Cystic Fibrosis – What is it, Symptoms and Treatments

Cystic Fibrosis – What it is, Symptoms and Antibiotic Treatments. Furthermore, Cystic Fibrosis is an inherited disorder that causes severe damage to the lungs , digestive system, and other organs in the body. Cystic Fibrosis affects the cells that produce mucus, sweat and digestive juices . These secret fluids are normally thin and slippery. But in people with Cystic Fibrosis , a defective gene causes the secretions to become sticky and thick. Instead of acting as a lubricant, secretions connect tubes, ducts and passages, especially in the lungs and pancreas.

Although Cystic Fibrosis requires daily care, people with the condition are generally able to attend school and work, and often have a better quality of life than people with Cystic Fibrosis in previous decades. Improvements in screening and treatments mean that people with Cystic Fibrosis can now live into their mid-30s, on average, and some are living into their 40s and 50s.

Causes of Cystic Fibrosis:  In Cystic Fibrosis , a defect (mutation) in a 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 must inherit one copy of the gene from each parent to have the disease. If the children only inherit one copy, they will not develop Cystic Fibrosis . However, they will be carriers and possibly pass the gene on to their own children.

Cystic Fibrosis Symptoms:  Screening of newborns for Cystic Fibrosis is now performed in every state in the United States. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening, it is important to be aware of the signs and symptoms of Cystic Fibrosis . Cystic Fibrosis signs and symptomsvary, depending on the severity of the condition. Even in the same person, symptoms may get worse or better as time passes. Some people may not experience symptoms until adolescence or adulthood.

People with Cystic Fibrosis have a higher than normal level of salt in their sweat. Parents can usually taste the salt when they kiss their children. Most other signs and symptoms of Cystic Fibrosis  affect the respiratory system and digestive system. However, adults diagnosed with Cystic Fibrosis are more likely to have atypical symptoms, such as recurrent episodes of inflamed pancreas (pancreatitis), infertility, and recurrent pneumonia.

Respiratory Signs and Symptoms:  The thick, sticky mucus associated with Cystic Fibrosis clogs the tubes that carry air in and out of your lungs . This can cause signs and symptoms such as:

• A persistent cough that produces thick mucus (sputum)
• wheezing
• Shortness of breathe
• exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or stuffy nose

Digestive Signs and Symptoms:  Thick mucus can also block the tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines cannot fully absorb the nutrients in the foods you eat. The result is often:

• Bad-smelling stools and greasy stools
• Greater weight gain and growth
• Bowel blockage, particularly in newborns (meconium ileus)
• severe constipation

Frequent straining when passing stool can cause part of the rectum – the end of the large intestine – to protrude out of the anus (rectal prolapse). When this occurs in children, it could be a sign of Cystic Fibrosis . Parents should consult a physician experienced in Cystic Fibrosis . Rectal prolapse in children can sometimes require surgery. Rectal prolapse in children with Cystic Fibrosis is less common than in the past, which may be due to earlier testing, diagnosis, and treatment of Cystic Fibrosis .

When to See a Doctor:  If you or your child has symptoms of Cystic Fibrosis – or if someone in your family has Cystic Fibrosis – talk to your doctor about testing for the disease. Seek immediate medical care if you or your child has difficulty breathing.

Cystic Fibrosis Risk Factors:  Family history. As Cystic Fibrosis is an inherited disorder, it runs in families.

• Race. Although Cystic Fibrosis occurs in all races, it is more common in white people of northern European descent.

Complications of Cystic Fibrosis:  Complications of the respiratory system

• Damaged airways (bronchiectasis): Cystic Fibrosis is a major cause of bronchiectasis, a condition that damages the airways. This makes it more difficult to move air in and out of the lungs and clear mucus from the airways (bronchial tubes).
• Chronic Infections: Coarse mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with Cystic Fibrosis can often have sinus infections, bronchitis, or pneumonia.
• Growths in the nose (nasal polyps): Because the lining inside the nose is inflamed and swollen, it can develop smooth, fleshy growths (polyps).
• Coughing up blood (hemoptysis): Over time, Cystic Fibrosis can cause thinning of the walls of the airways. As a result, teenagers and adults with Cystic Fibrosis may cough up blood.
• Pneumothorax:  This condition, in which air accumulates in the space that separates the lungs from the chest wall, is also more common in older people with Cystic Fibrosis . Pneumothorax can cause chest pain and shortness of breath.
• Respiratory arrest: Over time, Cystic Fibrosis  can damage the lung tissue so much that it no longer works. Lung function usually gradually worsens, and eventually can become fatal.
• Acute Exacerbations: People with Cystic Fibrosis may experience worsening of their respiratory symptoms , such as coughing and shortness of breath, for several days to weeks. This is called an acute exacerbation and requires treatment in the hospital.

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 cannot absorb protein, fat, or fat-soluble vitamins.
• Diabetes: The pancreas produces insulin, which your body needs to use sugar. Cystic Fibrosis increases the risk of diabetes. About 30 percent of people with Cystic Fibrosis develop diabetes by age 30.
• Blocked Bile Duct:  The tube that carries bile from your liver and gallbladder to your small intestine can become blocked and inflamed, leading to liver problems and sometimes gallstones.
• Bowel Obstruction: Bowel obstruction can happen to people with Cystic Fibrosis at all ages. Children and adults with Cystic Fibrosis are more likely than babies to develop intussusception, a condition in which a section of the intestines folds in on itself like an accordion.
• Distal Bowel Obstruction Syndrome (DIOS): DIOS is partial or complete obstruction where the small intestine meets the large intestine.

