Cystic Fibrosis - home health advice

Overview
Definition

Cystic fibrosis (CF) is a fatal, multisystem disease. It is autosomal recessive, resulting from mutations in the CF transmembrane regulator (CFTR) protein, which is a chloride channel found in exocrine tissue. Prevalence varies by ethnicity. In the United States, CF is diagnosed once in every 2,000 to 3,000 Caucasian live births, but once in every 17,000 African American live births. CF typically is diagnosed in childhood after a chronic lung disease or obstruction. Significant improvements in treatment have pushed the median survival rate to approximately 30 years of age.
Etiology

CF is a genetically inherited defect, causing abnormal chloride and sodium secretions across epithelial cell membranes.
Risk Factors

Genetic predisposition
Signs and Symptoms

* Chronic obstructive lung disease thick, viscous mucus secretions; repeated infection
* Changes in color and amount of sputum
* Chronic cough, possibly with blood streaking
* Fever
* Wheezing
* Bronchitis
* Chronic sinusitis
* Asthma
* Nasal polyps
* Malnutrition weight loss, failure to thrive in infants, abdominal distention
* Excessive salt in sweat, dehydration
* Meconium ileus failure of infant to pass stool
* Intestinal obstruction distention, pain, flatulence, weight loss
* Fatigue
* Pancreatitis, cirrhosis
* Late onset of puberty, infertility

Differential Diagnosis

* Asthma
* Appendicitis
* Lymphoma
* Sarcoidosis
* Pneumonia
* Tuberculosis
* Immotile cilia syndrome
* Eosinophilic granuloma

Diagnosis
Physical Examination

Patient appears with apparent weight loss, chronic cough, mucus-filled secretions, increased chest diameter, and possibly distended abdomen. Nasal obstruction and polyps are often visible.
Laboratory Tests

* Sputum test culture bacteria to determine choice of antibiotic therapy
* Sweat analysis more than 60 mEq/L of chloride indicates CF
* Genetic screening supports diagnosis
* 72-hour fecal fat analysis of stool

Pathology/Pathophysiology

All affected tissue has abnormal ion transport function; otherwise, pathology is organ-specific.

Pulmonary:

* Increased transepithelial electrical potential increased sodium ion rates and decreased chloride ion permeability, resulting in dehydrated, mucus-filled lungs
* Chronic infections Pseudomonas aeruginosa and other Pseudomonas, Staphylococcus aureus
* Increased viscosity limits ciliary motility, allows bacterial growth
* Hyperchloremic, thick secretions
* Electrolyte imbalance
* Lung abscess
* Eventually, bronchiolitis, bronchiectasis, digital clubbing, cor pulmonale, irreversible lung failure

Gastrointestinal:

* Pancreatic exocrine enzyme insufficiency epithelium, lacking chloride and water secretion, cannot flush mucins from intestinal crypts, which eventually destroys the pancreas; steatorrhea; malabsorption of fat-soluble vitamins
* Edematous ileocecal bowel with obstruction
* Liver deficient hepatic chloride and water secretions leads to retention of biliary secretions and cirrhosis
* Deficient gallbladder salt and water secretions result in cholecystitis and cholelithiasis

Sweat glands: impaired chloride and sodium absorption across ductal epithelial cells
Imaging

* Chest radiography hyperinflation, peribronchial thickening, mucus plugs, cystic cavities, bronchiectasis
* Computerized tomography bronchiectasis, localized airway thickening
* Abdominal radiograph for abdominal obstruction

Other Diagnostic Procedures

* Spirometric measurement
* Serum concentration of immunoreactive trypsin infant screening
* Clinical features including foul-smelling, large, greasy stools

Treatment Options
Treatment Strategy

CF is a fatal disease, but complications can be delayed with careful management. Any of the following general measures may be part of the treatment plan.

* Chest physiotherapy aids in preventing disease progression; manual percussion, postural drainage, breathing exercises; 20 to 30 min tid to qid; various mechanical modalities available (e.g., ThAirapy Vest)
* Oxygen alleviates dyspnea, may reduce pulmonary hypertension
* Gastrointestinal obstruction water-soluble contrast enema; polyethylene glycol-electrolyte solution
* Liver, gallbladder conventionally treated

Drug Therapies

Anti-inflammatory drugs reduces rate of lung deterioration; use for concurrent asthma.

* Ibuprofen titrate to peak serum level of 50 to 100 mcg/mL, monitor renal function
* Prednisone 1 to 2 mg/kg every other day; side effects include growth failure, hypertension, cataracts

Recombinant human DNAse reduces viscosity of airway secretions, increasing air flow; 2.5 mg vials daily or bid, delivered via nebulizer.

Inhaled beta-adrenergic agonists or anticholinergics short-term control of airway constriction.

