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Cystic Fibrosis (CF, cystic fibrosis of pancreas, fibrocystic disease of pancreas, mucoviscidosis) : Symptoms, Causes, Diagnosis and Treatment

What is Cystic Fibrosis?

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).

Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.

Cystic Fibrosis is also known as CF, cystic fibrosis of pancreas, fibrocystic disease of pancreas, mucoviscidosis. Cystic Fibrosis belongs under the category of inherited disease. Generally Male, Female are the victim of the Cystic Fibrosis. Seriousness of this disease is Medium.

Symptoms of Cystic Fibrosis are :

  • Weight loss
  • Sudden, noticeable weight loss can happen after a stressful event, although it can also be a sign of a serious illness.

    It's normal to lose a noticeable amount of weight after the stress of changing jobs, divorce, redundancy or bereavement.

    Weight often returns to normal when you start to feel happier, after you've had time to grieve or get used to the change. Counselling and support may be needed to help you get to this stage.

    Significant weight loss can also be the result of an eating disorder, such as anorexia or bulimia. If you think you have an eating disorder, talk to someone you trust and consider speaking to your GP. There are also several organisations that can provide you with information and advice, such as the eating disorders charity Beat.

    If your weight loss wasn't due to one of the causes mentioned, and you didn't lose weight through dieting or exercising, see your GP, as you may have an illness that needs treating.

  • Cough
  • When you?re sick or your lungs have become irritated, your body reacts by coughing. This is your body?s defense mechanism to clear out any mucus, allergens, or pollutants so that you don?t keep breathing it in. Coughing is usually nothing to be concerned about. When a cough is a symptom of a cold, it tends to clear up on its own within two or three weeks.

    A lingering cough or a chronic cough not brought on by a recent cold can be an indicator of a more serious condition. Coughs that last longer than eight weeksTrusted Source for adults, or four weeks in children, are considered chronic.

  • Frequent loose, watery stools
  • Loose stools are bowel movements that appear softer than normal. They can be watery, mushy, or shapeless. In some cases, they may have a strong or foul odor.

    There are many possible causes for loose stools. They frequently happen after eating, but they can also occur throughout the day.

  • Shortness of breath
  • Infertility
  • Very salty-tasting skin
  • Lung infections
  • Recurrent sinusitis
  • Causes

    Cystic Fibrosis can be caused due to:

    In cystic fibrosis, a defect (mutation) in a gene ? the cystic fibrosis transmembrane conductance regulator (CFTR) gene ? changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

    Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.

    Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis. However, they will be carriers and could pass the gene to their own children.

    What kind of precaution should be taken in Cystic Fibrosis?

    If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine your risk of having a child with CF.

    If you're already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child.

    Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.

    Treatment for the Cystic Fibrosis

    Diagnosis:

    In the United States, all newborns are screened for cystic fibrosis. Doctors use a genetic test or blood test to check for signs of the disease. The genetic test detects whether your baby has a defective CFTR gene. The blood test determines whether a baby?s pancreas and liver are working correctly. Other diagnostic tests that may be performed include:

    Immunoreactive Trypsinogen (IRT) Test

    The immunoreactive trypsinogen (IRT) test is a standard newborn screening test that checks for abnormal levels of the protein called IRT in the blood. A high level of IRT may be a sign of cystic fibrosis. However, further testing is required to confirm the diagnosis.

    Sweat Chloride Test

    The sweat chloride test is the most commonly used test for diagnosing cystic fibrosis. It checks for increased levels of salt in the sweat. The test is performed by using a chemical that makes the skin sweat when triggered by a weak electric current. Sweat is collected on a pad or paper and then analyzed. A diagnosis of cystic fibrosis is made if the sweat is saltier than normal.

    Sputum Test

    During a sputum test, the doctor takes a sample of mucus. The sample can confirm the presence of a lung infection. It can also show the types of germs that are present and determine which antibiotics work best to treat them.

    Chest X-Ray

    A chest X-ray is useful in revealing swelling in the lungs due to blockages in the respiratory passageways.

    CT Scan

    A CT scan creates detailed images of the body by using a combination of X-rays taken from many different directions. These images allows your doctor to view internal structures, such as the liver and pancreas, making it easier to assess the extent of organ damage caused by cystic fibrosis.

