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Clinical Report: Co-occurrence of Systemic Lupus Erythematosus and Paroxysmal Nocturnal Hemoglobinuria

Background

Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by immune dysregulation and complement activation, often leading to hematologic abnormalities. Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic disorder associated with complement-mediated hemolysis. The co-occurrence of SLE and PNH is underrecognized.

Data Highlights

In a study of 8 patients with SLE and PNH, the following findings were noted: 37.5% experienced thrombotic events, and 87.5% had detectable hemolysis. The presence of small PNH clones (<10% granulocytes) was identified in SLE patients, which may contribute to clinical hemolysis.

Key Findings

• A 42-year-old woman with SLE exhibited persistent cytopenia and Coombs-negative hemolysis.

• High-sensitivity flow cytometry identified GPI-deficient clones consistent with PNH.

• Clinical improvement was observed following treatment for SLE, with stable small granulocyte PNH clone over 2 years.

• In a literature review of 8 cases, thrombotic events occurred in 37.5% of patients and detectable hemolysis in 87.5%.

• Small PNH clones (<10% granulocytes) may contribute to clinical hemolysis in SLE patients.

Clinical Implications

PNH screening is recommended in SLE patients with unexplained cytopenia or Coombs-negative hemolysis.

Conclusion

The coexistence of SLE and PNH highlights the importance of recognizing small PNH clones in clinical practice.

Related Resources & Content

1. Blood Cancer Journal, 2021 -- Can Nature Heal Itself? Exploring Spontaneous Remissions in Paroxysmal Nocturnal Hemoglobinuria

2. Blood Cancer Journal, 2021 -- Mutational landscape and its clinical significance in paroxysmal nocturnal hemoglobinuria

3. Blood Cancer Journal, 2021 -- Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

4. EULAR recommendations for the management of systemic lupus erythematosus: 2023 update - ScienceDirect

5. KDIGO 2024 Clinical Practice Guideline for the Management of Lupus Nephritis

6. Blood Cancer Journal — Small Populations of GPI(-) Granulocytes in Aplastic Anemia and Healthy Subjects Arising from Limited PIGA-Mutated Hematopoietic Stem Progenitor Cells

7. The immunology of systemic lupus erythematosus | Nature Immunology

8. ICCS/ESCCA Consensus Guidelines to detect GPI-deficient cells in Paroxysmal Nocturnal Hemoglobinuria

9. EULAR recommendations for the management of systemic lupus erythematosus: 2023 update - ScienceDirect

10. KDIGO 2024 Clinical Practice Guideline for the Management of Lupus Nephritis

11. ICCS/ESCCA Consensus Guidelines to detect GPI‐deficient cells in Paroxysmal Nocturnal Hemoglobinuria (PNH) and related Disorders Part 1 – Clinical Utility - Dezern - 2018 - Cytometry Part B: Clinical Cytometry - Wiley Online Library

12. FLAER as a standalone reagent for paroxysmal nocturnal hemoglobinuria: Do we need to reconsider the guidelines for testing? - PubMed

13. When does a PNH clone have clinical significance? - PMC

14. TYPE Review

15. Novartis receives FDA approval for Fabhalta® (iptacopan), offering superior hemoglobin improvement in the absence of transfusions as the first oral monotherapy for adults with PNH | Novartis United States of America

16. Drug Trials Snapshots: VOYDEYA | FDA

17. PIASKY (crovalimab-akkz) Highlights of Prescribing Information

18. Paroxysmal Nocturnal Hemoglobinuria in Patients with Systemic Lupus Erythematosus: Diagnostic Challenges and Improvement with C5 Inhibitor Treatment - PubMed

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