Antibiotics

* Oral for increased cough or mucus; cephalosporins or a semisynthetic penicillin
* Inhaled: for bacterial suppression tobramycin (300 to 600 mg bid) 28 day cycle, via a compressor and nebulizer; side effect ototoxicity; for acute exacerbation gentamicin 80 mg tid, 2 mL of solution added to 1 mL of normal saline via a standard home nebulizer; side effect: ototoxicity
* Intravenous aminoglycosides typically combine with another class; hospitalize because symptoms worsen as secretions mobilize; monitor renal function

Surgical Procedures

* Heart-lung transplant significant improvement in pulmonary function, no disease recurrence, 50% survival rate at 5 years
* Gastrointestinal obstruction may require surgery

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.
Nutrition

* Diet can profoundly affect the severity of cystic fibrosis. It is imperative to limit foods that increase mucus production: dairy (especially milk, cheese, and ice cream), peanuts, oranges, bananas, sugar, saturated fats, wheat and gluten-containing grains (barley, oats, and rye), excessive meat, and salt. Foods that reduce mucus should be liberally included in the diet (garlic, onions, watercress, horseradish, mustard, umeboshi plums, parsley, celery, rose hips tea, pickles, and lemon).
* Remove all food allergens; suspect wheat, dairy, and eggs. Consider a five-day rotation diet to minimize sensitivities.
* Increase anti-inflammatory oils (nuts, seeds, cold-water fish) and medium chain triglycerides (caprylic acid).
* Pancreatic enzymes with meals (1,000 lipase units per kg for patients under 4 years, 500 units over 4 years)
* Antioxidants: selenium 200 mcg/day, vitamin E 400 IU/day, beta-carotene 25,000 IU/day, and vitamin C 500 to 1,000 mg bid to tid; all protect lung tissue
* N-acetyl cysteine 200 mg tid to help thin mucus
* Zinc 10 to 30 mg/day to support immunity
* Quercetin (250 to 500 mg before meals) helps to reduce inflammation secondary to food sensitivities and compromised digestion.

Herbs

Herbs may be used as dried extracts (pills, capsules, or tablets), teas, or tinctures (alcohol extraction, unless otherwise noted). Dose for teas is 1 heaping teaspoon herb/cup water steeped for 10 minutes (roots need 20 minutes).

* To liquify mucus, mix equal parts of four to six of the following herbs: thyme (Thymus vulgaris), Indian tobacco (Lobelia inflata), anise (Pimpinella anisum), hyssop (Hyssopus officinalis), licorice root (Glycyrrhiza glabra), and rosemary (Rosemarinus officinalis); 20 to 60 drops bid to qid.
* To stimulate the pancreas, mix equal parts of blue flag (Iris versicolor), dandelion (Taraxacum officinale), and fringe tree (Chionanthus virginicus); 10 to 15 drops in warm water before meals.
* For acute infection, combine equal parts of coneflower (Echinacea purpurea), goldenseal (Hydrastis canadensis), thyme (Thymus vulgaris), wild indigo (Baptisia tinctoria), and elecampane (Inula helenium) with 15 drops of cayenne (Capsicum annuum); 20 to 30 drops every three to four hours.

Homeopathy

An experienced homeopath would consider an individual's constitutional type to prescribe a more specific remedy and potency. Some of the most common acute remedies are listed below. Acute dose is three to five pellets of 12X to 30C every one to four hours until symptoms resolve.

* Antimonium tart for rattling, unproductive cough with cyanosis about the mouth, weakness, and irritability
* Carbo vegetabilis for dyspnea with anxiety, air hunger, and collapse
* Laurocerasus for collapsed states with cyanosis, cold sensation in the chest, and fainting episodes

Acupuncture

May help stimulate respiratory function and enhance immunity
Massage

Therapeutic massage, particularly with postural drainage, is an essential part of treatment of cystic fibrosis.
Patient Monitoring

* Pulmonary function tests every three to six months
* Chest radiography every two to four years; yearly with complication

Other Considerations
Prevention

* Regular visits to CF centers lowers morbidity
* Chest physiotherapy delays progression
* Influenza vaccination

Complications/Sequelae

* Pulmonary exacerbation intravenous antibiotics; supplemental oxygen; leads to respiratory failure
* Biliary cirrhosis
* Minor hemoptysis blood streaking in the sputum
* Major hemoptysis life threatening, requires supplemental oxygen, endotracheal intubation, bronchial artery embolization, or lung resection
* Pneumothorax rupture of subpleural blebs; tube thoracostomy, surgery
* Rectal prolapse from chronic cough, constipation, diarrhea; rapid manual reduction prevents edema
* Gastroesophageal reflux
* Cardiac disease secondary to cor pulmonale

Prognosis

* Respiratory problems account for 95% of morbidity and mortality
* Median survival approximately 30 years

Pregnancy

Women:

* Monitor for diabetes
* Infertility possible from increased cervical mucus intrauterine insemination
* Genetic counseling, DNA testing of partner determines degree of risk
* 90% of completed pregnancies result in viable births

Men: absence of vas deferens (from altered hypoplasia and prostatic secretions) contributes to azoospermia
References

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Behrman R. Nelson Textbook of Pediatrics. 15th ed. Philadelphia, Pa: W.B. Saunders; 1996.

Blumenthal M, ed. The Complete German Commission E Monographs, Boston, Mass: Integrative Medicine Communications; 1998:466.

Bone R. Pulmonary & Critical Care Medicine. 1998 ed. St. Louis, Mo: Mosby-Year Book; 1998.

Dambro MR. Griffith's 5-Minute Clinical Consult. 1999 ed. Baltimore, Md: Lippincott Williams & Wilkins, Inc.; 1999.

Fauci AS, Braunwald E, Isselbacher KJ, et al, eds. Harrison's Principles of Internal Medicine. 14th ed. New York, NY: McGraw-Hill; 1998.

Morrison R. Desktop Guide to Keynotes and Confirmatory Symptoms. Albany, Calif: Hahnemann Clinic Publishing; 1993:25, 26, 103, 221.

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Yamada T, ed. Textbook of Gastroenterology. 2nd ed. Philadelphia, Pa: Lippincott-Raven Publishers; 1995.