MDS is Associated with Pruritus, Though Uncommonly
Myelodysplastic syndrome (MDS) is associated with pruritus, but this association is relatively uncommon compared to other hematologic malignancies. The pruritus can precede the diagnosis of MDS by months and may be intractable, persisting despite standard antihistamine therapy 1.
Evidence for the Association
The British Association of Dermatologists guidelines 2 discuss haematological causes of generalized pruritus but notably do not specifically list MDS among the primary hematologic conditions associated with pruritus. The guideline emphasizes that polycythemia vera and Hodgkin lymphoma are the main hematologic causes, with myeloma presenting with pruritus "extremely rarely."
However, more recent research evidence demonstrates a clear association:
A 2022 large cohort study of 327,502 patients with undifferentiated pruritus found an increased 1-year risk of developing MDS (RR 1.74; 95% CI, 1.14-2.64) 3. Importantly, this elevated risk was only present in the first 12 months and normalized thereafter.
A 2019 case series specifically documented intractable pruritus as a primary presentation of both chronic myelomonocytic leukemia (CMML) and MDS 1. In two of these cases, the pruritus preceded the definitive diagnosis by months and was refractory to antihistamines.
A 2008 study found that among 84 MDS patients, 3 patients presented with prurigo nodularis 4, and the presence of skin manifestations was a significant predictor of high-risk MDS subgroup.
Clinical Implications
When to Suspect MDS in Pruritic Patients
Look for these specific features:
- Intractable pruritus unresponsive to antihistamines
- Absence of primary skin lesions (or only secondary excoriations)
- Associated constitutional symptoms: fatigue, weight loss, fever
- Any unexplained cytopenias on complete blood count
Diagnostic Approach
For patients with unexplained generalized pruritus 2:
- Obtain full blood count with blood film, lactate dehydrogenase, and ESR
- Note that LDH has limited diagnostic utility in pruritus workup despite being commonly ordered 3
- If cytopenias or monocytosis are present, proceed to bone marrow biopsy for definitive diagnosis 1
Important Caveats
- The pruritus may precede diagnostic features of MDS by months 1, making early diagnosis challenging
- Unlike polycythemia vera where aquagenic pruritus is characteristic, MDS-associated pruritus has no specific pattern
- The pathogenesis remains unclear but appears linked to the underlying biology of the myeloid disorder 1
- Treatment of the pruritus is difficult; in one case, it persisted despite achieving morphological remission with azacitidine but responded to cladribine 1
Bottom Line
While MDS is not among the most common hematologic causes of pruritus (unlike polycythemia vera or Hodgkin lymphoma), clinicians should maintain a high index of suspicion for MDS in patients with intractable, unexplained pruritus, particularly when accompanied by cytopenias. The pruritus can be a harbinger of MDS, appearing months before definitive diagnostic features emerge.