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Updated: Jul 18, 2026
05:56
Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
Published on: August 29, 2025
Cystic fibrosis presenting with haematological abnormalities
C C Minasian1, S Sriskandan, I M Balfour-Lynn
1Department of Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, Sydney Street, London, UK. c.minasian@rbht.nhs.uk
Clinical and Laboratory Haematology
|November 16, 2006
Summary
Atypical cystic fibrosis (CF) can delay diagnosis and treatment. This study highlights rare cases where children with CF presented with hematological abnormalities, leading to delayed diagnosis.
Area of Science:
- Pediatric Hematology
- Pulmonology
- Genetics
Background:
- Cystic Fibrosis (CF) is a common genetic disorder.
- Early diagnosis and treatment are crucial for managing CF.
- Atypical presentations can lead to diagnostic delays.
Observation:
- Three pediatric cases of CF with unusual hematological abnormalities are presented.
- These children exhibited symptoms not typically associated with CF.
- Extensive and invasive investigations were performed before CF diagnosis.
Findings:
- Hematological abnormalities can be an atypical presenting sign of Cystic Fibrosis in children.
- Delayed diagnosis in these cases resulted from non-classical symptoms.
- Recognizing these rare presentations is key to timely intervention.
Implications:
- Clinicians should consider CF in the differential diagnosis of unexplained hematological abnormalities in children.
- Awareness of atypical CF presentations can improve diagnostic timelines.
- Prompt diagnosis of CF, regardless of presentation, improves patient outcomes.
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