Conditions

Cystic Fibrosis

Cystic fibrosis is a fatal genetic disease that results when the defective gene transforms the protein called the cystic fibrosis transmembrane conductance regulator (CFTR) and causes it to produce a mucus too thick and too abundant for the body to excrete.

All human cells (except red blood cells, eggs, and sperm) contain two copies of this gene, one from each parent. Cystic Fibrosis results when both copies of the "CF gene" are abnormal. If one copy is abnormal and the other normal, an individual is said to be a carrier; he or she will show no signs of CF, but is capable of passing a defective gene on to offspring. Statistically, a child of two carrier parents has a 1-in-4 chance of inheriting CF; a 1-in-4 chance of being completely free of the mutant gene, and a 1-in-2 chance of being a carrier.

A person with cystic fibrosis often develops blockages and secretions in the lungs that in turn breed bacteria. This leads to chronic lung infections. This coupled with malnutrition due to the inability to absorb many foods, often leads to serious complications and almost always death. Significant improvements in treatment have pushed the median survival rate to approximately 30 years of age.

Signs and Symptoms:

Most symptoms show up early in life and include:

• Secretion of large quantities of thick, sticky mucus that blocks lung passages.
• Bacterial infections that develop in the resulting congestion. This bacteria results in chronic coughing and wheezing, difficulty breathing, and recurrent lung infections. Once established, the bacteria remain in the lungs and are responsible for repeated outbreaks of infection. They form their own dense biofilm structure and are immune to most current treatments. They also produce toxic proteins that can cause tissue damage and weaken the immune system.
• Fever
• Thick secretions also often obstruct the release of pancreatic enzymes, resulting in digestive difficulties and malabsorption problems.
• Pain from eating due to digestive difficulties.
• Failure to gain weight normally (in children) due to malabsorption problems.
• Profuse sweating
• Abnormally high concentration of sodium, potassium, and chloride salts.
• Clubbing of the fingers and toes.
• Greasy, bulky, foul-smelling stools
• Salt-tasting skin
• Reproductive organs may be affected, causing infertility in almost all men and some women.

Diagnosis:
After symptoms have been confirmed with a physical examination the doctor may swab some cells from the inside of the cheek and have them examined for the presence of the defective genes. Another widely used test for CF is the electrolyte sweat test. This test detects the excessive amounts of electrolytes (charged mineral salts) found on the skin of many people with CF. If there is doubt about the diagnosis, the sweat test can be confirmed by performing a genetic test on a blood sample.

Treatment Options:

The goals of therapy are maintenance of adequate nutritional status, prevention or aggressive therapy of pulmonary and other complications, encouragement of physical activity, and provision of adequate psychosocial support. With appropriate support, most patients can make an age-appropriate adjustment at home and school. Despite myriad problems, the occupational and marital successes of patients are impressive.

Traditional Treatments:

Cystic fibrosis is a fatal disease, but complications can be delayed with careful management. This management is aimed at controlling complications.

For pancreatic insufficiency:

Pancreatic enzyme replacement as powder (in infants) or capsules should be given with all meals and snacks.

Diet therapy includes sufficient calories and protein to promote normal growth (30 to 50% more than the usual recommended dietary allowances may be required). A normal-to-high total fat intake to increase the caloric density of the diet and salt supplementation during periods of thermal stress and increased sweating may be needed. Formulas containing protein hydrolysates and medium chain triglycerides may be used instead of modified whole milk formulas for infants with severe pancreatic insufficiency. Glucose polymers and medium chain triglyceride supplements can be used to increase caloric intake. In patients who fail to maintain adequate nutritional status, enteral supplementation via a nasogastric tube, gastrostomy, or jejunostomy may restore normal growth and stabilize pulmonary function.

For intestinal obstruction:

Obstruction can sometimes be relieved by enemas containing a hyperosmolar or iso-osmolar radiopaque contrast material; otherwise, surgical enterostomy may be necessary. After the newborn period, episodes of partial intestinal obstruction (distal intestinal obstruction syndrome) can be treated with enemas containing a hyperosmolar or iso-osmolar radiopaque contrast material or acetylcysteine or by oral administration of a balanced intestinal lavage solution. A stool softener may help prevent such episodes.

Pulmonary manifestations:

