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Case Reports
. 2024 Aug 19;16(8):e67194.
doi: 10.7759/cureus.67194. eCollection 2024 Aug.

Deciphering Paroxysmal Nocturnal Hemoglobinuria: An Unusual Paradigm of Hemolytic Anemia

Soumya Athota  1 , Sowmya Gopalan  1 , Preetam Arthur  1 , Ananthvikas Jayaram  2 , Anjali Satish  1
Affiliations
Case Reports

Deciphering Paroxysmal Nocturnal Hemoglobinuria: An Unusual Paradigm of Hemolytic Anemia

Soumya Athota et al. Cureus. .

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH), a clonal hematopoietic stem cell disorder, arises from the increased sensitivity of red blood cells (RBC) to complement due to an acquired deficiency of certain glycosylphosphatidylinositol (GPI)-linked proteins, resulting in chronic intravascular hemolysis, arterial and venous thrombotic phenomena, multi-organ damage, and failure. We present an intriguing case of hemolytic anemia, initially suspected to be drug-induced, and later found to be associated with PNH, despite being a subclinical clone. A clinician should not hesitate to repeat fluorescent-labeled aerolysin (FLAER) cytometry if the clinical picture strongly favors a diagnosis of PNH. This case marks the importance of testing for PNH clones in autoimmune hemolytic anemia (AIHA) since their prevalence is not negligible and may correspond to a prominent hemolytic pattern, a higher thrombotic risk, and a higher therapeutic indication, such as eculizumab. This underscores the significance of conducting a thorough evaluation for occult causes of treatment-unresponsive hemolytic anemia, paving options for an early and alternative therapeutic approach.

Keywords: aretrial and venous thromboses; drug-induced immune hemolytic anemia; eculizumab; pnh; pnh flow cytometry; sub clinical clones.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Radiograph of the chest
Figure 2
Figure 2. An ultrasonogram of the abdomen without hepatosplenomegaly
Figure 3
Figure 3. A normal echocardiogram (apical four-chamber view), without any left ventricular dysfunction or regional wall motion abnormality
RA: right atria; LA: left atria; RV: right ventricle; LV: left ventricle
Figure 4
Figure 4. PET-CT scan of the whole body showing FDG uptake (SUV 11.23) in an isolated right supraclavicular lymph node (12 x 9 mm), with no significant uptake observed elsewhere.
PET-CT: positron emission tomography-computed tomography; FDG: fluorodeoxyglucose; SUV: standardized uptake value
Figure 5
Figure 5. Microphotograph showing multiple epithelioid granulomas with multinucleated giant cells in a background of lymphocytes (H&E, 100X).
Figure 6
Figure 6. CT cerebral venogram showing partial thrombosis in the left sigmoid sinus and left transverse sinus.
Figure 7
Figure 7. CT pulmonary angiogram showing acute pulmonary thromboembolism.
Figure 8
Figure 8. Flow cytometry analysis for fluorescent-labeled aerolysin (FLAER)-deficient neutrophils and monocytes, which were identified using specific non-glycosylphosphatidylinositol (GPI) dependent markers CD15 and CD64, respectively (left corner); The center and right panels show a combination of FLAER and CD157 used to identify CD157-negative neutrophils and monocytes.
Figure 9
Figure 9. Pre-gangrenous changes with arterial ulcers in the lower limb.
Figure 10
Figure 10. Features of peripheral arterial disease in a CT arteriogram of the lower limb vessels.
See this image and copyright information in PMC

References

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