symptoms, treatment, life expectancy

Cystic fibrosis is an inherited genetic disease that affects infants, children and adults. It is particularly responsible for respiratory symptoms and reduces life expectancy. How is the diagnosis made? What treatments? What are the transmission risks? Answers with Dr. Natascha Remus.

In France1 in 4,500 newborns, is about 200 children, is born every year with cystic fibrosis, a genetic disease that mainly affects the lungs, digestive and reproductive systems. About 80% of cystic fibrosis is diagnosed in children before the age of one year. Life expectation of affected patients is currently 47 years oldS. Cystic fibrosis evolves regardless of whether you are a child, a child or an adult. What is this Cystic fibrosis ? What are the symptoms ? The risks of transmission ? What are the treatments ? As the diagnose ?

Definition: what is cystic fibrosis?

Cystic fibrosis (or cystic fibrosis) is an inherited genetic disease. “It affects the cellular functioning of almost all organs such as the lungs, the ENT system, the digestive system, the pancreas, the liver and bile ducts, as well as the reproductive organs“, explains Dr. Natascha Remus, head of the Center of Reference and Competence for Cystic Fibrosis of the CHI de Créteil.

What is the situation in France?

In France, 1 in 4,500 newborns, or about 200 children, are born every year with cystic fibrosis. The figures vary greatly from one region to another, a situation linked to local genetic bases. About 80% of cystic fibrosis is diagnosed in infants before the age of one year, and 10% is diagnosed later, in young children, adolescents, and adults. “Today, this disease is better managed : we do more prevention so that patients live better“, Specifies the healthcare professional.

Is cystic fibrosis transmitted?

The cause of cystic fibrosis is genetic. In fact, our genetic heritage, present in our chromosomes, determines the characteristics and functioning of our organism. However, patients with this disease have a poorly coded gene: it is CFTR, located on chromosome 7. This mutation leads to a malfunction of a protein that carries salt and chlorine in the body. This dysfunction alters the production of secretions: “cystic fibrosis patients lose much more salt than normal. As a result, there is a lack in the organs, and it is this lack of salt that will make the mucus too dry, too viscous, throughout the body and alter the functioning of the organs (bronchi, colon, uterus, etc.) “, details the professional. This causes respiratory damage (infections) and digestive disorders (due to damage to the pancreas) etc. other organs are affected depending on the mutation. About two million people carry the cystic fibrosis gene in France.

“Patients with cystic fibrosis lose much more salt than normal: this deficit alters the functioning of the organs”

What are the early symptoms of cystic fibrosis?

There are several forms of cystic fibrosis that evolve with age “explains Natasha Remus. In young childrenthe symptoms are often digestive. They have food malabsorption, do not digest properly, eat a lot, but are very bloated. Once treated they are quite comfortable ! ”, Emphasizes the specialist. Growing up, thethe child has a lot of secretions in the nose and ears. You have to do enemas, because if the baby is less able to hear, “this can cause language delay“he says. Like other children, they can catch a cold or bronchitis, but”since in them the secretions are more vivid, the bronchitis is often superinfected from bacteria, with wet cough, exertional discomfort, loss of appetite … “, explains. But normally,we do not recognize a child with cystic fibrosis from other children. They have a normal life!“. This first phase lasts until adolescence.”Today we have fewer and fewer teenagers who have severe infections and need intravenous treatment, it is becoming less and less frequent“, specifies the professional. However, once adult, cystic fibrosis affects almost all organs. Depending on its shape, it causes various symptoms:

► One hyperviscosity or thickening of the secretions emitted by the body.

ENT disorders, with discharge in the nose or ears which may persist and in some cases lead to chronic sinusitis.

► In the lungs, the appearance of a persistent cough, susceptibility to bronchitis, then in an advanced stage, chronic respiratory failure.

► At the level of the pancreas, “a pancreatic insufficiencyand which causes digestive difficulties, with abundant diarrhea that we now know better to treat to avoid growth retardation“, Natascha Remus insists.

► One cirrhosis hepatitis for about 40% of patients, “but the liver, regenerating itself well, can live normally“Says the doctor.

► Patients with cystic fibrosis lose too much salt in sweat, so they have to drink more and eat more salt (this also applies to the little ones).

In adultsMan is sterileand his wife subfertile (poorly fertile) due to secretions in the uterus and fallopian tubes. As patients get older, “there are joint and bone pains that are difficult to treat“explains the professional. Other organs are affected erratically and generally in advanced stages, particularly the heart. The following symptoms are emergency sign :

  • dehydration (increased in periods of high heat)
  • severe abdominal pain
  • stool stop
  • presence of blood in the sputum
  • vomit blood
  • rapid worsening of respiratory function.

