Cystic Fibrosis

This condition usually runs in families and the abnormal genes usually pass from biological parents to biological children. It is called cystic fibrosis (CF) and it causes damage to multiple organs and systems in the body including the lungs, digestive system, and others.

This condition negatively affects the cells that produce mucus, sweat, and digestive juices. Previous fluids also known as secretions are normally slippery and thin that help to protect the body’s internal tubes. However, if CF occurs, these secretions become thick and sticky, which may narrow or even block the pathways, especially in the pancreas and lungs.

This condition requires daily care, otherwise, it may worsen over time. Nowadays, people with CF have a better quality of life compared to a few previous decades because of new treatments and better screening. Moreover, in some cases, people are diagnosed with CF later in life.

Symptoms

Now in the U.S., all newborns are screened for CF. There are certain tests that may diagnose the condition even in the first weeks of life. Previously, these tests were not available, and people were diagnosed with CF when the symptoms happened.

The symptoms that people with CF experience are different because it depends on which organ is affected, overall health, the severity of the disease, and others. However, sometimes, the CF symptoms do not appear until the teen years or adulthood.

Those who are not diagnosed with CF until adulthood usually experience mild symptoms. For example recurrent pancreatitis or pneumonia, infertility, and others. Generally, those who suffer from CF have increased salt levels in their sweat. Usually, parents may taste the salt when they kiss their children. In any case, cystic fibrosis usually affects the digestive and respiratory systems.

Respiratory Symptoms

The most common affected organ in people with CF is the lungs. The airways become narrowed or even blocked with mucus that causes breathing problems. Check below some symptoms:

Persistent cough
Wheezing
Reduced ability to perform physical exercise
Recurrent lung infections
Swollen and irritated nasal passages
Stuffy nose
Repeated sinus infections

Digestive Symptoms

The tubes that carry digestive enzymes also can be blocked by the thick mucus produced by CF. Furthermore, these tubes carry enzymes from the pancreas to the small bowel and without them intestines cannot completely use nutrients in food. As a result, you may notice the following symptoms:

Greasy and foul-smelling stools
Poor growth and weight gain
Blocked intestines (it occurs mostly in newborns)
Severe constipation
Rectal prolapse

If you or your child experiences any of the previous symptoms, do not hesitate to see a doctor. For people with cystic fibrosis, it is advised to have regular checkups (at least once every 3 months). Inform your healthcare professional if you notice new or worsening symptoms including increased mucus levels, lack of energy, severe constipation, or weight loss.

You should get emergency care if you coughing up blood, experiencing chest pain, breathing problems, and severe stomach pain. In such cases, go to the nearest emergency room or call 911 in the U.S.

Causes

This condition usually occurs due to a gene mutation that causes problems with the protein responsible for controlling the movement of water and salt in and out of the cells. It is called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. When this gene does not work properly, it causes the mucus to become sticky and thick, which allows it to collect in the respiratory, digestive, and reproductive systems.

The gene mutations that cause cystic fibrosis are classified into several groups according to the problems they cause. The groups of gene mutations affect how much protein is produced and how well it works.

This condition occurs if the child receives the abnormal gene from both parents. If he/she receives only one abnormal copy of the CFTR gene, it will carry it but not develop CF. Carriers usually do not experience any symptoms of CF.

Risk Factors

Generally, the only risk factor for cystic fibrosis is a family history of the disease because it runs in families. Moreover, this condition may occur in any race but mostly happens in white people of Northern European ancestry.

One way to prevent serious complications, improve the quality of life, and live longer, is early diagnosis and proper treatment.

Complications

People with cystic fibrosis may experience some complications, especially if they ignore the symptoms and do not get treatment. Check some complications below:

Respiratory System Complications

Damage to the airways – One of the most common causes of airway damage is cystic fibrosis. This is a long-term disease called bronchiectasis. It causes breathing problems and may lead to scarring and widening of the airways without treatment.
Infections – The fungi and bacteria easily develop in the lungs and sinuses due to the thick mucus produced by CF. The most common recurrent infections include sinus infections, bronchitis, and pneumonia.
Nasal polyps – These are certain growths that appear on the nose lining and cause irritation and inflammation (swelling).
Coughing up blood – This complication usually occurs after damage to the airways and recurrent infections. However, it often is not a life-threatening health problem.
Pneumothorax (also called collapsed lung) – It happens when the air enters the space between the chest wall and the lungs. As a result, a part of the lung is collapsed. This condition may lead to sudden chest pain and shortness of breath.
Respiratory failure – Without treatment, damage caused by CF may lead to lung failure, which is a life-threatening condition. Furthermore, this is the most common cause of death in people with CF.
Worsening symptoms – Sometimes, people may experience exacerbations (worsening of the respiratory symptoms). When it happens, people usually experience the following symptoms. These include weight loss, reduced energy, persistent cough, shortness of breath, and others.

Digestive System Complications

Poor nutrition – This complication commonly happens because of mucus that occurs in the tubes that carry enzymes from the pancreas to the small bowel. As a result, the body cannot absorb the nutrients from the food.
Diabetes – CF significantly increases the risk of diabetes. For instance, approximately 20% of teenagers and up to 50% of adults with CF develop this condition.
Liver disease – Mucus also may appear in the tube that carries the bile from the liver and gallbladder to the small intestine. As a result, it becomes blocked and inflamed causing liver problems including fatty liver disease, cirrhosis, and jaundice (yellowing of the eyes and skin). In some cases, inflammation and blockages of the bile duct may lead to gallstones.
Intestinal obstruction – Anyone with CF may develop this complication.
Distal intestinal obstruction syndrome (DIOS) – This condition occurs when a part of even complete blockage of the part that connects the small intestine with the large one happens. DIOS is considered a medical emergency.

