Cystic fibrosis (abbreviated as CF and also called as Fibrocystic Disease) is a serious rare disease,, among the most widespread: in Italy, it strikes 1 every 2500-3000 people, with about 200 cases per year.
It is a multi-organ recessive autosomical disease, meaning that it can involve more than one organ:
- the respiratory system (from the first airways to lung tissue),
- the pancreas in the production of digestive enzymes,
- the liver,
- the bowel
- the reproductive system, and in males the deferent ducts above all else.
Cystic fibrosis – lungs
Statistically, it strikes males and females in the same way, yet its course differs in each individual. The main cause of mortality in patients, however,
is due to prolonged infections and inflammations: obstructions in the respiratory tree, which do not favor mucus discharge,
make the patient sensitive to infections, especially to Pseudomonas aeruginosa and Staphylococcus aureus. The constant presence of catarrh and mucus in the lungs reduces respiratory function and causes progressive deterioration of respiratory tissue.
This condition, defined as mucoviscidosis, obstructs the main ducts of the whole body and generally contributes to the proliferation of bacteria, by having a negative impact on the organs' function.
Cystic fibrosis - pancreas
The pancreas is especially affected in the exocrine glands and suffers from obstruction of the ducts through which pancreatic enzymes travel to the gastrointestinal system, affecting digestive functions.
Despite all this, thanks to advances in research and treatment, much progress has been made in recent decades. Until just ten years ago, mortality and survival statistics were on average at about 22 years of age, so that those suffering from it would not reach adulthood; children born with this disease today have a life expectancy of more than 40 years. In fact, 50% of people with CF are now over 18 years old, 20% are over 36, and many are able to live in a reasonable state of health.
In Italy, thanks to Law 548/1993, each Region has at least one specialized Center for this disease.
Cystic fibrosis – symptoms
The disorders affect the exocrine glands and many organs with a variety of symptoms, mainly affecting the gastrointestinal and respiratory tract. Prognosis and how the disease develops, however, vary from patient to patient.
The most recurrent symptoms are:
- persistent cough and difficult breathing,
- excessive mucus production and consequent bronchial and lung infections,
- progressive loss of lung function,
- chronic diarrhea, oily and malodorous stools,
- in some cases, intestinal obstruction at birth (Meconium Ileus),
- intestinal obstructions that disrupt digestion and assimilation of nutrients thus resulting in low growth in weight and height,
- Salty sweat, due to the mutation that the disorder causes in transporting liquids in the body.
Causes and transmission
Cystic fibrosis is caused by a mutation in the CF gene (Chromosome 7) and by the alteration of the related protein called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), which is responsible for transporting chloride across the cells and should facilitate its water transport.
People can be healthy carrier of CF without knowing it. Indeed, if only one of the two alleles of the CFTR gene is mutated and recessive, the person will not develop the disease. In Italy, there is one healthy carrier in 25 people.
As a recessive autosomal transmission mechanism disorder, it is transmitted and manifests itself when both parents are carriers and the child inherits mutation from each one. The rate of possibility is 25% at each pregnancy. Statistically, then, out of four children two will inherit the recessive gene and will be healthy carriers; one will be healthy and one sick.
How is Cystic fibrosis diagnosed?
The diagnosis is based on the Sweat test, which measures the concentration of salts such as sodium and chloride in sweat. The values are positive for FC when they exceed 60mEq/liter. On children, the test may be carried out from their sixth week of life when normal perspiration salts in sweat are less than 40mEq/l.
Another method to identify and diagnose the disease in our days involves control procedures, amniocentesis during pregnancy or neonatal screening immediately after childbirth. Inasmuch as CF is an inherited genetic disease, and thus congenital, it appears even before birth. Through amniocentesis (or prenatal screening), genetic tests can be carried out on the DNA of amniocytes, i. e. the fetal cells present in the amniotic fluid, to find out whether the fetus presents the mutation. This procedure, however, is only carried out in cases when the possibility of disease is real. This much because this is a very invasive procedure, it can involve serious side risks to the fetus and in any case its accuracy rate is not 100%.
Cystic fibrosis: treatments
Thanks to recent developments in scientific research, some forms of personalized therapies are available today whose aim is treating certain genetic defects.
There are nutritional therapies for the gastrointestinal system. Experts recommend a hyper-caloric diet, rich in fat, associated with the administration of pancreatic enzymes at each meal in place of those that the pancreas does not produce, and supplemented by both fat-soluble vitamins (A, D, E, K) and salt supplementation, in children in particular.
New nutritional therapies include EFFECI OIL (pure coconut MCT oil), suggested for cases involving malnutrition and EFFECI VITADEK (fat-soluble vitamins A, D, E and K in exclusive jelly soft chews), suitable for cases involving pancreatic insufficiency and reduced ability to absorb fats.