Overview
Cystic fibrosis (CF) is an inherited genetic disorder that affects the cells that produce mucus, sweat, and digestive juices. A defective gene causes the secretions to become thick and sticky rather than thin and slippery, leading to the build-up of mucus in the lungs, pancreas, and other organs. This can cause severe damage and impair their normal functioning. CF is progressive, but advancements in screening and treatments have improved the quality of life and life expectancy for those with the condition. It primarily affects people of Northern European ancestry and runs in families. Some common symptoms include chronic lung infections, digestive issues, and thinning of bones.
Understanding the disease
Symptoms
The symptoms of cystic fibrosis can vary depending on the severity of the disease, and some people may not experience symptoms until their teenage years or adulthood. However, common symptoms of cystic fibrosis affect the respiratory and digestive systems. Respiratory symptoms may include a persistent cough that produces thick mucus, wheezing, exercise intolerance, repeated lung infections, inflamed nasal passages, and recurrent sinusitis. Digestive symptoms may include difficulty gaining weight, poor appetite, foul-smelling greasy stools, chronic or severe constipation, and intestinal blockage, particularly in newborns. People with cystic fibrosis may also experience thinning of the bones (osteoporosis), electrolyte imbalances, dehydration, and mental health problems like depression and anxiety. If you or your child has symptoms of cystic fibrosis or if someone in your family has CF, it is essential to consult a physician knowledgeable about CF and seek regular follow-up with your doctor.
Risk Factors
Risk factors for developing cystic fibrosis include a family history of the disorder, as it is an inherited condition, and being of Northern European ancestry, as it is more common in white people of this background.
Development
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene controls the movement of salt in and out of cells, and its malfunction leads to the production of thick, sticky mucus in the respiratory, digestive, and reproductive systems, as well as increased salt in sweat. The severity of CF depends on the type of gene mutation, as there are many different defects that can occur in the gene. When two carriers of the CFTR gene have a child, there is a 25% chance that the child will have CF, a 50% chance that the child will be a carrier, and a 25% chance that the child will not have the gene or be a carrier. Children need to inherit one copy of the gene from each parent to develop the disease. Some people with CF may not experience symptoms until their teenage years or adulthood, while others may be diagnosed at birth due to newborn screening. The signs and symptoms of CF primarily affect the respiratory and digestive systems, including chronic infections, bronchiectasis, and digestive enzyme insufficiency.
Assessment and Diagnosis
Triage
You should see a doctor if cystic fibrosis is suspected or if someone in your family has CF. Consult a physician who is knowledgeable about CF. If you or your child has symptoms of cystic fibrosis, it is important to seek medical attention, especially if you experience new or worsening symptoms such as more mucus than usual, a change in mucus color, lack of energy, weight loss, or severe constipation. Additionally, seek immediate medical care if you cough up blood, have chest pain or difficulty breathing, or experience severe stomach pain and distention.
Diagnosis
To diagnose cystic fibrosis, doctors typically conduct a physical exam, review the patient's symptoms, and perform several tests. In newborns, cystic fibrosis is routinely screened for through a blood test checking for higher than normal levels of immunoreactive trypsinogen (IRT). For older children and adults, additional tests such as sweat tests and genetic tests may be recommended if they have recurring bouts of inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.
Management and Treatment
Complications
Complications of cystic fibrosis can affect the respiratory, digestive, and reproductive systems, as well as other organs. Some potential complications include:
- Damaged airways (bronchiectasis) due to widening and scarring of the airways.
- Chronic infections in the lungs and sinuses, often caused by bacteria and fungi.
- Infertility in men due to blocked or missing vas deferens.
- Reduced fertility in women, although they may still be able to conceive and have successful pregnancies.
- Thinning of the bones (osteoporosis) and associated joint pain, arthritis, and muscle pain.
- Electrolyte imbalances and dehydration due to salty sweat.
- Mental health problems such as fear, depression, and anxiety. Remember that cystic fibrosis is an inherited disorder, and family history is a risk factor. It is most common in white people of Northern European ancestry.
Preparing for medical consultation
To prepare for an appointment related to cystic fibrosis, you should:
- Gather medical history: Make a list of any past medical procedures, hospitalizations, or surgeries your child has had, as well as any current medications they are taking.
- Note symptoms: Write down any symptoms your child has been experiencing, including those that may seem unrelated to cystic fibrosis. Be specific about when they began and how often they occur.
- Discuss family history: Provide information about any family history of cystic fibrosis, other genetic diseases, or related conditions, such as chronic lung disease or diabetes.
- Mention recent life changes: Inform your healthcare provider about any recent life changes, such as a move to a new area or changes in school, that could impact your child's health.
- Prepare for diagnostic tests: If diagnostic tests are planned, ask about any necessary preparations, such as fasting or avoiding certain medications before the tests.
- Take notes: Bring a notebook to jot down important information discussed during the appointment, as well as any questions you may have for the healthcare provider.
- Bring a support person: Consider bringing a friend or family member to provide emotional support and help remember important details discussed during the appointment. Remember to be open and honest with your healthcare provider about your child's symptoms and medical history. This will help them provide the best possible care and make informed decisions.