What are the clinical exam findings in a patient with Myelodysplastic Syndrome (MDS)?

From the Guidelines

Clinical exam findings in patients with Myelodysplastic Syndrome (MDS) are often nonspecific and may reflect the underlying cytopenias characteristic of this disease, with common presentations including signs of anemia, thrombocytopenia, and neutropenia. Patients commonly present with signs of anemia including pallor, fatigue, tachycardia, and occasionally a systolic flow murmur 1. Thrombocytopenia may manifest as petechiae, ecchymoses, or other bleeding manifestations such as gingival bleeding or epistaxis. Neutropenia can lead to recurrent infections, with patients potentially presenting with fever or localized signs of infection. Hepatosplenomegaly may be present in some cases, though this is more common in advanced disease or when MDS is transforming to acute myeloid leukemia. Lymphadenopathy is uncommon in MDS and should prompt consideration of alternative diagnoses. Some patients may exhibit skin manifestations such as Sweet's syndrome (acute febrile neutrophilic dermatosis) or other neutrophilic dermatoses.

Key Clinical Findings

• Signs of anemia: pallor, fatigue, tachycardia, systolic flow murmur
• Thrombocytopenia: petechiae, ecchymoses, bleeding manifestations
• Neutropenia: recurrent infections, fever, localized signs of infection
• Hepatosplenomegaly: more common in advanced disease or transformation to acute myeloid leukemia
• Lymphadenopathy: uncommon, consider alternative diagnoses
• Skin manifestations: Sweet's syndrome, other neutrophilic dermatoses It's essential to note that many patients with MDS, particularly those with lower-risk disease, may have no specific physical findings at all, with the diagnosis being made incidentally through routine blood work showing unexplained cytopenias 1. The definitive diagnosis requires bone marrow aspiration and biopsy, as physical examination alone is insufficient for diagnosis. A comprehensive diagnostic approach, including morphologic studies of peripheral blood and bone marrow, cytogenetics, and molecular analyses, is necessary to establish the diagnosis and guide treatment decisions 1.

From the Research

Clinical Exam Findings in Myelodysplastic Syndrome

The clinical exam findings in patients with Myelodysplastic Syndrome (MDS) can be summarized as follows:

• Chronic, progressive cytopenia, with a reduction in peripheral blood cells 2
• Abnormal cellular morphology, including megaloblasts, dissociated maturation of the nucleus and cytoplasm, abnormal multinucleated erythroblasts, and ringed sideroblasts in the erythrocytic lineage 2
• Hypersegmented or hyposegmented neutrophils, reduced or missing granules, and peroxidase-negative neutrophils in the granulocytic lineage 2
• Micromegakaryocytes, megakaryocytes with multiple, isolated disc-shaped nuclei, and giant platelets in the megakaryocytic lineage 2
• Ineffective hematopoiesis, resulting in premature cell death in the bone marrow 2, 3
• Increased risk of acute myeloid leukemia (AML) transformation, with a median age at diagnosis of approximately 70 years 3
• Signs and symptoms associated with anemia, thrombocytopenia, and neutropenia, including fatigue, infection, easy bruising, and bleeding 3, 4

Diagnostic Criteria

The diagnosis of MDS is based on:

• Morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy 5
• Information obtained from additional studies such as karyotype, flow cytometry, and molecular genetics 5
• The presence of clonal blood cells with morphological abnormalities in the marrow and peripheral blood 2

Risk Factors

The risk factors for MDS include:

• Older age 2, 3
• Prior exposures to toxins such as chemotherapy or radiation therapy 2, 3
• Advanced age, chromosomal abnormalities, and thrombocytopenia 2
• Male sex, with a higher incidence of MDS in men compared to women 3