Peut-Hegler Anomaly and MDS

In Intern Report this week, we discussed Peut-Helger Anomaly. One of the key features of this is decreased lobulation as seen in the bilobed nucleus below connected by a thin strand.

This is in contrast to neutrophils with increased lobulation (or hypersegmentation, ie greater than five lobes) suggesting a megaloblastic process or (rarely!) iron deficiency anemia.

We also distinguished between easily confused MDS and MPNs. MDS leads to dysplastic cells. MPNs cause proliferation of cell lines, but these cell are often normal appearing.

Myelodysplastic syndromes are processes with ineffective hematopoiesis leading to dysplastic, hypercellular bone marrow and peripheral blood cytopenias
-most often idiopathic but can be secondary to chemotherapy, radiation, benzene
-make sure to rule out deficiencies (Vit b12, folate, copper), etoh consumption, meds, HIV
-PBS: dysplastic cells!
        -these cells don’t function well which is why these pts have an increased risk of infection and bleeding
-DX: BMBX
-Prognosis: variable depending on bone marrow blasts, degree of cytopenias, and cytogenetics
-Older patients who are asymptomatic and have mild features, can be monitored
-Allogeneic hematopoietic stem cell transplantation is the only potentially curative option–this is often too toxic for most older adults. Usually only done in young patients at high risk for AML conversion
        -treatment goals are to treat symptomatic cytopenias and reduce the risk of progression to AML
                 -high risk of AML conversion–>can give hypomethylating agents (azacytidine and decitabine)
                 -low risk (-5q abnormality)–>can give lenalidomide if transfusion dependent
Author: Juliette Logan, MD
Sources: MKSAP 18, Uptodate.com