Home Ι E-health chronicles Ι Cystic fibrosis

Cystic fibrosis

January 23, 2024 — published by Pyramidale Communication

Key numbers on cystic fibrosis

In France, approximately 200 children are born with cystic fibrosis each year. In 2021, more than 7,500 patients were recorded, over a third (38.3%) of whom were children.¹
The average age of patients is around 25. The average life expectancy of patients is now between 40 and 50 years, compared with only five years in the 1960s. Children born in recent years are expected to benefit from further improvements in life expectancy due to enhanced care.²
There are 47 Cystic Fibrosis Resource and Competence Centers (CRCMs) in France, including 2 reference centers in Nantes and Lyon.³

What is cystic fibrosis?

Cystic fibrosis is an autosomal recessive hereditary disease causing abnormally viscous sweat and mucus secretions. The disease is caused by mutations in the CFTR gene, located on the long arm of chromosome 7 (7q31), which encodes the CFTR protein responsible for chloride ion transport across cell membranes. Several mutations have been identified in the CFTR gene. Numerous mutations of the CFTR gene have been identified, with the F508del mutation being the most common, present in 83% of patients.^1,5

Diagnostic criteria and management

Today, neonatal screening in France covers 13 diseases, and is performed on the third day of life. In vast majority of cases, this procedure allows for diagnosis of the disease at birth, as it has been implemented in all French maternity wards since 2002.

A diagnosis may also be suggested at birth if symptoms such as ileus, delayed passage of meconium, persistent jaundice are present, or if there is a family history of the disease. In infants, children, and adults, cystic fibrosis is most often investigated following pulmonary or digestive complications.⁵

Lungs complications: thickened mucus obstructs the bronchi, causing chronic bronchopathies.^2,5 In the most severe cases, respiratory failure may occur.² Bronchial congestion also promotes frequent bacterial infections.²
Digestive complications: the hyperviscosity of pancreatic secretions blocks enzymes within the pancreas, leading to several consequences: pancreatic tissue is damaged, causing impaired insulin secretion and potentially diabetes. Additionally, pancreatic secretions cannot reach the intestine, leading to digestive complications such as chronic diarrhea, rectal prolapse, hepatobiliary involvement, dehydration, malabsorption of fats, nutrients, and vitamins, and impaired bone mineral density.^2,5

A biological diagnosis is established based on a sweat test (ST) showing a sweat chloride (Cl⁻) concentration of at least 60 mmol/L and/or CFTR gene testing revealing two pathogenic variants of the CFTR gene associated with cystic fibrosis, one inherited from each parent. In certain cases, genetic analysis may reveal only one or no pathogenic variants, and the ST may be intermediate (30–59 mmol/L) or negative (<30 mmol/L). In such cases, subclinical signs and epithelial functional tests are further explored.^5,6

Once diagnosed, people with cystic fibrosis are monitored at CRCM (centres de ressources et de compétence de la Mucoviscidose), either through scheduled hospitalization or outpatient consultation. Medical care is coordinated by the MUCO-CFTR, a multidisciplinary Rare Diseases Health Network involving pediatricians, pulmonologists, gastroenterologists, internists, physical therapists, dietitians, and more.^2,5

Historically, treatment of cystic fibrosis has been mainly symptomatic. It focuses on respiratory management (physiotherapy, inhaled treatments, antibiotics, oxygen therapy) and digestive and nutritional management (pancreatic enzyme supplements and dietary adjustments). Lung transplantation remains the last-resort treatment in cases of severe respiratory failure.⁵

In recent years, the development of CFTR protein modulators has transformed therapeutic management.^2,6

Therapeutic education is also an integral part of multidisciplinary care.⁵

Would you like to learn more about cystic fibrosis?

Click here to access the season dedicated to sports and cystic fibrosis on our RARE medical Podcast – RARE à l’écoute.

Listen to the interview with Dr. Guillaume Barucq, as well as patient testimonials.

Planning a project?

Pyramidale Communication, a medical communications agency, can support you in your medical communications and digital health marketing projects. We are pioneers in multi-channel health communications.

Please contact us with any questions. We are here to help!

Our teams will support you every step of the project.

CRCM: centres de ressources et de compétence de la Mucoviscidose.

References:

Registre français de la mucoviscidose. 2021
Inserm. Mucoviscidose : nouvelles thérapeutiques ciblant le gène CFTR. Dossier du CNHIM. 2021;XLII(4).
Filière MUCO-CFTR. Site internet : https://muco-cftr.fr/index.php/fr/
Orphanet. Mucoviscidose. Disponible sur le lien : https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=586
PNDS Mucoviscidose. Centre de Reference Mucoviscidose de Lyon. Juillet 2017.
PNDS. Evaluation diagnostique et prise en charge des affections liées ou associées à CFTR. CRMR Mucoviscidose. Novembre 2021.

SHARE THIS ARTICLE:

Contact us today to discuss how we can help you stand out in medical communications.