Cystic fibrosis (CF) is an inherited condition. It can have many symptoms, affecting different parts of the body, particularly the lungs and digestive system. CF is the most common inherited disease in white people, affecting about 1 in every 2,500 children born. It is much rarer in people of African or Asian descent.
About one in five babies with CF are diagnosed at birth, when their GI tract becomes blocked by extra thick meconium (the black tar-like bowel contents that all babies pass soon after birth). This condition may require surgery.
Just over half of people with CF are diagnosed as babies because they are not growing or putting on weight as they should. This is because the pancreas is not producing enzymes which pass into the gut as food leaves the stomach. Without these enzymes, the fat in food cannot be properly digested. In children who are affected, the fat passes straight through the gut. The child does not benefit from the energy from the fat. Since the stools contain an excess of fat, they are oily and very smelly.
CF is a “multi-system” disease, meaning that it affects many body organs. However, most of the symptoms have to do with the lungs and the GI tract.
In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. This removes debris and bacteria. In someone with CF, this mucus is excessively sticky and cannot perform this role properly. This mucus provides an ideal environment for bacterial growth and subsequent infection.
People with CF are at risk of bacterial chest infections. About half of people with CF have repeated chest infections and pneumonia. If they are not treated early and properly, these are very difficult to treat. Symptoms include persistent coughing, excess production of sputum (saliva and mucus), wheezing, and shortness of breath with ordinary activities.
If people with CF do not have proper treatment, they will continue to have oily bowel movements, abdominal pain, and problems putting on weight. Constipation is also a frequent symptom. Occasionally the gut becomes completely blocked, resulting in extreme stomach pain.
In each cell in our bodies we have 22 pairs of chromosomes and one pair of sex chromosomes. These contain the genes that help to determine how cells grow and function.
The abnormal gene that causes CF is found on chromosome number 7. About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. These people are called “carriers” of the CF gene. They have no symptoms of CF – this happens only when there are CF mutations on both number 7 chromosomes (see diagram). When both parents are carriers, there is a one in four chance of having a child with CF, a one in two chance of having a child who is a carrier and a one in four chance of having an unaffected child.
There are several different types of genetic mutation which are associated with different degrees of severity of the disease.
Although there is currently no cure for CF, there is a lot of research under way to try to find a cure for CF lung disease through gene therapy.
Children born with CF do not have a normal life expectancy, though it is improving all the time. The average survival is now more than 30 years, but with the best treatment, children today with CF have a greater than 80% chance of living into their late forties.
If someone has a family history of CF, they can be tested to see if they carry the CF gene before they have a family. If a couple are both carriers or if they already have a child with CF, tests can be done early in pregnancy to see if the fetus is affected. This is called chorionic villus sampling and involves taking a biopsy (a sample of tissue) from the placenta. However, there is a small risk a miscarriage with this test. Also, if the biopsy produces a positive result for CF, the parents then face a difficult decision of whether or not to continue with the pregnancy.
Routine newborn (neonatal) screening for CF has recently received government approval in some countries. It is done using the same blood sample that is already taken from the baby six days after birth to test for two other conditions, low thyroid function and phenylketonuria.
Causes of idiopathic or primary clubbing include the following:
- Pachydermoperiostosis
- Familial clubbing
- Hypertrophic osteoarthropathy
Causes of secondary clubbing include the following:
- Pulmonary disease – Lung cancer, cystic fibrosis, interstitial lung disease, idiopathic pulmonary fibrosis, sarcoidosis, lipoid pneumonia, empyema, pleural mesothelioma, pulmonary artery sarcoma, cryptogenic fibrosing alveolitis, and pulmonary metastases
- Cardiac disease – Cyanotic congenital heart disease, other causes of right-to-left shunting, and bacterial endocarditis
- Gastrointestinal disease – Ulcerative colitis, Crohn disease, primary biliary cirrhosis, cirrhosis of the liver, leiomyoma of the esophagus, achalasia, and peptic ulceration of the esophagus
- Skin disease – Pachydermoperiostosis, Bureau-Barrière-Thomas syndrome, Fischer syndrome, palmoplantar keratoderma, and Volavsek syndrome
- Malignancies – Thyroid cancer, thymus cancer, Hodgkin disease, and disseminated chronic myeloid leukemia
- Miscellaneous conditions – Acromegaly, thyroid acropachy, and pregnancy
People with CF need daily chest physiotherapy, which involves vigorous massage to help loosen the sticky mucus. Parents of a child with CF are taught by hospital staff how to do this. Older children and adults with CF can be taught to do this for themselves.
