Myelodysplastic syndrome (MDS) is a hematopoietic stem cell disease. The name is derived from the Greek: myelos (= marrow) and dysplasia (= malformation). A pathological clone of the hematopoietic stem cell shows a growth advantage, whereby normal hematopoiesis is disturbed or completely displaced.1
Myelodysplastic syndromes are rare diseases: The incidence is about 4 cases per 100000 persons per year across all age groups. The disease predominantly affects older people ( with an average age of 75 years), and the incidence rises sharply from the age of 60 years. Men are affected slightly more often than women, which is attributed to a higher occupational exposure to noxae (e.g. chemicals or radioactive radiation). However, a particular MDS subtype (del(5q)) is more common in women. Therapy-associated myelodysplastic syndromes (approximately 10%) may also occur after chemotherapy and/or radiotherapy. 1,2
At the beginning of the disease, myelodysplastic syndrome is often asymptomatic and detected as an incidental finding. The most frequent initial manifestation in approx. 70-80% of cases is anemia, which is often noticed during a routine examination. In a relevant proportion of patients, this causes a reduction in quality of life, increases the risk of falling and the risk of fractures, and leads to reduced cognition. In the case of anemia, erythrocyte transfusions and/or hematopoietic growth factors are indicated, and the resulting iron overload may necessitate therapy with iron chelators (iron binders). In the course of the disease, symptoms such as fatigue, weakness, palpitations, increased susceptibility to infections and an increased bleeding tendency can be observed. Treatment options depend on the stage of the disease, patient age and comorbidities and include stem cell transplantation, chemotherapy, immunomodulatory or immunosuppressive substances.1,2
1 Hofmann et al. Onkopedia guideline myelodysplastic syndromes (MDS). March 2021. Available at: https://www.onkopedia.com/de/onkopedia/guidelines/myelodysplastische-syndrome-mds/@@guideline/html/index.html (accessed 31.05.2022)
2 Giagounidis A & Germing U. Myelodysplastic syndromes. DGIM Internal Medicine, 21.04.2015.