D3.322 - Acquired chronic granulomatous disease secondary to myelodysplastic disorder
Case report
Background:
Increased susceptibility to infection is a recognized feature of myelodysplastic disorders and although mainly reflecting as neutropenia, frequent and severe infections occur also in patients with normal neutrophil counts suggesting a functional neutrophil abnormality with a mimicking clinical phenotype of chronic granulomatous disease (CGD) with clinical presentation of recurrent, life-threatening bacterial and fungal infections and granuloma formation. Defects in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex, phagocyte oxidase, is demonstrated in both conditions.
Methods:
We present a patient with a diagnosis of chronic myelomonocytic leukemia (CMML) and CGD-like clinical presentation. The patient underwent a neutrophil count and morphology assessment in addition a dihydrorhodamine (DHR) test was performed to assess neutrophil superoxide production. Following this case, we conducted an up to date literature review on neutrophil disfunction secondary to MDS.
Results:
A 70-years old patient diagnosed with CMML presented with granulomatous dermal inflammation and recurrent abscesses complicating with osteomyelitis secondary to catalase-positive microorganisms. The patient neutrophil count and morphology was normal and hence he underwent a DHR test demonstrating an abnormal neutrophil superoxide production. Prophylactic antibiotic administration of sulfamethoxazole-trimethoprim significantly reduced infection rate and improved overall clinical outcomes.
Literature review revealed only scarce case reports on neutrophil dysfunction in CMML and one prospective study on neutrophil dysfunction in MDS.
Conclusions:
Neutrophil dysfunction is a rare and under-recognized manifestation in CMML, with few documented cases. Given the limited literature on neutrophil dysfunction in myelodysplastic syndromes (MDS) and chronic myelomonocytic leukemia (CMML), our case offers valuable
clinical insights and underscores the importance of considering neutrophil function
tests, such as the dihydrorhodamine (DHR) assay, in patients with hematologic
malignancies presenting with unexplained infections. Our aim is to raise awareness that patients with hematologic malignancies may develop neutrophil dysfunction and may benefit from prophylactic antibiotic therapy. Moreover, when genetic testing is not applicable, diagnosis of CGD in adulthood should be followed by exclusion of MDS.
