DIAGNOSTIC DILEMMAS IN PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Area of Science:

• Hematology
• Internal Medicine
• Clinical Diagnostics

Background:

• Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired clonal hematopoietic stem cell disorder.
• PNH is characterized by complement-mediated intravascular hemolysis, thrombosis, and bone marrow failure.
• Delayed diagnosis of PNH can lead to significant morbidity and mortality.

Purpose of the Study:

• To present clinical and hematological parameters in six PNH cases.
• To highlight the diagnostic challenges and delays in PNH.
• To emphasize the importance of specific diagnostic tests for PNH.

Main Methods:

• Retrospective case series analysis.
• Review of clinical presentations and laboratory findings in six PNH patients.
• Analysis of diagnostic pathways and time to diagnosis.

Main Results:

• Mean diagnostic delay was 3.7 years.
• Common presenting symptoms included pallor, reddish urine, and abdominal pain.
• Laboratory findings revealed anemia, unconjugated hyperbilirubinemia, and bone marrow erythroid hyperplasia.
• Complications included gallstones, disseminated tuberculosis, and cardiac failure.

Conclusions:

• PNH can present with atypical features, mimicking other hematological conditions.
• Prompt recognition of suggestive symptoms is crucial for timely diagnosis.
• Specific diagnostic tests, including hemosiderinuria, sucrose lysis test, and HAM's test, are essential for confirming PNH.