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March 11, 2024

Cystic-Fibrosis Patient Journey Infographic

Cystic-Fibrosis Patient Journey Infographic

Patient Background

  • Age: 22 years old
  • Family History: No known family history of cystic fibrosis or cancer.
  • Onset of Symptoms: Chronic cough and digestive issues since early childhood, with a diagnosis of cystic fibrosis (CF) confirmed in infancy. The patient is heterozygous for the ΔF508del/N1303K CF mutation.


  • Persistent cough, wheezing, shortness of breath.
  • Malnutrition and failure to thrive in infancy (1).
  • Recurrent respiratory infections (1,2).
  • Cutaneous vasculitis presenting as a palpable purpuric rash over the tibial surfaces, ankles, and dorsa of the feet (3).
  • Arthritis associated with infective exacerbations of CF.

Cystic-Fibrosis Patient Journey Infographic

Cystic-Fibrosis Patient Journey Infographic

GP Visits and Initial Diagnosis (NHS):

  • Initially misdiagnosed with asthma and treated with inhalers with variable effect.
  • Referred to a specialist CF clinic for comprehensive assessment due to persistent symptoms.

Further GP Visit and Lab Tests:

  • GP ordered a sweat chloride test, which indicated a high chloride level, suggesting CF.
  • Referred for genetic testing, which confirmed the ΔF508del/N1303K mutation.
  • Blood work showed elevated acute phase reactants (C-reactive protein and fibrinogen) and rheumatoid factor.

Lab Results and Diagnosis:

  • Genetic testing confirmed the CF mutation.
  • Diagnosis of cystic fibrosis with pancreatic insufficiency and a predisposition to respiratory infections (4,5).
  • Cutaneous vasculitis associated with CF, confirmed by the presence of the rash and related symptoms (6,7,8).

Cystic-Fibrosis Patient Journey Infographic

Admission and Treatment (NHS hospital):

  • Admitted to the hospital for pulmonary exacerbations, treated with intravenous antibiotics and intensive airway clearance (9,10).
  • Started on a regimen of pancreatic enzyme replacement therapy, fat-soluble vitamins, and a high-calorie diet (11,12).
  • Treatment initiated with long-term oral prednisone for cutaneous vasculitis (13,14).
  • Colonization with Burkholderia cepacia complex (BCC) addressed with targeted antibiotics (15,16,17).

Treatment Outcome and Recovery:

  • Managed to maintain relatively stable lung function and nutritional status with adherence to the treatment regimen.
  • Cutaneous vasculitis symptoms improved with treatment, but required ongoing management.
  • Experienced occasional pulmonary exacerbations requiring hospitalization but generally maintained good overall health.


  • Continues to attend regular appointments at the CF clinic for monitoring and treatment adjustments.
  • Follows a daily treatment regimen including airway clearance, enzyme supplementation, and management of cutaneous vasculitis (18,19).
  • Remains under the care of a multidisciplinary team, including a CF specialist, dermatologist, dietitian, and physiotherapist (20). Use APA referencing style.