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Pelger-Huet Anomaly (Diagnosis)

eMedicine Pediatrics, 2011

Considered The practical importance of identifying Pelger-Huët anomaly (PHA) lies in distinguishing this defect from a bandemia with a left-shifted peripheral blood smear and neutrophilic band forms and from an increase in young neutrophilic forms that can be observed in association with infection.
Acquired or pseudo-PHA often develops in the course of acute or chronic myelogenous leukemia and in myelodysplastic syndromes.
In patients with these conditions, the pseudo–Pelger-Huët cells tend to appear late in the disease and often appear after considerable chemotherapy has been administered.
The morphologic changes have also been described in myxedema associated with panhypopituitarism, vitamin B-12 and folate deficiency, multiple myeloma, enteroviral infections, malaria, muscular dystrophy, leukemoid reactions secondary to metastases to the bone marrow, and drug sensitivity.
The acquired neutrophil nuclear changes observed in these conditions can be differentiated from the constitutional form as follows: Fewer bilobed cells and a higher percentage of normal trilobed neutrophils are present in patients with pseudo–PHA than in patients with the constitutional form of PHA, and leukemic and immature cells may be present.
Workup Laboratory Studies Examination of a peripheral blood smear in an individual heterozygous for Pelger-Huët anomaly (PHA) is remarkable for neutrophils with a predominance of bilobed, spectacle-shaped nuclei.
A small population of neutrophils that possess a nonlobulated oblong or peanut-shaped nucleus is often present.
The finding of similar abnormalities in the blood smear of other family members may help in establishing the diagnosis.
The homozygous state results in neutrophils that contain a single, round, eccentric nucleus with clumped chromatin and little or no nuclear segmentation.
In contrast to the less than 40% of single-lobed neutrophils typically present in heterozygous individuals, most neutrophils in homozygous individuals are round or oval.
In homozygous individuals, the basophils, eosinophils, and megakaryocytes also show dense nuclear chromatin and rounded nuclear lobes.