Can a 70 year old get cystic fibrosis? Understanding Late-Onset Diagnosis

Cystic fibrosis (CF) is an inherited disease, meaning it is present from birth, not something a person acquires in their senior years. However, a late diagnosis of CF, even at age 70, is possible, though rare, and often stems from a milder, atypical form of the condition that was previously misdiagnosed or overlooked for decades.

Quick Summary

Diagnosing cystic fibrosis at 70 is possible, though it is a genetic condition present since birth; the late discovery is due to milder or atypical symptoms that were previously misdiagnosed. It highlights the wide spectrum of the disease and advancements in medicine that allow people with CF to live longer, fuller lives.

Key Points

• Genetic Condition: Cystic fibrosis is an inherited genetic disease, not something that a person can acquire at age 70.

• Late-Onset Possibility: A person can be diagnosed with a milder, atypical form of cystic fibrosis later in life, sometimes even at age 70 or older, due to previously missed or misdiagnosed symptoms.

• Milder Symptoms: Late-onset CF is often characterized by milder, single-organ symptoms that were mistaken for other conditions like asthma or chronic bronchitis.

• Diagnostic Challenges: Diagnosis in older adults can be challenging due to atypical presentation and potentially borderline sweat test results. Genetic testing is crucial.

• Improving Prognosis: Thanks to modern therapies, including CFTR modulators, the prognosis for individuals with CF has vastly improved, leading to longer lifespans and better quality of life.

• Crucial Awareness: Increased awareness of atypical CF is vital for healthcare providers and patients to ensure timely and accurate diagnosis and access to effective treatments.

The Genetic Basis: Inherited, Not Acquired

Cystic fibrosis is caused by a defective gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on chromosome 7. An individual must inherit two mutated copies of this gene—one from each parent—to have cystic fibrosis. This makes it a genetic, not an environmental or age-related, disease.

Unlike many conditions that develop over a lifetime due to lifestyle or aging, the genetic blueprint for CF is set at conception. The CFTR gene mutation disrupts the function of chloride channels, leading to the production of thick, sticky mucus that clogs vital organs, particularly the lungs and pancreas.

The Spectrum of Cystic Fibrosis: Atypical vs. Classic

For decades, CF was viewed as a fatal childhood illness. Today, with improvements in treatment and screening, many people with CF live into adulthood and beyond. This expanded lifespan has revealed a broader spectrum of the disease than previously understood, including milder forms that can go undiagnosed for many years. These milder forms are often referred to as atypical CF. The severity of symptoms depends on the specific CFTR gene mutations an individual carries. Some mutations cause less severe dysfunction of the CFTR protein, resulting in a less intense clinical picture.

Why a Late Diagnosis Happens

Most cases of CF are diagnosed early in life, often through newborn screening programs. However, several factors can contribute to a late diagnosis, especially for those with atypical CF:

• Milder Symptoms: The individual may have milder respiratory and digestive symptoms that are easily mistaken for other conditions, such as asthma, chronic bronchitis, or chronic obstructive pulmonary disease (COPD).
• Single-Organ Involvement: Atypical CF may affect only one organ system, unlike classic CF, which typically involves multiple organs. For example, some individuals may have chronic respiratory issues without the severe digestive problems.
• Normal or Borderline Sweat Test: While an elevated sweat chloride test is a classic diagnostic marker for CF, people with milder mutations may have borderline or even normal sweat test results, delaying suspicion and diagnosis.
• Misdiagnosis: The individual's symptoms may be attributed to other common illnesses, leading to long-term misdiagnosis and inappropriate management.
• Lack of Family History: Without a family history of CF, there may be a lower clinical suspicion for the disease, especially in older adults.

The Diagnostic Process in Older Adults

For an older adult presenting with suggestive symptoms, a doctor will follow a careful diagnostic path:

1. Clinical Evaluation: A thorough medical history is taken, focusing on chronic respiratory infections, digestive issues, and any history of infertility or pancreatitis.
2. Sweat Chloride Test: This test remains a key diagnostic tool. A positive result usually involves a chloride concentration greater than 60 mmol/L, though some patients with milder mutations may fall into the borderline range (40-60 mmol/L).
3. Genetic Testing: A blood or cheek swab sample is used to check for CFTR gene mutations. With over 2,000 known mutations, a targeted panel may not catch all possibilities, but advancements have made testing very comprehensive.
4. Other Tests: Further tests like pulmonary function tests, chest imaging (CT scans to look for bronchiectasis), and assessment of pancreatic function are often performed to determine the extent of organ damage.

