Cystic Fibrosis is a inherited disease that impacts the entire body, producing ongoing damage and an early death. The most common symptom is labored breathing due to frequent respiratory and lung infections. The infections can be treated with antibiotics and other drugs but are not always curable. Cystic Fibrosis is also referred to as CF. Cystic Fibrosis is the most common of inherited fatal diseases. The genetic code in the body that produces sweat, digestive juices and mucus goes haywire. Therefore, Cystic Fibrosis can affect any organ that has ducts or produces fluid or mucus.
People of European descent and Ashkenazi Jews have a greater prevalence of Cystic Fibrosis: one in twenty-two is a carrier for the disease. There is no cure for the disease and most people with Cystic Fibrosis die in their 20s and 30s from lung damage and failure.
Symptoms of CF are based determined by the age of the patient, the organs affected and the types of infections experienced.
The entire body is affected by CF and symptoms affect growth, reproduction, digestion and breathing. A newborn may display symptoms of thick bowel movements that impact the bowels and poor weight gain. An older child may display growth problems, malnutrition and lung disease. Fertility issues become apparent, usually when a patient tries to conceive.
When the disease primarily affects the lungs, the symptoms are constant coughing, inability to exercise normally and large volume of phlegm production. CF in the lung produces clogged airways from inflammation. The irritation and infection result in injury and structural changes in the lungs. Bacteria that that normally exist in thick mucus of the lungs grow uncontrollably.
Other symptoms of CF in the lungs include bloody phlegm, coughing u blood, pulmonary hypertension (high blood pressure in the lungs), low blood gas levels in the blood stream, heart failure and respiratory failure. Many infections can settle in the lungs – such as allergic bronchopulmonary aspergillosis and mycobacterium avium complex. Allergic bronchopulmonary aspergillosis is caused by a fungus, Aspergillus fumigatus. Mycobacterium avium complex (MAC) is caused by bacteria related to tuberculosis. Both of these diseases cause significant lung damage. MAC does not respond to typical antibiotic treatment.
Mucus in the sinuses is very thick and can cause infection and blockage. The symptoms are facial pain, nasal drainage, fever, headaches. Scarring and nasal polyps develop due to chronic sinus infections.
Before blood tests could detect cystic fibrosis and prenatal/newborn screening was available, babies who did not pass meconium were often diagnosed with CF. Meconium Ileus (complete blockage of the intestine by the meconium) happens in 10% of newborns with cystic fibrosis.
The thick mucus that occurs in the sinuses and lungs also can occur in the pancreas. This causes the digestive enzymes to be blocked in the pancreas and impacts digestion. CF can cause permanent damage to the pancreas which leads to malabsorption and malnutrition. Patients with CF experience a higher incidence of heartburn, intestinal blockage and constipation. Adult patients may suffer from distal intestinal obstruction syndrome with is caused by a blockage of thickened stools.
Liver problems can also occur in CF patients. Bile is thicker than normal and can block the bile ducts causing liver damage. This can lead to cirrhosis, which can cause increased toxins in the blood and failure to manufacture important proteins, such as blood clotting factors.
Cystic Fibrosis can also impact the endocrine system and therefore, growth. The pancreas produces insulin that monitors blood glucose levels. CF damages the ducts of the pancreas which leads to diabetes, and vitamin D deficiency, which also causes problems with calcium and phosphorus issues in the body. The malabsorption of vitamin D causes osteoporosis, a weakening of the bones and risk of fractures. The effects of CF is low oxygen level which can cause clubbing of fingers and toes.
CF affects fertility in both sexes. Only 3% of men who have CF can bear children. Sperm production is usually normal, but the vas deferens, tubes connecting the testicles to the ejaculatory duct of the penis, is missing. Men who are evaluated for infertility can be found to have congenital absences of the vas deferens which can indicate an undiagnosed case of mild CF. Women can have fertility issues because of thickened cervical mucus and malnutrition. Malnutrition and malabsorption causes irregular ovulation and absence of menstruation.
Cystic Fibrosis can be diagnosed with newborn screening, genetic testing or sweat testing. Newborn screening involves testing for elevated amounts of the enzyme trypsin in the bloodstream. Most patients aren’t diagnosed as newborns, because the test is not a routine newborn screen.
