Cystic fibrosis

Insights on cystic fibrosis

Cystic fibrosis: what is it and how is it manifested

The cystic fibrosis (abbreviated as CF and also called fibrocystic disease) ,is a rare serious disease, and the most widespread among these: in Italy it affects 1 person every 2500-3000, with about 200 new cases a year. It is an autosomal recessive multi-organ pathology, which means that it can involve more organs:

  • the respiratory system (from the first airways to the lung tissue),
  • the pancreas, in the production of digestive enzymes,
  • the liver,
  • the intestine,
  • the reproductive system, especially the vas deferens in males.
fibrosi cistica
Pulmonary cystic fibrosis

It statistically affects in the same way males and females, but has a different course in each subject. La The main cause of mortality in patients is however the persistence of infections and inflammations: the obstructions of the respiratory tree, not favoring the mucus flow, making the patient sensitive to infections, especially to Pseudomonas aeruginosa and Staphylococcus aureus. . The constant presence of phlegm and mucus in the lungs reduces respiratory function and provokes progressive deterioration of the respiratory tissue.

Such condition, defined as mucoviscidosis, obstructs the main ducts of the whole body and contributes in general to the proliferation of bacteria, impacting negatively the functionality of the organs.

fibrosi cistica polmonare
Pancreatic cystic fibrosis

In a particular way, the pancreas is hit by the exocrine glands and undergoes an obstruction of the ducts that convey the pancreatic enzymes to the gastrointestinal tract, affecting the digestive functions. 

At the moment there is no definitive cure, but there are many treatments.
Despite everything, thanks to the progress of research and cures, many steps ahead have been made in recent decades. Until just only ten years ago, the mortality and survival statistics marked the average maximal age of about 22, and the sick could not therefore reach adulthood; children who are born with this pathology today have a life expectancy of over 40 years. In fact today 50% of people with CF are over 18, 20% are over 36, and many can live with a reasonable state of health. 

In Italy, thanks to law 548/1993, each region has at least one  specialized center  for treating the disease.

fibrosi cistica pancreas
Symptoms of cystic fibrosis

Disorders affect the exocrine glands and many organs with a variety of symptoms, mainly affecting the gastrointestinal and respiratory tracts. The prognosis and course of the disease however, vary in each patient. 

The most common symptoms are:

  • persistent cough and difficult breathing
  • excessive production of mucus and consequent bronchial and pulmonary infections
  • progressive loss of lung function,
  • chronic diarrhea, oily and foul-smelling stools,
  • in some cases intestinal obstruction at birth (meconium ileus),
  • intestinal obstructions that disturb digestion and assimilation of the nutrients with consequent low growth in weight and height,
  • salty sweat, caused from the mutation that the disease causes in the transport of liquids in the body.
fibrosi cistica sintomi
Causes and transmission

Cystic fibrosis is caused by a mutation of the CF gene (chromosome 7) and of the related alteration of the protein called CFRT (Cystic Fibrosis Transmembrane conductance Regulator), responsible for transporting chlorine from the inside to the outside of the body's cells and which should favor the relative transport of water.

You can be a healthy carrier of CF without knowing it, in fact 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 a healthy carrier every 25 people.

As a pathology with an autosomal recessive transmission mechanism, it is transmitted and manifested when both parents are carriers and the child inherits from each the mutation. The percentage of chance is 25% with each pregnancy, so statistically two out of four children will inherit the recessive gene and be healthy carriers, one will be healthy and one sick.

How to diagnose the cystic fibrosis

The diagnosis is based on the test called sweat test, which measures the salts concentration such as sodium and chlorine in the sweat. The values are positive for the CF when they exceed 60mEq / l. On children it can be performed starting from six weeks of life, when the normal values of salts in sweat are less than 40mEq / l.

In fact, being a hereditary genetic disease, therefore congenital, it appears before birth. Thanks to amniocentesis (or prenatal screening) can be performed genetic tests on the DNA of amniocytes, or fetal cells present in the amniotic fluid, to find out if the fetus has the mutation. This operation, however, is carried out only in the case of a real possibility of illness, as the procedure is very invasive and can lead to serious collateral risks to the fetus and in any case does not record a certain 100% result.

Cystic fibrosis: cures

Thanks to the developments of scientific research, today exist forms of personalized therapies aimed at treating some genetic defects.

There are nutritional therapies that interfere in the therapy of symptoms, especially in the gastrointestinal system. It is recommended a high-calorie diet, rich in fat, associated with administration of the pancreatic enzymes at each meal to replace those that the pancreas does not produce, and supplemented with liposoluble vitamins (A, D, E, K) and supplementation with salt, especially in children.

Among the new nutritional therapies we report EFFECI OIL (pure coconut MCT), indicated in cases of malnutrition and EFFECI VITADEK (liposoluble vitamins A, D, E and K in exclusive jellysoft), suitable for cases of pancreatic insufficiency and reduced capacity to absorb fat.

Products for cystic fibrosis

  • EFFECI OIL® FLAVORED

    78,50

    Food intended for special medical purposes (FSMP) indicated for the dietary treatment of patients with lipid malabsorption as in Cystic Fibrosis

  • EFFECI® VITADEK 30 JELLY

    34,90

    Effeci Vitadek® 30 Jelly  food intended for special medical purposes (ISMP) indicated for the dietary treatment of patients with cystic fibrosis, especially in patients with pancreatic insufficiency.
    Effeci Vitadek is an I.S.M.P. reimbursed by the NHS

  • EFFECI® VITADEK 60 JELLY

    64,90

    Effeci Vitadek® 60 Jelly food intended for special medical purposes (ISMP) indicated for the dietary treatment of patients with cystic fibrosis, especially in patients with pancreatic insufficiency.
    Effeci Vitadek is an I.S.M.P reimbursed by the NHS