Cystic Fibrosis in Adults

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Diagnostic Protocol for Cystic Fibrosis in Adults

The diagnosis of cystic fibrosis (CF) in adults follows a similar protocol to that used in children but often involves a more detailed evaluation due to the variability in symptom presentation and the possibility of atypical or mild forms of the disease. Below is a detailed protocol for the assessment and diagnosis of CF in adults:

Clinical Evaluation:

  • Medical History:
    Gather a comprehensive medical history, including a family history of CF, recurrent respiratory infections, chronic sinusitis, pancreatitis, or infertility (especially in men).

  • Symptom Assessment:
    Evaluate symptoms such as chronic cough, sputum production, recurrent lung infections, sinusitis, nasal polyps, breathing difficulties, digestive problems, and poor weight gain despite good appetite.

Physical Examination:

Conduct a thorough physical exam, focusing on the respiratory, digestive, and other systems potentially affected by CF.

Sweat Test:

  • Quantitative Pilocarpine Iontophoresis Sweat Chloride Test:
    This is the gold standard for diagnosing CF. It measures the chloride concentration in sweat.

  • Procedure:
    Pilocarpine is applied to the skin to stimulate sweat production, which is then collected and analyzed.
    A chloride level of 60 mmol/L or higher typically indicates CF.

Genetic Testing:

  • CFTR Gene Mutation Analysis:
    Identify mutations in the CFTR gene. Since adults may present with atypical CF, it is important to search for both common and rare mutations.

  • Procedure:
    A blood sample or cheek swab is taken for DNA analysis. Full gene sequencing may be necessary to detect rare mutations.

Additional Diagnostic Tests:

  • Nasal Potential Difference (NPD) Test:
    Evaluates the electrical potential difference across the nasal epithelium, indicating CFTR function.

  • Pancreatic Function Tests:
    Assess pancreatic enzyme levels in stool or blood to evaluate for pancreatic insufficiency.

  • Chest X-ray or CT Scan:
    Look for typical lung changes associated with CF, such as bronchiectasis or mucus plugging.

  • Pulmonary Function Tests (PFTs):
    Measure lung function to assess the extent of airway involvement.

Advanced Testing in Atypical CF:

  • Extended Genetic Testing:
    If no mutations are found on initial testing, further testing may include full gene sequencing to detect rare mutations.

  • Repeat Sweat Test:
    If initial results are borderline (30–59 mmol/L), repeat the sweat test to confirm the findings.

Exclusion of Other Conditions:

Ensure that symptoms are not due to other conditions such as:

  • Primary ciliary dyskinesia

  • Chronic obstructive pulmonary disease (COPD)

  • Asthma

  • Other causes of bronchiectasis

Evaluation by a Multidisciplinary Team:

  • Pulmonologist: For respiratory symptoms and lung function assessment.

  • Gastroenterologist: For digestive symptoms and pancreatic function evaluation.

  • Genetic Counselor: For interpretation of genetic test results and family planning discussions.

  • Dietitian: For nutritional assessment and management.

Summary:

  • Initial Assessment: Detailed medical history, symptom review, and physical examination.

  • Primary Diagnostic Test: Sweat chloride test.

  • Genetic Testing: CFTR mutation analysis.

  • Additional Tests: NPD test, pancreatic function testing, imaging studies, and pulmonary function testing.

  • Advanced Testing: For atypical CF, extended genetic testing and repeat sweat tests.

  • Differential Diagnosis: Rule out other diseases with similar symptoms.

  • Multidisciplinary Care: Comprehensive evaluation by a team of specialists.

A definitive diagnosis of CF in adults typically requires identification of CFTR gene mutations, clinical symptoms, and confirmatory sweat chloride test results.
Regular follow-up and management by a multidisciplinary team are essential for ongoing care.

Note: Spirometry (lung function testing) alone cannot confirm a diagnosis of cystic fibrosis.

See also related: Sarcoidosis Diagnosis Criteria
https://swaresearch.blogspot.com/2024/06/sarcoidosis-diagnosis-criteria.html

Referenc: 

Späte Diagnose / Diagnose im Erwachsenenalter:
https://www.muko.info/mukoviszidose/diagnostik/diagnose-im-erwachsenenalter

Here are some references that detail the protocol and guidelines for diagnosing cystic fibrosis, especially in adults:

  1. Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., Howenstine, M. S., McColley, S. A., Rock, M., Rosenfeld, M., & Sermet-Gaudelus, I. (2017). Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation. Journal of Pediatrics, 181S, S4-S15.e1.

    • This article provides comprehensive guidelines from the Cystic Fibrosis Foundation on the diagnosis of cystic fibrosis, including protocols for newborn screening, sweat chloride testing, and genetic analysis.

  2. Flume, P. A., Mogayzel, P. J. Jr, Robinson, K. A., Goss, C. H., Rosenblatt, R. L., Kuhn, R. J., Marshall, B. C. (2009). Cystic fibrosis pulmonary guidelines: treatment of pulmonary exacerbations. American Journal of Respiratory and Critical Care Medicine, 180(9), 802-808.

    • This guideline outlines the management of pulmonary aspects of cystic fibrosis, including diagnostic approaches and treatment protocols.

  3. Ratjen, F. A., & Döring, G. (2003). Cystic fibrosis. Lancet, 361(9358), 681-689.

    • This review article discusses the pathophysiology, clinical presentation, and diagnostic strategies for cystic fibrosis, with insights into adult diagnosis and management.

  4. De Boeck, K., & Davies, J. C. (2016). Where are we with transformational therapies for patients with cystic fibrosis? Current Opinion in Pharmacology, 34, 70-75.

    • This article explores advancements in cystic fibrosis therapies and their implications for diagnosis and treatment, with a focus on adult patients.

  5. Castellani, C., Southern, K. W., Brownlee, K., Dankert-Roelse, J., Duff, A., Farrell, M., ... & Sermet-Gaudelus, I. (2009). European best practice guidelines for cystic fibrosis neonatal screening. Journal of Cystic Fibrosis, 8(3), 153-173.

    • These guidelines provide a European perspective on cystic fibrosis screening and diagnosis, applicable to both children and adults.

  6. Hamosh, A., FitzSimmons, S. C., Macek Jr, M., Knowles, M. R., Rosenstein, B. J., & Cutting, G. R. (1998). Comparison of the clinical manifestations of cystic fibrosis in black and white patients. Journal of Pediatrics, 132(2), 255-259.

    • This study compares clinical manifestations of cystic fibrosis across different populations, which can be useful in understanding variable presentations in adults.

  7. Elborn, J. S. (2016). Cystic fibrosis. Lancet, 388(10059), 2519-2531.

    • A comprehensive review of cystic fibrosis, discussing the disease's genetic basis, diagnostic protocols, and advances in treatment, with relevance to adult patients.

These references provide detailed information on the protocols, diagnostic criteria, and management guidelines for cystic fibrosis in both children and adults.

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9


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