Myelodysplastic Syndromes Explained: Causes, Risks, and What You Need to Know

Myelodysplastic syndromes (MDS) represent a group of diverse bone marrow disorders that originate in the hematopoietic stem cells of the myeloid lineage. These conditions are characterized by ineffective blood cell production, leading to abnormally low levels of red blood cells, white blood cells, or platelets—a condition commonly referred to as cytopenia. In clinical settings, MDS is often identified through routine blood tests showing persistent cytopenias alongside signs of dysplasia in the bone marrow.

Understanding the Core Features of MDS

One of the hallmark traits of myelodysplastic syndromes is dysplastic hematopoiesis—meaning the bone marrow produces blood cells that are malformed or do not function properly. This leads to chronic fatigue, increased susceptibility to infections, and uncontrolled bleeding or bruising due to low platelet counts. Over time, approximately 30% of MDS patients may progress to acute myeloid leukemia (AML), making early diagnosis and monitoring crucial for long-term outcomes.

Who Is Most at Risk?

MDS is predominantly diagnosed in older adults, with incidence rates rising significantly with age. According to U.S. epidemiological data, the prevalence among individuals over 80 years old reaches approximately 59.8 cases per 100,000 people—highlighting its status as a disease largely associated with aging. While it can occur in younger individuals, especially after exposure to certain environmental or medical risk factors, the majority of cases are seen in the geriatric population.

Known Environmental and Medical Triggers

Several external and therapeutic factors have been linked to the development of MDS. Prolonged exposure to toxic chemicals such as benzene—commonly found in household paints, adhesives, and solvents used during home renovations—has been strongly associated with increased risk. Additionally, personal use of hair dyes containing aromatic amines may contribute to stem cell damage over time.

Another significant cause is prior cancer treatment. Patients who have undergone chemotherapy or radiation therapy, particularly alkylating agents or topoisomerase II inhibitors, face a higher likelihood of developing therapy-related MDS (t-MDS), which often carries a more aggressive clinical course and poorer prognosis.

Secondary MDS and Associated Conditions

In some cases, MDS arises secondary to other malignancies or prolonged immune system challenges. Individuals with a history of certain solid tumors or lymphoproliferative disorders may later develop MDS, suggesting an underlying vulnerability in their hematopoietic system. Genetic predisposition, though less common, also plays a role, especially in younger patients without obvious environmental exposures.

Ongoing research continues to explore the molecular pathways involved in MDS, including mutations in genes like TET2, SF3B1, and ASXL1, which help refine diagnosis, predict progression, and guide personalized treatment strategies. As awareness grows and diagnostic tools improve, early detection offers new hope for managing this complex group of disorders.