Dementia Disease – The Healing Space Clinic

Cystic Fibrosis Disease

BASICS

DESCRIPTION

Generalized, autosomal recessive disorder of infants, children and young adults with widespread dysfunction of the exocrine glands. Characteristics include chronic pulmonary disease, pancreatic insufficiency, abnormally high levels of electrolytes in the sweat, pansinusitis, digital clubbing and less frequently biliary cirrhosis, diabetes mellitus.

System(s) affected: Pulmonary, Gastrointestinal, Endocrine/Metabolic, Reproductive
Genetics: Autosomal recessive mutation of gene on chromosome 7. Linkage detection in families with known disease. Probes for direct detection available.
Incidence/Prevalence in USA: The most common lethal genetic disease. Caucasians: 1 in 2500 births, 1 in 17,000 African-Americans, and low in Native Americans and Asians.
Predominant age: Infants, children and young adults (oldest patient at time of diagnosis was 65)
Predominant sex: Male = Female

SIGNS AND SYMPTOMS

Sweat gland secretions:
- Increased concentrations of sodium and chloride leading to hyponatremia, hypochloremia, arrhythmias
- Dehydration with heat and infections
Respiratory:
- Wheezing, chronic cough, dyspnea, barrel chest, tachypnea
- Cyanosis, digital clubbing
- Nasal polyposis, pansinusitis
- Recurrent bronchitis and pneumonia leading to bronchiectasis
- Predominant flora - Staphylococcus aureus and Pseudomonas aeruginosa. Burkholderia cepacia carries a poorer prognosis.
Gastrointestinal:
- Failure to thrive
- Meconium ileus
- Distal intestinal obstruction syndrome (DIOS)
- Colonic strictures possible with high-dose enzyme replacement (>15,000 U lipase /kg/day)
- Chronic, recurrent abdominal pain
- Gastroesophageal reflux
- Voracious appetite prior to treatment
- Abdominal distension
- Hypoelectrolytemia and alkalosis
- Characteristically frequent, bulky, foul - smelling, pale stool with a high fat content
- Vitamin deficiencies (A,D,E,K)
- Rectal prolapse
Others:
- Delayed weight gain during growth and development
- Retarded bone growth
- Delayed sexual development
- Males ~95% infertile
- Decreased female fertility

CAUSES

Autosomal recessive genetic defect

RISK FACTORS

Positive family history (rarely seen due to recessive nature)

DIAGNOSIS

LABORATORY

Elevation of sodium and chloride concentrations in sweat (quantitative pilocarpine iontophoresis sweat test)
Genetic screening if sweat test inadequate (see Special Tests below)
Stool trypsin and chymotrypsin absent or diminished
72 hour fecal fat excretion - increased fat in stool
Decreased albumin, fat soluble vitamins
CF gene screen (reference lab)
Mucoid Pseudomonas in respiratory secretions. Also S. aureus.

Drugs that may alter lab results: N/A
Disorders that may alter lab results:

Edema
Hypoproteinemia
Inadequate quantities of sweat to study
Adrenal insufficiency

PATHOLOGICAL FINDINGS

Lungs (major problem) - chronic inflammation, inspissated mucus, bronchiectasis with areas of fibrosis and atelectasis
Pancreas - obstructed ducts, acini replaced by fibrotic tissue, cysts, amorphous eosinophilic concretions and thick mucus
Liver - secretions obstruct biliary ducts; focal biliary cirrhosis
Intestine - hypertrophied mucous glands
Males - hypoplasia or atrophy of vas deferens

SPECIAL TESTS

Pulmonary function studies (2-3 times a year)
Sputum culture and sensitivity
Exercise testing
Response to bronchodilators - may show paradoxical drop
In newborns - serum concentration of immunoreactive trypsin reported to be elevated and used as a means of newborn screening. Radioimmunoassay developed for use with dried blood spots that are routinely collected for newborn metabolic screening.
Genetic testing to identify patient defect and analyze family for carrier status or prenatal diagnosis
Echocardiogram

IMAGING

Chest x-ray - hyperaeration, hilar adenopathy, occasional pneumothorax, bronchiectasis, blebs, increased involvement in right upper lobe