    Pulmonary Function Tests (PFTs)

    Pulmonary function tests (PFTs) determine whether your lungs are working properly. The tests can help measure how much air can be inhaled or exhaled and how well the lungs transport oxygen to the rest of the body. Any abnormalities in these functions may indicate cystic fibrosis.

    Treatment:

    There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications and improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to a longer life.

    Managing cystic fibrosis is complex, so consider getting treatment at a center with a multispecialty team of doctors and medical professionals trained in CF to evaluate and treat your condition.

    The goals of treatment include:

    • Preventing and controlling infections that occur in the lungs
    • Removing and loosening mucus from the lungs
    • Treating and preventing intestinal blockage
    • Providing adequate nutrition

    Medications

    Options include:

    • Medications that target gene mutations, including a new medication that combines three drugs to treat the most common genetic mutation causing CF and is considered a major achievement in treatment
    • Antibiotics to treat and prevent lung infections
    • Anti-inflammatory medications to lessen swelling in the airways in your lungs
    • Mucus-thinning drugs, such as hypertonic saline, to help you cough up the mucus, which can improve lung function
    • Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchial tubes
    • Oral pancreatic enzymes to help your digestive tract absorb nutrients
    • Stool softeners to prevent constipation or bowel obstruction
    • Acid-reducing medications to help pancreatic enzymes work better
    • Specific drugs for diabetes or liver disease, when appropriate

    Medications that target genes

    For those with cystic fibrosis who have certain gene mutations, doctors may recommend cystic fibrosis transmembrane conductance regulator (CTFR) modulators. These newer medications help improve the function of the faulty CFTR protein. They may improve lung function and weight, and reduce the amount of salt in sweat.

    The FDA has approved these medications for treating CF in people with one or more mutations in the CFTR gene:

    • The newest combination medication containing elexacaftor, ivacaftor and tezacaftor (Trikafta) is approved for people age 12 years and older and considered a breakthrough by many experts.
    • The combination medication containing tezacaftor and ivacaftor (Symdeko) is approved for people age 6 years and older.
    • The combination medication containing lumacaftor and ivacaftor (Orkambi) is approved for people who are age 2 years and older.
    • Ivacaftor (Kalydeco) has been approved for people who are 6 months and older.

    Doctors may conduct liver function tests and eye exams before prescribing these medications. While taking these drugs, testing on a regular basis is needed to check for side effects such as liver function abnormalities and cataracts. Ask your doctor and pharmacist for information on possible side effects and what to watch for.

    Keep regular follow-up appointments so your doctor can monitor you while taking these medications. Talk to your doctor about any side effects that you experience.

    Airway clearance techniques ? also called chest physical therapy (CPT) ? can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up.

    Airway clearing techniques are usually done several times a day. Different types of CPT can be used to loosen and remove mucus, and a combination of techniques may be recommended.

    • A common technique is clapping with cupped hands on the front and back of the chest.
    • Certain breathing and coughing techniques also may be used to help loosen the mucus.
    • Mechanical devices can help loosen lung mucus. Devices include a tube that you blow into and a machine that pulses air into the lungs (vibrating vest). Vigorous exercise also may be used to clear mucus.

    Your doctor will instruct you on the type and frequency of chest physical therapy that's best for you.

    Pulmonary rehabilitation

    Your doctor may recommend a long-term program that may improve your lung function and overall well-being. Pulmonary rehabilitation is usually done on an outpatient basis and may include:

    • Physical exercise that may improve your condition
    • Breathing techniques that may help loosen mucus and improve breathing
    • Nutritional counseling
    • Counseling and support
    • Education about your condition

    Surgical and other procedures

    Options for certain conditions caused by cystic fibrosis include:

    • Nasal and sinus surgery. Your doctor may recommend surgery to remove nasal polyps that obstruct breathing. Sinus surgery may be done to treat recurrent or chronic sinusitis.

    • Oxygen therapy. If your blood oxygen level declines, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).

    • Noninvasive ventilation. Typically used while sleeping, noninvasive ventilation uses a nose or mouth mask to provide positive pressure in the airway and lungs when you breathe in. It's often used in combination with oxygen therapy. Noninvasive ventilation can increase air exchange in the lungs and decrease the work of breathing. The treatment may also help with airway clearance.

