiotics to proactively prevent infections, or use them to treat current infections.
They may also take a sputum culture -- a test in which a person coughs to produce mucus to test -- to detect exactly which bacteria is causing the most current infection.
In addition to antibiotics, other medications may help people with CF, including:
- Anti-inflammatory medications
- CTFR modulators (medicines that work on the protein affected by the genetic mutation that causes CF)
- Medicines to thin mucus
People with severe cases of cystic fibrosis may benefit from a lung transplant.
National Heart, Lung, and Blood Institute: "Cystic Fibrosis."
Mount Sinai: "Clubbing of the fingers or toes."
Medline Plus: "Cystic Fibrosis."
Cystic Fibrosis Foundation: "Carrier Testing for Cystic Fibrosis."
Lab Tests Online: "Chymotrypsin."
Medline Plus: "Stool Elastase."
Lab Tests Online: "Immunoreactive Trypsinogen (IRT)."
Medline Plus: "Cystic fibrosis."
KidsHealth: "Cystic Fibrosis (CF) Respiratory Screen: Sputum."
University of Wisconsin-Madison: "Cystic Fibrosis (CF)."
Cystic Fibrosis Foundation: "Understanding Changes in Life Expectancy."
National Jewish Health: "Cystic Fibrosis: Life Expectancy."
Current Opinion in Endocrinology, Diabetes, and Obesity: "Diagnosis and Treatment of Endocrine Comorbidities in Patients with Cystic Fibrosis."
Presse Medicale: "Current and Emerging Comorbidities in Cystic Fibrosis."
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