The most common test is the sweat test. Pilocarpine, a medication which causes sweating, is applied to the skin. An electrode running an electric current to the skin will cause an increased sweating, called iontonphoresis. The sweat is collected on filter paper or into a capillary tube. Analysis of the sweat is performed to check for increased sodium and chloride, which is present in the sweat of patients with CF.
Genetic testing will determine if the patient has a mutation in the CTRF gene. The protein that is created by this gene behaves as a channel connecting the inner part of the cell to surrounding fluid. The channel is responsible for controlling chloride movement from the outside of the cell to within the cell. When the gene is mutated chloride builds up in the cell. The chloride normally bonds with sodium in the body, so when a patient has CF, the sweat contains high amounts of sodium because there is no bonding with the chloride.
Couples who have a close family member with CF can be tested to determine if they are carriers of this disease. Prenatal testing does not indicate a better chance of survival or better treatment for the newborn, but provides parents with information about the health of their unborn child. Each parent must be a carrier of a mutated copy of the CTRF gene. CF can result from more than a thousand different gene mutations.
Other tests are used to determine the complications of Cystic Fibrosis and to monitor the progression of the disease. X-rays and CT scans examine the lung for damage, inflammation or infection. Evaluating sputum will identify which bacteria are causing a lung infection, in order to determine the antibiotic course of treatment. Pulmonary function tests are used to measure the functioning of the lung and the response or need for further antibiotic treatments. Blood tests are used to determine pancreas, kidney and liver functioning. A DEXA screen tests for osteoporosis. A fecal elastase test is used to determine the levels of digestive enzymes in the gastrointestinal tract.
Treatment for cystic fibrosis is focused on restraining and treating lung damage. The damage to the lung is caused by the thick mucus and infections. Intravenous, oral and inhaled antibiotics are the primary treatment for acute and chronic lung infections. Inhalational medication and mechanical devices are used to clear and thing thickened mucus in the lungs. When the pancreas is affected, insulin and enzyme replacement therapy are used.
Antibiotics are used when a CF patient contracts pneumonia or there is a decrease in lung function. Bacteria that are common in cystic fibrosis are resistant to many antibiotics and intravenous treatment with antibiotics can last weeks. The prolonged therapy often requires hospitalization and the insertion of a PICC line or a Prot-a-Cath, which are durable, surgically emplanted IVs. Inhaled therapy is given for months at a time in order to strengthen lung functioning by killing or slowing the growth of bacteria. Oral antibiotics are often prescribed as a prophylaxis to prevent infection or control a chronic infection. Some patients can go years without an infection, while others may need to be hospitalized several times a year.
Physical therapists pound on the chest of CF patients to loosen and dislodge sputum in the lungs, which is called percussive therapy. Mechanical devices such as a ThAIRapy Vest and intrapulmonary percussive ventilator are used for percussive therapy. These products are portable and designed for in home use. Aerobic exercise is beneficial because it improves cardiovascular health and increases sputum clearance from the lungs.
Inhalant medication is also known as aerosolized and works by loosening secretions in the lungs. Other medications such as albuteral and ipratropium bromide increase the size of airways by relaxing surrounding muscles.
Breathing support becomes necessary when lung disease becomes severe. A bilevel positive airway pressure ventilator pushes air into the lungs and is worn by patients when they sleep.
As noted previously, newborns may have meconium ileus, which is a blockage due to hard meconium. This requires surgery to repair. Adults who have distal intestinal obstruction syndrome do not usually require surgery.
Pancreatic damage requires that digestive enzymes and vitamins need to be supplemented. Often a CF patient will develop diabetes due to damage of the pancreas and loss of the islets of Langerhans cells, which are responsible for creating insulin. Osteoporosis can be prevented by increasing vitamin D, calcium and bisphosphonates.
Sinus infections in CF patients are treated with a long course of antibiotics. Nasal polyps can be treated with surgery, if the nasal passages become severely obstructed. Nasal steroid inhalants are used to decrease inflammation and swelling.
Lung transplants become necessary for patients with CF when the lung functioning has severely declined. Both lungs must be replaced, because both contain bacteria that would affect a healthy lung. Sometimes a pancreas and liver transplant are performed at the same time to ameliorate liver disease and diabetes. Lung transplants are considered when breathing relies solely on mechanical devices.
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