DIAGNOSTIC PROCEDURES

Diagnosis made in presence of clinical symptoms and positive sweat test, gene screen

TREATMENT

APPROPRIATE HEALTH CARE

Outpatient usually
Inpatient during infections or other crisis
Home care for IV antibiotics

GENERAL MEASURES

Care by experienced physician and team (respiratory therapist, nurse, nutritionist, physical therapist, counselor, social worker)
Goals are to prevent and treat respiratory failure and pulmonary complications
Postural drainage and chest physiotherapy - adjuncts include flutter valve and CPT vest (expensive)
Pancreatic enzyme replacement
Regular exercises for fitness
Press for adequate growth through good nutrition - supplements may be needed
Aerosol B2 agonists; consider ipratropium
Antibiotics - especially to target Pseudomonas, Staphylococcus
DNase: aerosolized mucolytic 2.5 mg neb q day. Use pari-plus nebulizer cup.
Oxygen: when needed
Monitor sleeping O2 stats
Barium enemas or surgery for unrelieved meconium ileus (newborn)
Barium enemas or surgery for unrelieved meconium ileus (newborn)
For fecal accumulation and intussusception in adults - enemas of diatrizoate sodium or Golytely per NG
Early identification of diabetes, and treatment with insulin
Assisted ventilation with BiPAP is acceptable and temporary

SURGICAL MEASURES

Surgery may be indicated for some complications
Organ transplants possible for lung, liver, pancreas

ACTIVITY

Physical conditioning to the extent possible for cardiorespiratory fitness (does not improve pulmonary function)

DIET

Allow liberal salting of foods per patient preference
High protein
High calories (1.5 x recommended for general population)
High fat (previously not recommended)
Vitamin supplements (double RDA)
May need supplemental feeds, oral or by gastrostomy

PATIENT EDUCATION

Written information and support: Cystic Fibrosis Foundation, 6931 Arlington Road, Ste. 2000, Bethesda, MD 20814, (800)344-4823

FOLLOW UP

PREVENTION/AVOIDANCE

In prenatal situations
- Genetic counseling
- Prenatal diagnosis for future pregnancies
For complications
- For respiratory infections - maintain pertussis and measles immunity; annual influenza immunization
- Avoid general anesthetics. Consider epidural, spinal, or local.
- Good medical teamwork in the management of the multifaceted problems of the disease

POSSIBLE COMPLICATIONS

Atelectasis
Pneumothorax
Hemoptysis
Right heart failure
Pulmonary hypertension
Pulmonary emphysema
Digital clubbing
Hypertrophic pulmonary osteoarthropathy
Diabetes: affects growth, lung function
Metabolic alkalosis
Volume depletion
Bleeding esophageal varices
Symptomatic biliary cirrhosis
Intestinal obstruction
Female fertility rate about 80% of normal
Numerous psychosocial aspects
Malnutrition
Retarded growth
Hypovitaminosis A (increased ICP)
Hypovitaminosis E (chemolytic anemia)
Hypovitaminosis K (bleeding tendency)

EXPECTED COURSE AND PROGNOSIS

Largely dependent on pulmonary involvement
Prognosis improving due to early detection and aggressive treatment
Median survival is to age 31

MISCELLANEOUS

ASSOCIATED CONDITIONS

See Complications
Pansinusitis

AGE-RELATED FACTORS

Pediatric: Diagnosis usually confirmed in infancy or early childhood but some go undetected until adolescence. Newborn screening methods are in development. Psychosocial considerations
Geriatric: N/A
Others: N/A

PREGNANCY

If cystic fibrosis patient's condition (pulmonary and nutrition) good at start of pregnancy, usually returns to that level following birth. If these conditions are compromised before pregnancy, they may deteriorate following birth.

OTHER NOTES

Advise genetic counseling for at-risk individuals
Encoded protein on long arm of chromosome 7 contains 1480 amino acids
Multiple types of gene defects are possible (>500 defined). Most common mutation (70%) is DeltaF 508.

ABBREVIATIONS

CF = cystic fibrosis
IPPB = intermittent positive pressure breathing

Clinical Investigations

ROLE OF HOMOEOPATHY

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