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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.

Symptoms:

• 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

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.

Follow-up:

• 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.