What is cystic fibrosis?
Cystic fibrosis is a disease that affects the cells that produce mucus, sweat and digestive juices. It turns normally thin, slippery fluids into thick, sticky secretions. Instead of lubricating your lungs, pancreas and other organs, the fluids clog up tubes, ducts and airways. These clogs cause problems with breathing, digestion, nutrient absorption and other critical body functions.
What causes cystic fibrosis?
Cystic fibrosis (commonly called CF) is a genetic disease, inherited from your parents. Both parents must carry a copy of the mutated gene, passing along two copies to their child and resulting in cystic fibrosis.
Many people — about 1 in 31 — are carriers of one defective gene and can pass it along during reproduction. But it takes two faulty genes to cause CF and alter the body’s production of mucus and fluids.
What are the symptoms of CF?
Classic cases of cystic fibrosis are typically found in children. Parents and providers may notice any of these signs, which usually show up by age two:
- Slow growth or weight gain (even with good eating)
- Wheezing or trouble breathing
- Loose, oily stools
- Recurrent lung or sinus infections
- Nagging, mucus-producing cough
- Stuffy nose or inflamed nasal passages
- Chronic or severe constipation
- Enlarged fingertips and toes
There are also atypical cases of CF, which present an entirely different set of symptoms. Because of the atypical warning signs, cystic fibrosis can go undetected until adulthood. Atypical symptoms are more common in adults, but some may occur in children too. You may experience:
- Chronic sinusitis
- Asthma, COPD and other breathing issues
- Nasal polyps
- Dehydration
- Heat stroke
- Pancreatitis
- Diarrhea
- Weight loss
How do you diagnose cystic fibrosis?
Cystic fibrosis is often detected early — either before birth or shortly after. During pregnancy, women may opt for a carrier screening, which is a genetic test that checks for the mutated gene linked to CF. If the mother has the defective gene, then the father is tested for it to assess a baby’s risk of cystic fibrosis.
Newborn babies are also screened. It’s a requirement in the United States. Newborn cystic fibrosis screenings help catch cases that weren’t identified in carrier screening or where those tests weren’t done. Later in life, there are many other ways to discover cystic fibrosis:
- Genetic tests can be done at any time with a blood sample.
- Sweat tests measure the amount of chloride in sweat — which is higher in people who have cystic fibrosis.
- Sputum cultures take your saliva and test it for common forms of bacteria found in those with CF.
- X-rays of the chest or sinuses can confirm cystic fibrosis when there are symptoms, but are typically used alongside other testing.
When a diagnosis is in doubt, there are still more tests that can confirm the disease. A nasal potential difference uses electrodes and solutions to measure the electricity transferred through your nasal tissue. And intestinal current measurement takes a biopsy of rectal tissue to measure chloride secretions.
What complications come from cystic fibrosis?
Cystic fibrosis is a serious disease that causes problems throughout life and limits life expectancy. Advancements in medicine allow people with cystic fibrosis to leave into their 30s and 40s — even 50s — which was unheard of years ago.
Life expectancy is lower because there are so many potential complications, starting and childhood and lasting throughout life. Cystic fibrosis causes problems with multiple body systems: respiratory, reproductive, digestive and musculoskeletal. You can have one or many complications:
- Osteoporosis
- Electrolyte imbalance causing dehydration
- Fertility problems or infertility
- Damaged or chronically infected airways
- Coughing up blood
- Lung failure
- Trouble breathing requiring treatment or hospitalization
- Diabetes
- Blockages in the intestines
- Liver disease
- Nutritional deficiencies
What types of therapies and treatments are available for cystic fibrosis?
There is no cure for cystic fibrosis, so the goal of treatment is to maximize quality of life and minimize complications. That starts with early detection and treatment, which helps slow the progression of CF and limit the damage it causes. Early treatments may be aggressive for this reason. Other CF therapies will depend on how the disease changes and what complications are present throughout life, but may include:
- Medication – Antibiotics, inhalers, anti-inflammatories, mucus thinners, gene-targeting medicines, stool softeners and pancreatic enzymes are all used for various reasons in treating cystic fibrosis.
- Surgery — Procedures to remove bowel blockages, clear airways in your nose and sinuses and transplant your liver or lungs are all possibilities, depending on the severity of disease and what it’s affecting.
- Pulmonary rehabilitation – To improve lung function and well-being, you may have a long-term program that includes exercise, nutritional counseling, breathing techniques, education and mental health counseling.
- Airway management – The most important thing to do is to keep the airways clear, which is mostly done at home with chest physical therapy, coughing and breathing techniques and devices that loosen mucus.
How can a Med-Peds physician help with cystic fibrosis?
It takes a multi-specialty team to manage cystic fibrosis — experts in many of the body’s systems as well as a physician trained in CF. Med-Peds physicians understand the complexities of the disease. Having an Internal Medicine-Pediatrics doc guiding your care from childhood and into adulthood can help keep pace with the constant treatment and management of CF. With a thorough understanding of your medical and treatment history, they will help improve your quality of life.
Make an appointment with a Med-Peds specialist if you’re worried about being a carrier of cystic fibrosis, that your child is showing signs of CF or you’re feeling atypical symptoms yourself.