What are the diseases associated with cystic fibrosis?

Cystic fibrosis is associated with various diseases that affect different organs. Manifestations may vary according to age. In most cases there are respiratory system pathologies such as :

  • chronic obstructive pulmonary disease,
  • bronchiectasis (EFR, RP, CT),
  • chronic lung infections,
  • nasal sinus polyposis,
  • chronic sinusitis (CT).

As seen above, some pathologies of the digestive system they are also associated with cystic fibrosis such as:

  • external pancreatic insufficiency (affecting the vast majority of patients),
  • intestinal blockage,
  • cirrhosis.

Association with diabetes it is very common due to pancreatic insufficiency. Children with cystic fibrosis also have more difficulty breathing during exercise and are more easily asthmatic because their bronchi are more sensitive than a normal child.

At birth there is a screening from 3 days of life. We do a first test by measuring a protein produced by the pancreas, immunoreactive trypsinwhy the pancreas doesn’t work well if there is cystic fibrosis“explains Natascha Remus. If this protein is not within the norm, parents can ask the genetic test. This is how we will find mutations. Then, if there is a need to confirm cystic fibrosis, there is the sweat test: “this is the key diagnostic test: it consists of collecting sweat to analyze it and measure the levels of chloride (Cl-) and sodium ions“. A concentration greater than 60 millimoles per liter is considered positive. However, this test is only possible on a child weighing at least 4 kilos. It is also possible to search for the genetic mutation in question.

“There is no cure for cystic fibrosis.”

Can cystic fibrosis be treated?

There is not yet curative treatment for the treatment of cystic fibrosis. However, many treatments are preventative. Pancreatic enzymes, for example, are used to replace the pancreas and are very effective today for living almost normally.“explains the doctor. Treatment of cystic fibrosis requires a multidisciplinary assistance, which brings together doctors of different specialties: a physiotherapist, a follow-up psychologist and a dietician. The patient will undergo rehabilitation through respiratory physiotherapy, a diet rich in calories and supplemented with enzymes (lipase in particular, deficient) and vitamins. Obviously he must have impeccable hygiene. In case of frequent lung infections, antibiotics are given after analysis of the germs contained in the sputum. In case of advanced respiratory failure, a lung transplant, sometimes associated with that of the heart, is considered. There are also new treatments today, but they don’t work for all patients. Natasha Remus explains: “we have a treatment, Calideco, which improves the function of the CFTR (salt-carrying) protein. But it doesn’t work in all patients: it depends on the mutation of the channel that carries chlorine. This treatment affects about 5% of our patients, those with class III of the CFTR gene. We see excellent results in the sweat test, which has improved, see normalized“.

► Two pharmaceutical specialties KAFTRIO® and SYMKEVI® in association with KALYDECO® by the VERTEX laboratory were reimbursed from June 28, 2021 to 100% health insurancereads a statement from the Ministry of Health.

► There is also a new treatment, called Orkambi, for people with the most common CF mutation, Delta F508. “In them, the protein channel is not very well formed, explains the professional. Often, when it is, it is destroyed by our cells, because there is a mechanism that controls the proteins that are not in the right shape and destroys them. But with the molecules of this new treatment, they can prevent its destruction and activate the channel once in the right place so that it works well.“, he rejoices. This new treatment slightly improves the sweat test, but above all reduces the number of bronchitis requiring antibiotics by about 30-40%.

“Life expectancy is currently 47 years”

Which transplant for cystic fibrosis?

Where an adult with cystic fibrosis has a lot of bronchitis, he has destroyed his lungsmay suffer from respiratory failure. In this case, will need a transplant“, indicates the specialist. And to add”currently it still affects young adults between the ages of 20 and 30, but with this new drug the age will shift later and later“.

Do you die of cystic fibrosis?

About 5000 patients live with cystic fibrosis in France. “Life expectancy is currently 47 yearsbut it is expected to rise again soon thanks to new treatments currently being researched“says the professional. Indeed, new and much more effective drugs are currently being studied. The research has already been published in journals in the United States and is expected to be available in December 2019. Today,”if there are patients with very severe cases, the majority live well“, insists the professional.”It is believed that patients cannot make life plans, or have a family…. But today this is no longer the case!“.

Thanks to Dr. Natascha Remus, head of the Center of Reference and Competence for Cystic Fibrosis of CHI de Créteil.

Sources:

– Cystic fibrosis, encouraging therapeutic avenues. Insertion, February 8, 2021

Read more on cystic fibrosisexchange with patients, relatives of patients, research support: contact the association Defeat cystic fibrosis and theGregorio Lemarchal Association.

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