Reproductive System Complications

Infertility in men – Approximately all men with CF are not fertile. It occurs due to the mucus that goes to the tube that connects the testes with the prostate gland (vas deferens). As a result, the sperm produced by the testicles cannot pass through this narrowed or blocked tube. However, there are certain fertility treatments available.
Reduced fertility in women – Women with CF still can become pregnant. However, pregnancy may worsen the symptoms of cystic fibrosis.

Other Complications

Osteoporosis (thinning of the bones) – People with CF are at increased risk of developing this condition. However, they also may experience arthritis, joint pain, muscle pain, and others.
Dehydration – People with CF have an increased risk of developing dehydration, especially in hot weather. The symptoms of this complication include quick heart rate, extreme tiredness (fatigue), weakness, and hypotension (low blood pressure).
GERD (gastroesophageal reflux disease) – This is a condition that causes stomach acid back up in the esophagus (the tube that connects the stomach with the mouth).
Mental disorders – People who have conditions that cannot be cured frequently experience fear, depression, and anxiety.
Increased risk of developing digestive tract cancer – People with CF are at greater risk of developing the following cancers. For example cancer of the esophagus, stomach, small and large intestines, liver, and pancreas.

Prevention

The only way to prevent this condition is to perform genetic testing before getting pregnant. This test is not for everyone, discuss it with your healthcare professional before being tested. However, if the condition is diagnosed during pregnancy, physicians may need to perform additional tests on the unborn baby.

Diagnosis

Doctors diagnose this condition like many others by performing a physical examination and questions about your family history and symptoms.

However, nowadays the U.S. routinely screens newborns for CF. Early diagnosis and treatment may help prevent serious complications. Check below some tests used to diagnose cystic fibrosis in newborns:

Newborn screening – This involves blood tests to check levels of the immunoreactive trypsinogen (IRT) released by the pancreas. If tests show high IRT levels, it indicates cystic fibrosis. Sometimes, high IRT levels can be caused by stressful delivery or premature birth. In such cases, other tests are required to confirm the disease.
Sweat test – This test helps check salt levels in sweat. Generally, people with CF have elevated salt levels in their sweat.
Genetic testing – This test may be performed to check for abnormal genes that cause CF.

If the condition is not diagnosed during pregnancy or after birth because it does not cause symptoms physicians may recommend previous tests later in life. These tests are recommended for people with frequent pancreatitis, nasal polyps, chronic sinus infections, lung infections, bronchiectasis, or male infertility.

Treatment

Unfortunately, this condition cannot be cured, but there are multiple treatments that help lessen the symptoms and reduce the risk of complications. Generally, the treatment goal is to control the recurrent infections, remove thick mucus produced by the condition, prevent intestinal blockages, and get good nutrition. Check below some treatments usually recommended for people with CF:

Medicines

These include:

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators – This group of medicines is used to improve how this protein works.
Antibiotics – These medications are used to prevent lung infections.
Anti-inflammatory medications to reduce swelling that occurs in the lungs.
Mucus-thinning medications – Physicians usually recommend hypertonic saline.
Bronchodilators – These medicines are used to open airways and relax muscles that surround the bronchial tubes.
Pancreatic enzymes to improve digestive tract function
Stool softeners to lessen or prevent constipation and bowel obstruction
Acid-reduction medicines
Other medicines for chronic health conditions including liver disease, diabetes, or others

Other Treatments

The following treatments are recommended by doctors to treat health problems caused by cystic fibrosis. Examples include:

Sinus and nasal surgery – This procedure is used to remove nasal polyps that often cause breathing problems.
Oxygen therapy – This treatment is prescribed for patients who have low levels of oxygen in the blood.
Noninvasive ventilation – This therapy is often used during sleep and involves a specific mask that gives positive pressure in the airway and lungs.
Feeding tube – Some people with CF do not get enough nutrients. That’s why doctors may recommend a feeding tube. It helps get extra calories.
Bowel surgery – There are people with intestinal blockages that require this procedure. During this procedure, surgeons will remove the blockages and restore intestine function.
Lung or liver transplant – These surgeries involve the removal of the damaged lung or liver and replace it with a healthy one. This treatment is often recommended when other treatments do not work.

Frequently Asked Questions

What are the primary symptoms of cystic fibrosis?

People who suffer from this condition usually experience the following symptoms. Examples include:

Male infertility
Increased salt levels in the sweat
Pancreatic problems (including digestive problems, malnutrition, and others)
Diabetes
Increased mucus production in the lungs or other body parts
Skin problems
Nasal polyps

This article does not contain all possible symptoms of CF. If any of them occur, immediately visit a doctor.

What is the life expectancy in people with cystic fibrosis?

The life expectancy in people with this disease varies significantly because it depends on multiple factors. For example, the severity of the condition, affected organs, your response to treatment, and others. Generally, the life expectancy is approximately 40-50 years.

What are the potential complications of cystic fibrosis?

Those who suffer from this disease may experience some complications, especially if they do not treat the condition. Examples include:

Digestive system problems (for example malnutrition, intestinal obstruction, liver disease, and others)
Endocrine system problems (such as mineral imbalance, diabetes, and others)
Reproductive system issues (including male infertility)
Osteoporosis
Nasal polyps
Hearing loss

Consult with your healthcare professional about ways how to reduce the risk of developing CF complications.