The 51st Annual Meeting of the European Society for Blood and Marrow Transplantation: Physicians Award Winners (O001-O007)
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November 5, 2025
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0 min
NSAIDs as Effective Therapy for Ghosal Hematodiaphyseal Dysplasia: EBMT 2025 Highlights
Overview
The 51st EBMT Annual Conference presented compelling evidence supporting NSAIDs as a safe and effective first-line treatment for Ghosal hematodiaphyseal dysplasia (GHD), a rare bone marrow failure syndrome. Long-term follow-up of eight patients treated with NSAIDs showed complete hematologic response without treatment-related adverse events, contrasting with the complications commonly seen with corticosteroids.
Background
Ghosal hematodiaphyseal dysplasia (GHD) is a rare autosomal recessive disorder caused by biallelic TBXAS1 mutations, characterized by severe anemia and painful diaphyseal cortical hypertrophy of long bones. Standard treatment with corticosteroids alleviates hematologic symptoms but often leads to significant iatrogenic complications. Recent reports have suggested that NSAIDs targeting COX1 and COX2 may be effective alternatives. Diagnosis is challenging due to hard bone marrow and non-aspirable marrow samples, with bone marrow biopsies showing hypoplasia and fibrosis.
Data Highlights
| Parameter | Value |
|---|---|
| Number of patients | 8 |
| Median age at NSAID initiation | 23.7 years (range 3.8–39.0) |
| Median time from symptom onset to treatment | 11.7 months (range 4.9–151.3) |
| Median follow-up duration | 16.5 months (range 5.9–64.5) |
| Hemoglobin response time | Median 3.0 months (range 0.3–13.0) |
| Platelet response time | Median 2.0 months (range 0.3–11.9) |
| NSAID dosing | High-dose aspirin/ibuprofen in 3 patients; low-dose aspirin (75 mg/day) in 5 patients |
| Patients requiring aspirin dose escalation | 2 (from 75 mg to 250 mg/day) |
| Treatment-related adverse events | None reported |
Key Findings
- All eight patients with GHD achieved hemoglobin (>10 g/dL) and platelet (>100 × 109/L) responses without transfusions after NSAID therapy.
- Median time to hematologic response was 3 months for hemoglobin and 2 months for platelets.
- Two patients initially on low-dose aspirin required dose escalation to 250 mg/day to achieve response.
- No treatment-related adverse events were observed during follow-up, indicating a favorable safety profile compared to corticosteroids.
- Bone marrow biopsies showed severe hypoplasia, interstitial edema, and fibrosis; bone imaging revealed diaphyseal cortical hypertrophy consistent with GHD.
- NSAIDs represent an effective and less toxic alternative to corticosteroids for managing GHD symptoms.
Clinical Implications
Clinicians should consider GHD in patients presenting with predominant anemia and characteristic bone abnormalities, especially when bone marrow aspiration is difficult. Screening for TBXAS1 mutations is recommended in inherited bone marrow failure syndromes prior to hematopoietic stem cell transplantation. NSAIDs offer a promising first-line therapeutic option with efficacy and minimal toxicity, potentially reducing reliance on corticosteroids and their associated complications.
Conclusion
NSAID therapy demonstrates complete efficacy and a favorable safety profile in managing GHD, supporting its use as a first-line treatment. Incorporating TBXAS1 mutation screening and recognizing GHD features can improve diagnosis and patient outcomes.
References
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