People with CF also need to have any chest infection treated quickly with antibiotics. The usual childhood vaccinations, such as MMR (measles, mumps and rubella) and DTP (diptheria, tetanus and whooping cough) are important for people with CF, and they should also be vaccinated against flu and pneumococcus to help prevent chest infections.
With each meal or snack, most people with CF need to take capsules that supply the missing pancreatic enzymes and allow proper digestion.
There is a range of other possible treatments, according to each person’s condition. These may include:
- daily oral or inhaled antibiotics to counter lung infection
- inhaled anti-asthma therapy, corticosteroid tablets
- dietary vitamin supplements, especially A and D
- inhalation of a medication called pulmozyme to make the sputum less sticky
- medicines to relieve constipation or to improve the activity of the enzyme supplements
- insulin for CF-related diabetes
- medication for CF-associated liver disease
- oxygen to help with breathing
- in severe cases, a lung or heart and lung transplant operation
- help to overcome fertility problems
- counseling to help cope with the psychological aspects.
Signs, symptoms & indicators of Cystic Fibrosis
Offensive stool
(Possibly) enlarged spleen
Enlarged liver
Conditions that suggest Cystic Fibrosis
Steatorrhea / Fat Malabsorption
Children with cystic fibrosis have mucous plugs that block the pancreatic ducts. The absence or significant decrease of the pancreatic enzymes, amylase, lipase, trypsin, and chymotrypsin limits fat protein and carbohydrate digestion, resulting in steatorrhea due to fat malabsorption.
Cystic fibrosis
Nasal Polyps
About a quarter of people with cystic fibrosis also have nasal polyps.
Male Infertility (Low Sperm Count)
Infertility in men with cystic fibrosis occurs because the tube that carries sperm, the vas deferens, may have failed to form.
Female Infertility
Fertility problems in women with CF may be due to thicker mucus making fertilization difficult.
Risk factors for Cystic Fibrosis
Caucasian ethnicity
Cystic Fibrosis is the most common genetic disease in Caucasians.
Some/possible clubbing of digits or clubbing of toes and fingers
Counter Indicators
Absence of clubbing
Cystic Fibrosis can lead to
Steatorrhea / Fat Malabsorption
Children with cystic fibrosis have mucous plugs that block the pancreatic ducts. The absence or significant decrease of the pancreatic enzymes, amylase, lipase, trypsin, and chymotrypsin limits fat protein and carbohydrate digestion, resulting in steatorrhea due to fat malabsorption.
Nasal Polyps
About a quarter of people with cystic fibrosis also have nasal polyps.
Recommendations for Cystic Fibrosis
Bile Salts
Cystic fibrosis is associated with poor lipase secretion and, as a result, poor fat digestion. Pancreatic enzymes and bile salts may help.
Microdose DNA
Allan Lieberman, M.D. has reported the following:
“We went out and found two or three sources of DNA and we tried it. I was fortunate enough to have twins, in their mid-twenties who had cystic fibrosis that volunteered to try these DNA drops sublingually and … it really worked. It had incredible expectorant action, the mucus just kept coming up so incredibly thin that we had to learn very quickly to be careful that we don’t drown these patients. They improved their pulmonary function. They gained weight for the first time in years, so much so that they had to go out and buy new clothes to fit their new bodies, and they did not have to be hospitalized for the first time in years because of their disease.
