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Diagnosis

Clinical Manifestation

Initial Patient Presentation

Most patients present with signs and symptoms of CF in childhood – about 18% within the first 24 hours of life.¹ However, a significant number of patients (approximately 7%) are not diagnosed until age 18 or older¹. There are several explanations for this:

• Mild disease does not manifest until later in life. These patients are usually pancreatic sufficient, so they have normal growth and height.
• DNA panels screen for only a minority of the possible CFTR mutations. Some patients may show only one or no mutations in testing, and these patients tend to present with few or with mild features of the disease.¹⁸
• CF may not be initially suspected because many of the symptoms of CF mimic those of several other diseases.³
• Before the 1980s, patients with CF typically died in childhood or adolescence; the majority of patients with CF now survive into adulthood.

As patients with CF are living longer, diagnosis and management practices can be dynamic and challenging.^1,27

References:
1. Boucher RC. Cystic Fibrosis. In: Kasper DL, Braunwald E, Fauci AS, Hauser SL, Longo DL, Jameson JL et al., editors. Harrison's Internal Medicine. 16th ed. New York: McGraw-Hill; 2005. p. 1-9.
3. Welsh M. Cystic Fibrosis. In: Goldman L, Ausiello D, eds. Cecil Textbook of Medicine. 22nd ed. Philadelphia: WB Saunders; 2004. p. 1-22.
18. Yankaskas JR, Marshall BC, Sufian B, Simon RH, Rodman D. Cystic fibrosis adult care: consensus conference report. Chest 2004 January;125(1 Suppl):1S-39S
27. Centres for Disease Control and Prevention: Newborn screening for Cystic Fibrosis. Atlanta, GA; U.S Department of Health and Human Services; 2004 Oct 15. Report number MMWR/53/RP-13