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Refractory anemia
Disease definition
Refractory cytopenias with unilineage dysplasia (RCUD) is a frequent low-risk subtype of myelodysplastic syndrome (MDS; see this term) characterized by refractory cytopenias associated with dysplasia limited to one cell lineage.
ORPHA:98826
Classification level: Disorder- Synonym(s): -
- Prevalence: Unknown
- Inheritance: Not applicable
- Age of onset: Adult, Childhood, Infancy, Adolescent, Elderly
- ICD-10: D46.7
- ICD-11: 2A30
- OMIM: -
- UMLS: C0002893
- MeSH: D000753
- GARD: -
- MedDRA: 10038269
Summary
Epidemiology
Exact prevalence is unknown but RCUD accounts for about 10% to 20% of patients with MDS which has a prevalence estimated to be 1/25,000 to 1/33,000. The disease tends to occur in older adults with a male predominance.
Clinical description
Clinical features are often nonspecific and are related to the underlying cytopenia. Patients are often asymptomatic and cytopenia is detected on routine blood tests. RCUD often has a prolonged and sometimes indolent course. Most patients with RCUD have refractory anemia (unilineage erythroid dysplasia), and very rarely refractory neutropenia (unilineage granulocytic dysplasia) or thrombocytopenia (unilineage megakaryocytic dysplasia). Anemia may be normocytic/normochromic but is often macrocytic. Blasts are absent or account for less than 1% in peripheral blood or less than 5% in bone marrow, and no Auer rods are present.
Etiology
The etiology is not known but is thought to involve inherited susceptibility or hematopoietic stem cell damage.
Prognosis
Median survival is reported to be 6 to 7 years and 5% to 10% of patients progress to acute leukemia.
A summary on this disease is available in Español (2015) Italiano (2015) Nederlands (2015)
Detailed information
Guidelines
- Clinical practice guidelines
- Français (2008) - PNDS
- English (2013) - Blood
- English (2015) - Blood
- English (2017) - Blood
Disease review articles
- Review article
- Deutsch (2021) - Onkopedia
- English (2021) - Onkopedia
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produced/endorsed by FSMR(s)Additional information