Pathology and Diseases

65 Roses: A Closer Look at Cystic Fibrosis and Its Effects

Explore the impact of cystic fibrosis on various body systems, its genetic origins, and the meaning behind the term "65 Roses."

Cystic fibrosis (CF) is a genetic disorder that primarily affects the respiratory and digestive systems, leading to thickened mucus that causes severe complications. It is a lifelong condition requiring ongoing medical care. Advances in treatment have improved outcomes, but CF remains a serious disease without a universal cure.

Why Is It Called 65 Roses

The phrase “65 Roses” became a recognized symbol for cystic fibrosis after a child mispronounced the disease’s name. In 1965, Mary G. Weiss, a Cystic Fibrosis Foundation volunteer, overheard her four-year-old son, Richard, say “65 Roses” instead of “cystic fibrosis.” His innocent mistake resonated with families affected by the disease, making the complex name more accessible, particularly for young patients.

Over time, “65 Roses” evolved into a symbol of hope and resilience. The Cystic Fibrosis Foundation adopted the term for awareness and fundraising efforts. The association with roses also serves as a metaphor—just as roses have thorns, individuals with CF face challenges but continue to show strength.

Genetic Basis

Cystic fibrosis is caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene on chromosome 7. This gene encodes a protein that regulates the movement of salt and water across epithelial membranes. Mutations disrupt this function, leading to thick, sticky mucus that affects multiple organ systems. More than 2,000 CFTR mutations exist, but not all cause CF. The most common mutation, ΔF508, accounts for nearly 70% of cases worldwide and results in a misfolded CFTR protein that is degraded before reaching the cell surface.

Cystic fibrosis follows an autosomal recessive inheritance pattern, meaning individuals must inherit two defective CFTR copies—one from each parent—to develop the disease. Carriers, who have one mutated allele, typically do not show symptoms but can pass the mutation to their children. If both parents are carriers, there is a 25% chance per pregnancy that their child will have CF. CFTR mutations are most prevalent in individuals of European descent, with a carrier frequency of about 1 in 25, though the disease affects all ethnic groups.

The severity of CF symptoms varies based on the specific CFTR mutation and genetic modifiers—other genes that influence disease progression. For example, variations in the TGF-β1 gene can worsen lung disease, while polymorphisms in the ENaC (epithelial sodium channel) gene further disrupt ion transport. Environmental factors such as pathogen exposure and healthcare access also contribute to disease variability, making CF a complex disorder influenced by multiple factors.

Respiratory Manifestations

The respiratory system is most affected by CF due to defective CFTR protein function, which disrupts airway surface liquid balance and impairs mucus clearance. Dehydrated, thick mucus accumulates in the airways, obstructing airflow and fostering bacterial colonization. Pseudomonas aeruginosa and Staphylococcus aureus are common pathogens in CF patients, leading to recurrent infections that accelerate lung damage. Chronic inflammation and repeated infections contribute to bronchiectasis, a condition where bronchi become permanently dilated, further impairing mucociliary clearance.

Symptoms include chronic cough, wheezing, and shortness of breath. Many patients produce thick sputum containing neutrophil-derived DNA, increasing mucus viscosity. Airway obstruction leads to declining pulmonary function, measured by forced expiratory volume in one second (FEV1), a key indicator of disease severity. In advanced cases, respiratory failure may require supplemental oxygen, non-invasive ventilation, or lung transplantation.

Gastrointestinal Involvement

CF affects the digestive system by impairing chloride and bicarbonate secretion in the pancreas. Thick secretions block pancreatic ducts, preventing enzyme release needed for digestion. This leads to malabsorption, nutrient deficiencies, poor weight gain, and steatorrhea—bulky, foul-smelling stools due to undigested fat.

Pancreatic insufficiency occurs in about 85% of patients, necessitating lifelong enzyme replacement therapy. Some retain partial pancreatic function, while others develop cystic fibrosis-related diabetes (CFRD). CFRD results from both insulin deficiency due to pancreatic damage and insulin resistance linked to chronic inflammation. It worsens pulmonary outcomes and increases mortality, making early detection and management critical.

Reproductive Effects

CF affects reproductive health in both males and females due to CFTR dysfunction in the reproductive tract. While medical advancements have improved reproductive options, individuals with CF often require specialized care.

In males, congenital bilateral absence of the vas deferens (CBAVD) is the leading cause of infertility, occurring in over 95% of cases. The vas deferens fails to develop due to thickened secretions obstructing the ducts, resulting in azoospermia (absence of sperm in ejaculate). However, sperm production remains intact, allowing assisted reproductive techniques such as testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) to enable biological parenthood. Genetic screening helps assess the risk of passing CF mutations to offspring.

In females, thick cervical mucus can hinder sperm motility, reducing natural conception chances. Malnutrition, chronic inflammation, and respiratory burden may also cause irregular menstrual cycles. However, many women with CF can conceive naturally or with medical assistance, such as ovulation tracking and intrauterine insemination (IUI). Pregnancy requires close monitoring, as increased physiological demands can worsen respiratory symptoms and nutritional deficiencies. Preconception counseling and multidisciplinary care help optimize maternal and fetal health.

Diagnostic Indicators

Early diagnosis is crucial for initiating treatments that improve long-term outcomes. Screening methods detect CF in infancy, while additional tests confirm cases in symptomatic individuals or those identified through genetic testing. Advances in diagnostics have refined CFTR mutation classification, enabling more precise treatments.

Newborn screening programs use immunoreactive trypsinogen (IRT) assays to identify at-risk infants. Elevated IRT levels suggest pancreatic dysfunction, prompting genetic testing for CFTR mutations. If two pathogenic variants are found, CF is diagnosed. When genetic results are inconclusive, the sweat chloride test remains the gold standard, measuring chloride concentration in sweat. Levels above 60 mmol/L strongly indicate CF, while intermediate results (30–59 mmol/L) may require further testing, such as nasal potential difference measurements or extended genetic panels.

For older patients with milder or atypical symptoms, diagnosis may be delayed, especially in cases with residual CFTR function. These individuals may present with single-organ issues, such as recurrent respiratory infections or pancreatic insufficiency, without classic multisystem involvement. Next-generation sequencing has improved detection of rare CFTR variants, allowing earlier intervention even in non-traditional cases. As precision medicine advances, personalized treatments based on genetic profiles offer new hope for CF patients, highlighting the importance of comprehensive and early diagnosis.

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