So based upon this initial study, we went out and looked for other cystic fibrosis patients. Over time, we accumulated enough cases for a pilot study to see that what we were doing was really working.” [Natural Microdose DNA AAEM Presentation, October 2004, Hilton Head, South Carolina]
Turmeric Extract, Curcumin
The death rate from cystic fibrosis was reduced in a study with mice. Researchers are planning to determine the appropriate dose of curcumin and find out specific side effects during the initial stages of future planned patient study. [USA Today April 22, 2004]
Digestive Enzymes / (Trial)
Plant based enzymes may be more helpful than animal based enzymes. There are some preparations that have an intentionally higher lipase content which may be preferable.
Vitamin A
One of the fat soluble vitamins, along with D and E, which may not be absorbed properly in CF. There are water soluble preparations of these available.
Vitamin E
Cystic fibrosis is associated with defective absorption of vitamin E because of a lack of lipase and poor formation of chylomicrons (small fat clusters).
Key
| Weak or unproven link |
| Strong or generally accepted link |
| Proven definite or direct link |
| Strongly counter-indicative |
| May do some good |
| Likely to help |
| Highly recommended |
Glossary
Cystic Fibrosis
(CF) An incurable genetic disease involving a sticky buildup of mucus in the lungs (which makes breathing difficult and leads to infections), as well as pancreatic insufficiency (which leads to digestive problems). Symptoms include chronic cough producing thick mucus, excessive appetite combined with weight loss, intestinal disorders, salty sweat/skin and pneumonia. Lung-related problems are the most frequent cause of death. CF is a recessive disease, occurring only when a person inherits two mutated copies of the CF gene - one from each parent. Individuals with CF generally have a life expectancy of about 30 years.
Gastrointestinal
Pertaining to the stomach, small and large intestines, colon, rectum, liver, pancreas, and gallbladder.
Enzymes
Specific protein catalysts produced by the cells that are crucial in chemical reactions and in building up or synthesizing most compounds in the body. Each enzyme performs a specific function without itself being consumed. For example, the digestive enzyme amylase acts on carbohydrates in foods to break them down.
Stomach
A hollow, muscular, J-shaped pouch located in the upper part of the abdomen to the left of the midline. The upper end (fundus) is large and dome-shaped; the area just below the fundus is called the body of the stomach. The fundus and the body are often referred to as the cardiac portion of the stomach. The lower (pyloric) portion curves downward and to the right and includes the antrum and the pylorus. The function of the stomach is to begin digestion by physically breaking down food received from the esophagus. The tissues of the stomach wall are composed of three types of muscle fibers: circular, longitudinal and oblique. These fibers create structural elasticity and contractibility, both of which are needed for digestion. The stomach mucosa contains cells which secrete hydrochloric acid and this in turn activates the other gastric enzymes pepsin and rennin. To protect itself from being destroyed by its own enzymes, the stomach’s mucous lining must constantly regenerate itself.
Bacteria
Microscopic germs. Some bacteria are "harmful" and can cause disease, while other "friendly" bacteria protect the body from harmful invading organisms.
Constipation
Difficult, incomplete, or infrequent evacuation of dry, hardened feces from the bowels.
Biopsy
Excision of tissue from a living being for diagnosis.
Neonatal
A term that refers to newborn infants, particularly during the first four weeks of life.
Thyroid
Thyroid Gland: An organ with many veins. It is at the front of the neck. It is essential to normal body growth in infancy and childhood. It releases thyroid hormones - iodine-containing compounds that increase the rate of metabolism, affect body temperature, regulate protein, fat, and carbohydrate catabolism in all cells. They keep up growth hormone release, skeletal maturation, and heart rate, force, and output. They promote central nervous system growth, stimulate the making of many enzymes, and are necessary for muscle tone and vigor.
Phenylketonuria
An inherited disease caused by a lack of an enzyme necessary for converting phenylalanine into a form the body can use.
Idiopathic
Arising spontaneously or from an obscure or unknown cause.
