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.