Common Symptoms of Late-Onset CF

Symptoms of late-onset CF differ from those of classic childhood CF due to their milder nature and years of progression. The following are commonly reported:

• Respiratory:
  • Chronic or recurring sinus and lung infections (bronchitis or pneumonia)
  • Persistent cough producing thick mucus
  • Chronic sinusitis and nasal polyps
  • Wheezing or shortness of breath
  • Bronchiectasis, especially in the upper lobes
• Digestive:
  • Recurrent pancreatitis
  • Foul-smelling, greasy stools
  • Malabsorption and poor weight gain
  • Cystic fibrosis-related diabetes (CFRD)
• Other:
  • Male infertility due to absence of the vas deferens
  • Salty-tasting skin
  • Osteoporosis or joint pain

Long-Term Management and Outlook

Receiving a diagnosis in later life does not mean the patient is without treatment options. Management for late-onset CF mirrors treatment for those diagnosed earlier, focusing on slowing disease progression and improving quality of life.

• Airway Clearance: Techniques and devices help dislodge and clear mucus from the lungs.
• Medications: Antibiotics are used to treat infections, while other medications, such as mucus-thinners and anti-inflammatories, are used to manage symptoms.
• CFTR Modulators: The development of CFTR modulator therapies represents a significant breakthrough. These drugs target the underlying genetic defect, improving CFTR protein function. They have dramatically increased life expectancy and improved outcomes for many with CF. Patients diagnosed later in life with certain mutations may be eligible for these groundbreaking treatments.
• Nutritional Support: Enzyme replacement therapy helps the body absorb nutrients, combating malnutrition.

Thanks to these advancements, the prognosis for individuals with CF has improved dramatically. The median age of survival for those born recently is predicted to be over 65, and many adults are living well into their 70s and beyond, underscoring the importance of considering CF as a possibility in older patients. You can learn more about CF and advancements in treatment from the Cystic Fibrosis Foundation.

Comparison of Classic vs. Late-Onset CF

Feature	Classic CF	Late-Onset / Atypical CF
Typical Diagnosis Age	Infancy or early childhood	Adolescence or adulthood (sometimes >65)
Symptoms	Multi-system involvement, severe symptoms	Milder symptoms, often single-organ focus
Pancreatic Function	Usually pancreatic insufficient	Often pancreatic sufficient
Sweat Chloride Test	Consistently high (>60 mmol/L)	Borderline or sometimes normal
Gene Mutations	Often severe mutations (e.g., deltaF508 homozygous)	Milder mutations, often compound heterozygotes
Main Issues	Severe respiratory and digestive problems	Chronic respiratory issues, pancreatitis, infertility

Conclusion

While it is biologically impossible to develop the genetic disease in your senior years, a 70-year-old can indeed be diagnosed with cystic fibrosis. The increasing number of older adults with CF is a testament to significant advancements in medical care. A late diagnosis highlights the variability of the disease, often involving milder, atypical symptoms that went unrecognized for decades. Increased awareness among both patients and physicians is crucial to ensure early intervention and access to life-extending therapies, regardless of when the initial diagnosis is made.

Frequently Asked Questions

Is it possible for a 70 year old to get cystic fibrosis?

No, a person cannot get cystic fibrosis at 70 because it is a genetic disease present from birth. However, it is possible for a 70-year-old to receive a diagnosis for a milder, atypical form of CF that has gone undetected for their entire life.

What kind of cystic fibrosis is typically diagnosed late in life?

A milder form of the disease, often called atypical cystic fibrosis, is more commonly diagnosed late. Patients with this form usually have less severe symptoms, may have normal pancreatic function, and can have milder mutations in the CFTR gene.

Why would cystic fibrosis go undiagnosed for so long?

Late diagnosis can occur for several reasons, including milder and less obvious symptoms, single-organ involvement, borderline sweat test results, and misdiagnosis as another condition, such as asthma or chronic bronchitis.

What are the symptoms of cystic fibrosis in older adults?

Common symptoms in older adults include recurrent sinus and lung infections, chronic cough, fatigue, shortness of breath, chronic pancreatitis, and potential malnutrition. Respiratory issues and male infertility are frequent markers.

How is a late diagnosis of cystic fibrosis confirmed?

Confirmation involves a combination of clinical evaluation, a sweat chloride test, and genetic testing for CFTR gene mutations. A specialist may also order additional tests like CT scans to assess organ damage.

Does a late diagnosis impact the treatment of cystic fibrosis?

A late diagnosis means that treatment starts later, potentially after some organ damage has occurred. However, effective management strategies, including medications and new CFTR modulators, are available to control symptoms, slow progression, and improve quality of life, regardless of the age at diagnosis.

Is late-onset cystic fibrosis hereditary?

Yes, it is just as hereditary as classic CF. All forms of CF are caused by inheriting two mutated CFTR genes, one from each parent. Carriers, who have one mutated gene, typically have no symptoms and can pass the gene to their children.