Systematic review uncovers diagnostic delays and misdiagnoses in paroxysmal nocturnal hemoglobinuria, suggesting improved strategies are needed for better patient outcomes.
Key Points
This study aims to identify patterns behind the diagnostic delays and misdiagnoses in paroxysmal nocturnal hemoglobinuria (PNH).
Systematic review following PRISMA guidelines
Search conducted across PubMed, Embase, and Google Scholar for relevant case reports
Included cases with documented ≥12-month diagnostic delay or misdiagnosis
Data extracted on demographics, symptoms, misdiagnoses, diagnostic delays, and outcomes
Comparison made with data from international PNH registries.
Included 68 patients with median symptom onset age of 30 years, highlighting under-recognition in younger adults.
Median diagnostic delay was 24 months, with only 20.6% diagnosed within a year.
Frequent misdiagnoses included iron-deficiency anemia and aplastic anemia, accounting for over one-third of cases.
Rapid recognition often linked to unusual-site thromboses, with median delays for these cases being 3 months.
Under-reporting of race and ethnicity information was noted in 23.5% of cases.