• Immunization against pulmonary infections such as pertussis, Haemophilus influenzae, varicella, and measles immunity and influenza is very important. (In unvaccinated patients, amantadine can be used for prophylaxis against influenza A).
  Routine use of pneumococcal vaccine is not advocated.
• Chest physical therapy consisting of postural drainage, percussion, vibration, and assisted coughing is recommended at the first indication of pulmonary involvement.
• In older patients, alternative airway clearance techniques such as active cycle of breathing, autogenic drainage, flutter valve device, positive expiratory pressure mask, and mechanical vest therapy may be effective.
• For reversible airway obstruction, bronchodilators may be given orally and/or by aerosol and corticosteroids by aerosol.
• Oxygen therapy is indicated for patients with severe pulmonary insufficiency.
• In general, mechanical ventilation is not indicated for patients with chronic respiratory failure. Its use should be restricted to patients with good baseline status in whom acute respiratory failure develops, in association with pulmonary surgery, or in patients awaiting lung transplantation who develop hypercapnic respiratory failure.
• Noninvasive positive pressure ventilation by nasal or facemask also can be beneficial.
• Oral expectorants are widely used, but few data support their efficacy.
• Cough suppressants should be discouraged.
• Long-term daily aerosol administration of dornase alfa (recombinant human deoxyribonuclease) has been shown to slow the rate of decline in pulmonary function and to decrease the frequency of severe respiratory tract exacerbations.
• Pneumothorax can be treated by closed chest tube thoracostomy drainage. Open thoracotomy or thoracoscopy with resection of pleural blebs and sponge abrasion of the pleural surfaces is effective in treating recurrent pneumothoraces.
• Embolizing the involved bronchial arteries treats massive or recurrent hemoptysis.

Complementary and Alternative Therapies:

Nutritional and herbal therapies may help decrease the severity of progression, protect organ function, and minimize opportunistic infections in cystic fibrosis. Homeopathy can be used concurrently, preferably constitutionally, although acute remedies may be used as needed.

Nutritional Supplementation:

• Pancreatin is needed for protein digestion. Follow label directions and take with meals.
• Proteolytic enzymes aids in controlling infection, helps digestion, and thins the mucous secretions of the lungs. Follow label directions and take on an empty stomach.
• Vitamin A aids in the maintenance and repair of epithelial tissue, which makes up the mucous membranes. Follow label directions.
• Carotenoid complex with beta-carotene works with vitamin A. Follow label directions.
• Vitamin B complex aids in digestion, healing and tissue repair. Take 100 mg of each major B vitamin 3 times daily with meals (individual amounts of each B vitamin in a complex will vary).
• Extra vitamin B2. Take 50mg 3 times daily.
• Vitamin B12 is needed for proper digestion and assimilation of nutrients, including iron. Use lozenge, sublingual, or spray form.
• Vitamin C with bioflavonoids is useful for tissue repair and immune function. Take 3,000-6,000 mg daily in divided doses.
• Vitamin E repairs tissue and prevents cell damage. Use d-alpha-tocopherol form. Follow the label direction.
  Warning: Do not take vitamin E supplements if you are on a blood thinner.
• Vitamin K is needed for proper digestion. Take 100 mcg twice daily.
• Essential fatty acids (flaxseed or primrose oil are good sources) relieves inflammation. Follow the label directions.
• A protein supplement or free-form amino acid complex is needed for healing. Use protein from a vegetable source or a free-form amino acid complex. Follow the label directions.
• Zinc is important in immune function and healing of tissue. Use zinc gluconate lozenges or OptiZinc for best absorption. Take 50 mg daily. Do not exceed a total of 100 mg daily from all supplements.

Alternative Therapies:

• Alfalfa extract supplies vitamin K and necessary minerals, which are often deficient in those with cystic fibrosis due to absorption problems. It is also a good source of chlorophyll.
• Boswella, bromelain, cayenne, ginger, and peppermint can aid in reducing inflammation.
• Expectorant herbs such as cayenne, elecampane, garlic, horehound, hyssop, and mullein may be effective in helping to clear some of the congestion.
• Eucalyptus, garlic, onion, tea tree oil and thyme have natural antiseptic properties and help fight infections.
• Echinacea, licorice, and Siberian ginseng are good for building up the immune system. Warning: Do not use licorice on a daily basis for more than 5 days as it may cause an elevation in blood pressure. Do not use licorice if you have a history of high blood pressure.
• Do not use Siberian ginseng if you have hypoglycemia, high blood pressure, or a heart disorder.
• Other herbs beneficial for cystic fibrosis include ginger, goldenseal, and yarrow tea.
• Contact your local homeopathic practitioner for a comprehensive constitutional remedy program.

General Recommendations:

• Eat a diet consisting of 75% raw fruits and vegetables, and raw nuts and seeds.
• Make sure your intake of calories, protein, and other nutrients is adequate. People with cystic fibrosis require as much as 50% more of many nutrients than normal.
• Include in the diet foods that are high in germanium, such as garlic, shiitake mushrooms, and onions.
• During hot weather, drink plenty of fluids and increase your salt intake.
• Do not eat foods that stimulate secretions by the mucous membranes. Cooked and processed foods cause excess mucus buildup and drain the body of energy. These foods are harder to digest.
• Do not eat animal products, dairy products, processed foods, sugar, or white flour products.
• When you must take antibiotics, take acidophilus to replace "friendly" bacteria.

Warnings:

• If you have high blood pressure do not take licorice.
• Do not take vitamin E if you are on blood thinners.
• Do not use licorice on a daily basis for more than 5 days as it may cause an elevation in blood pressure.
• Do not use Siberian ginseng if you have hypoglycemia, high blood pressure, or a heart disorder.