Clubbing
A broadening and thickening of the fingers or toes (distal phalanx) with increased lengthwise curvature and curvature of the tip of the nail, with flattening of the angle between the cuticle and nail. Clubbing is associated with a wide number of diseases, although it is most often noted in diseases of the heart and lungs that cause decreased blood oxygen and skin blueness (cyanosis) or lung cancer. Clubbing can also be associated with other diseases such as diseases of the liver and the gastrointestinal tract. It may also occur in families without signifying an underlying disease.
Pulmonary
Pertaining to the lungs.
Cancer
Refers to the various types of malignant neoplasms that contain cells growing out of control and invading adjacent tissues, which may metastasize to distant tissues.
Pulmonary Fibrosis
Pulmonary Fibrosis (PF) is a disease of inflammation that results in scarring, or fibrosis, of the lungs. In time, this fibrosis can build up to the point where the lungs are unable to provide oxygen to the tissues of the body.
Empyema
Pus located in a body cavity.
Cardiac
Pertaining to the heart, also, pertaining to the stomach area adjacent to the esophagus.
Ulcerative Colitis
(Colitis ulcerosa): Ulceration of the colon and rectum, usually long-term and characterized by rectal bleeding or blood in the stool, frequent urgent diarrhea/bowel movements each day, abdominal pain.
Cirrhosis
A long-term disease in which the liver becomes covered with fiber-like tissue. This causes the liver tissue to break down and become filled with fat. All functions of the liver then decrease, including the production of glucose, processing drugs and alcohol, and vitamin absorption. Stomach and bowel function, and the making of hormones are also affected.
Esophagus
Commonly called the "food pipe", it is a narrow muscular tube, about nine and a half inches long, that begins below the tongue and ends at the stomach. It consists of an outer layer of fibrous tissue, a middle layer containing smoother muscle, and an inner membrane, which contains numerous tiny glands. It has muscular sphincters at both its upper and lower ends. The upper sphincter relaxes to allow passage of swallowed food that is then propelled down the esophagus into the stomach by the wave-like peristaltic contractions of the esophageal muscles. There is no protective mucosal layer, so problems can arise when digestive acids reflux into the esophagus from the stomach.
Ulcer
Lesion on the skin or mucous membrane.
Chronic
Usually Chronic illness: Illness extending over a long period of time.
Leukemia
Cancer of the lymph glands and bone marrow resulting in overproduction of white blood cells (related to Hodgkin's disease).
Corticosteroid
Steroid hormone produced by the adrenal cortex.
Insulin
A hormone secreted by the pancreas in response to elevated blood glucose levels. Insulin stimulates the liver, muscles, and fat cells to remove glucose from the blood for use or storage.
Diabetes Mellitus
A disease with increased blood glucose levels due to lack or ineffectiveness of insulin. Diabetes is found in two forms; insulin-dependent diabetes (juvenile-onset) and non-insulin-dependent (adult-onset). Symptoms include increased thirst; increased urination; weight loss in spite of increased appetite; fatigue; nausea; vomiting; frequent infections including bladder, vaginal, and skin; blurred vision; impotence in men; bad breath; cessation of menses; diminished skin fullness. Other symptoms include bleeding gums; ear noise/buzzing; diarrhea; depression; confusion.
Lipase
An enzyme secreted by the pancreas to assist in fat breakdown.
Chymotrypsin
An enzyme secreted by the pancreas into the small intestine to assist in protein breakdown.
Protein
Compounds composed of hydrogen, oxygen, and nitrogen present in the body and in foods that form complex combinations of amino acids. Protein is essential for life and is used for growth and repair. Foods that supply the body with protein include animal products, grains, legumes, and vegetables. Proteins from animal sources contain the essential amino acids. Proteins are changed to amino acids in the body.
Carbohydrates
The sugars and starches in food. Sugars are called simple carbohydrates and found in such foods as fruit and table sugar. Complex carbohydrates are composed of large numbers of sugar molecules joined together, and are found in grains, legumes, and vegetables like potatoes, squash, and corn.
Polyp
A usually nonmalignant growth or tumor protruding from the mucous lining of an organ such as the nose, bladder or intestine, often causing obstruction.