Skill Checkup: A 72-Year-Old Woman With Myelodysplastic Syndrome Presents With Persistent Anemia and Fatigue

Emmanuel C. Besa, MD


April 08, 2022

Because this patient's anemia is not responding to treatment, the likely diagnosis is MDS with ESA-refractory anemia. ESAs are recommended as first-line therapy for the treatment of symptomatic anemia in patients with MDS. However, most patients with MDS either do not respond to ESAs or will eventually develop resistance to these agents. The median duration of response is approximately 18-24 months.

Although symptomatic anemia is a major morbidity of MDS, the anemia described in the present case — refractory anemia with ring sideroblasts (RARS) — is a lower-risk MDS caused by abnormal mitochondrial iron metabolism. In addition to anemia, this subset of disease is characterized by dyserythropoiesis and ≥ 15% ring sideroblasts.

MDS-RARS accounts for about 3%-10% of MDS cases, and median age of presentation is 71 years, with a slight male predominance. Patients with RARS have a favorable prognosis, with a median survival of 7-9 years or longer and a low rate of conversion to AML (< 5%). The JAK2 V617F mutation is generally uncommon in MDS, but it has been reported in 30%-90% of patients with RARS. SF3B1 is the most frequently mutated splicing factor gene in MDS, and it is associated with better outcomes and longer survival. In this case, the presence of this mutation confirms a diagnosis of MDS over secondary causes of ring sideroblasts (ie, alcohol or inherited type).

Anemia in MDS may or may not be symptomatic at presentation and varies in degree, from mild to severe. Clinical symptoms of MDS, such as the fatigue described by this patient, arise because of low peripheral blood counts, usually from anemia but also from thrombocytopenia or neutropenia.


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