    • Feeding tube. Cystic fibrosis interferes with digestion, so you can't absorb nutrients from food very well. Your doctor may suggest using a feeding tube to deliver extra nutrition. This tube may be a temporary tube inserted into your nose and guided to your stomach, or the tube may be surgically implanted in the abdomen. The tube can be used to give extra calories during the day or night and does not prevent eating by mouth.

    • Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a segment of intestine has telescoped inside an adjacent section of intestine, also may require surgical repair.

    • Lung transplant. If you have severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics for lung infections, lung transplantation may be an option. Because bacteria line the airways in diseases that cause permanent widening of the large airways (bronchiectasis), such as cystic fibrosis, both lungs need to be replaced.

      Cystic fibrosis does not recur in transplanted lungs. However, other complications associated with CF ? such as sinus infections, diabetes, pancreas conditions and osteoporosis ? can still occur after a lung transplant.

    • Liver transplant. For severe cystic fibrosis-related liver disease, such as cirrhosis, liver transplant may be an option. In some people, a liver transplant may be combined with lung or pancreas transplants.

    Possible complication with Cystic Fibrosis

    Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.

    Respiratory system complications

    • Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a chronic lung condition with abnormal widening and scarring of the airways (bronchial tubes). This makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes.
    • Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may often have sinus infections, bronchitis or pneumonia. Infection with bacteria that is resistant to antibiotics and difficult to treat is common.
    • Growths in the nose (nasal polyps). Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps).
    • Coughing up blood (hemoptysis). Bronchiectasis can occur next to blood vessels in the lungs. The combination of airway damage and infection can result in coughing up blood. Often this is only a small amount of blood, but it can also be life-threatening.
    • Pneumothorax. In this condition, air leaks into the space that separates the lungs from the chest wall, and part or all of a lung collapses. This is more common in adults with cystic fibrosis. Pneumothorax can cause sudden chest pain and breathlessness. People often feel a bubbling sensation in the chest.
    • Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening. Respiratory failure is the most common cause of death.
    • Acute exacerbations. People with cystic fibrosis may experience worsening of their respiratory symptoms, such as coughing with more mucus and shortness of breath. This is called an acute exacerbation and requires treatment with antibiotics. Sometimes treatment can be provided at home, but hospitalization may be needed. Decreased energy and weight loss also are common during exacerbations.

    Digestive system complications

    • Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can't absorb protein, fats or fat-soluble vitamins, so you can't get enough nutrients. This can result in delayed growth, weight loss or inflammation of the pancreas.
    • Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. About 20% of teenagers and 40% to 50% of adults with CF develop diabetes.
    • Liver disease. The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed. This can lead to liver problems, such as jaundice, fatty liver disease and cirrhosis ? and sometimes gallstones.
    • Intestinal obstruction. Intestinal blockage can happen to people with cystic fibrosis at all ages. Intussusception, a condition in which a segment of the intestine slides inside an adjacent section of the intestine like a collapsible telescope, also can occur.
    • Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine. DIOS requires urgent treatment.

    Reproductive system complications

    • Infertility in men. Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) is either blocked with mucus or missing entirely. Certain fertility treatments and surgical procedures sometimes make it possible for men with CF to become biological fathers.
    • Reduced fertility in women. Although women with cystic fibrosis may be less fertile than other women, it's possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of CF, so be sure to discuss the possible risks with your doctor.

    Other complications

    • Thinning of the bones (osteoporosis). People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones. They may also experience joint pain, arthritis and muscle pain.
    • Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. This makes them prone to dehydration, especially with exercise or in hot weather. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.
    • Mental health problems. Dealing with a chronic illness that has no cure may cause fear, depression and anxiety.

    References:

    1 https://ghr.nlm.nih.gov/condition/cystic-fibrosis 2 https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700 3 https://www.healthline.com/health/cystic-fibrosis 4 https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/ 5 https://www.medicalnewstoday.com/articles/147960 6 https://www.webmd.com/children/what-is-cystic-fibrosis#1 7 https://www.medicinenet.com/cystic_fibrosis/article.htm 8 https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis

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