Reproductive System Complications:  Almost all men with Cystic Fibrosis are infertile because the tube connecting the testicles and prostate (vas deferens) is blocked with mucus or missing completely. Certain fertility treatments and surgical procedures sometimes make it possible for men with Cystic Fibrosis to become biological fathers.

Although women with Cystic Fibrosis may be less fertile than other women, it is possible for them to conceive and have successful pregnancies. Still, pregnancy can make the signs and symptoms of Cystic Fibrosis worse , so be sure to discuss possible risks with your doctor. Other complications:

• Thinning of Bones (Osteoporosis): People with Cystic Fibrosis are at increased risk of developing dangerous thinning of bones.
• Electrolyte Imbalances and Dehydration: Because people with Cystic Fibrosis have saltier sweat, the balance of minerals in the blood can be upset. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.

Diagnosis of Cystic Fibrosis:  To diagnose Cystic Fibrosis , doctors may perform several tests. Newborn Screening and Diagnosis: All states in the US now label newborns for Cystic Fibrosis . Early diagnosis means treatment can start right away.

In a screening test, a blood sample is checked for higher than normal levels of a chemical (immunoreactive trypsinogen, or IRT) released by the pancreas. A newborn’s IRT levels can be elevated due to premature birth or a stressful delivery. For this reason, other tests may be needed to confirm the diagnosis of Cystic Fibrosis .

Genetic testing can be used in addition to checking IRT levels to confirm the diagnosis. Doctors may also perform genetic testing to test for specific defects in the gene responsible for cystic fibrosis . To assess whether a child has cystic fibrosis , doctors may also perform a sweat test when the child is at least 2 weeks old.

In a sweat test, doctors apply a sweat-producing chemical to a small area of ​​skin. They then collect the sweat to test it to see if it is saltier than normal. Tests can be done at a specialist Cystic Fibrosis center .

Tests of Older Children and Adults:  Cystic Fibrosis tests  may be recommended for older children and adults who were not screened at birth. Your doctor may suggest genetic and sweat testing for cystic fibrosis if you have recurrent episodes of inflamed pancreas (pancreatitis), nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility.

Cystic Fibrosis Treatments:  There is no cure for Cystic Fibrosis,  but treatment can relieve symptoms and reduce complications. Close monitoring and early aggressive intervention are recommended. Managing Cystic Fibrosis is complex, so consider getting treatment at a center staffed by physicians and other teams trained in Cystic Fibrosis .

Doctors can work with a multidisciplinary team of physicians and medical professionals trained in Cystic Fibrosis to assess and treat your condition. Treatment goals include:

• Prevention and control of infections that occur in the lungs
• Removing and loosening mucus from the lungs
• Treatment and prevention of intestinal blockage
• Provide proper nutrition

Medications:  Options may include:

• Antibiotics to treat and prevent lung infections
• Anti-inflammatory drugs to decrease swelling in the airways in the lungs
• Mucus-kneading medications to help you cough up mucus, which can improve lung function
• Inhaled medications called bronchodilators that can help keep your airways open by relaxing the muscles around your bronchi
• Oral pancreatic enzymes to help your digestive tract absorb nutrients

For those with Cystic Fibrosis who have certain genetic mutations, doctors may recommend a newer drug called ivacaftor (Kalydeco). This medication can improve lung function and weight and reduce the amount of salt in sweat. It has been approved by the Food and Drug Administration for people with Cystic Fibrosis aged 6 years and older. The dose depends on your weight and age.

Doctors may perform liver function tests and eye exams before prescribing and regularly while you are taking it to check for side effects such as liver function abnormalities and cataracts. For people with a certain genetic mutation aged 12 and over, another drug (Orkambi) is available that combines ivacaftor with a medication called lumacaftor.

The combination of these drugs can improve lung function and reduce the risk of exacerbations. However, some people may experience side effects, such as chest discomfort and shortness of breath, soon after starting the medication. Some people may also have high blood pressure while taking the medication. Doctors may monitor you for any side effects.

Chest Physical Therapy:  Loosening the thick mucus in the lungs makes coughing easier. Physical chest therapy helps to loosen mucus. It is usually done one to four times a day. A common technique is to clap with your hands placed on the front and back of the chest. Certain breathing techniques can also be used to help loosen mucus. Your doctor will instruct you on the type of chest physical therapy he or she recommends for you.

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

• Physical exercise that can improve your condition
• Breathing techniques that can help loosen mucus and improve breathing
• nutritional advice
• advice and support
• Education about your condition

Surgical and other procedures:

• Removal of nasal polyps. Your doctor may recommend surgery to remove nasal polyps that obstruct breathing.
• Oxygen therapy. If your blood oxygen level drops, your doctor may recommend that you breathe pure oxygen to prevent high blood pressure in your lungs  (pulmonary hypertension).
• Endoscopy and lavage. Mucus can be aspirated from an obstructed airway through an endoscope.
• Feeding tube. Cystic Fibrosis interferes with digestion, so you can’t absorb very good foods. Your doctor may temporarily suggest using a feeding tube to provide extra nutrition while you sleep. This tube can be inserted into the nose and guided into the stomach, or it can be surgically implanted in the abdomen.
• Bowel surgery. If a blockage develops in your bowel, you may need surgery to remove it. Intussusception, where a section of bowel has folded in on itself, may also require surgical repair.
• Lung transplantation. If you have severe breathing problems  , life-threatening lung complications, or increased resistance to antibiotics used to treat 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 Cystic Fibrosis — such as sinus infections, diabetes, pancreas problems, and osteoporosis — can still occur after a lung transplant.