Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare stem cell disorder which manifests typically as non-immune hemolytic anemia, haemoglobinuria, thrombosis, and renal impairment.

Aims: Misdiagnosis commonly found due to burdensome diagnostic approach, particularly in developing countries. This case illustrated an atypical manifestation of PNH appearing as vasculopathy.

Methods: A 29-year-old male patient with sudden-onset right leg pain preceded by non-immune hemolytic anemia in the previous month. At first the patient was suspected as having septic arthritis, however vasospasm developed in the whole leg. Thus, vascular Doppler ultrasound was indicated.

Results: A positive Ham test was obtained from the patient`s blood, supporting the diagnosis of PNH. However, there was no thrombus found albeit multiple times of Doppler ultrasound examination, supporting vasculopathy in this patient. Flow cytometry examination should have been utilised, as well as the treatment using Eculizumab. However, due to lack of resources, we could not do further examinations for this patient.

Conclusion(s): This case highlights atypical manifestation of PNH, the diagnostic approach, and what should have been done for the patient; considering the limited resources in the developing countries.

« Back to ISTH 2022 Congress

ISTH Congress Abstracts - https://abstracts.isth.org/abstract/vasculopathy-as-an-atypical-manifestation-of-paroxysmal-nocturnal-hemoglobinuria-a-case-report/