eMedicine Specialties > Pediatrics: General Medicine > Hematology
Pelger-Huet Anomaly: Differential Diagnoses & Workup
Updated: Mar 25, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Differential Diagnoses
Enteroviral Infections
Malaria
Myelodysplasia
Myelodysplastic Syndrome
Panhypopituitarism
Other Problems to Be 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. This appearance is often described as pince-nez. Cells that contain twin, joined, and plump nuclei resembling dumbbells are predominant. A thin bridge, which is thinner than that observed in a normal band neutrophil, joins the 2 lobes. Although rare, homozygous individuals are described.
- About 69-93% of the neutrophils show nuclear segmentation that is arrested at the bilobe level. A small population of neutrophils that possess a nonlobulated oblong or peanut-shaped nucleus is often present.
- Less than 10% of cells contain 3 lobes; 4 lobes are rare.
- Most neutrophils have excessively coarse clumping of the nuclear chromatin. 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.
- The bone marrow of homozygous patients reveals normal morphologic features in the myeloid precursors to the myelocyte stage.
- Electron microscopy reveals persistence of nucleoli in the mature neutrophils that contain a single oval nucleus. This finding suggests altered and retarded nuclear maturation of the myeloid precursors.
- When Pelger-Huët cells are identified, initially attempt to determine if the patient has a benign inherited anomaly, an acquired morphologic feature associated with a transient condition, or evolving myelodysplasia.
- Acquired or pseudo-PHA cells may appear morphologically similar to those observed in the hereditary form; therefore, determining whether detailed workup is necessary may be difficult.
- In the hereditary form of PHA, an autosomal dominant pattern should be present, and this finding in other family members may be helpful and reassuring.
- In this condition, no other cell line should be involved. In contrast, if anemia or thrombocytopenia are observed, perform an evaluation to exclude a hematologic malignancy.
- Pseudo-PHA cells may be predicative of the clinical onset of myelodysplastic disorders and malignant conditions, such as acute myelogenous leukemia, chronic myelogenous leukemia, or myelofibrosis. Therefore, if clinical suspicion warrants it, bone-marrow aspiration and biopsy are necessary.
More on Pelger-Huet Anomaly |
| Overview: Pelger-Huet Anomaly |
 Differential Diagnoses & Workup: Pelger-Huet Anomaly |
| Treatment & Medication: Pelger-Huet Anomaly |
| Follow-up: Pelger-Huet Anomaly |
| Multimedia: Pelger-Huet Anomaly |
| References |
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References
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Kalfa TA, Zimmerman SA, Goodman BK, et al. Pelger-Huët anomaly in a child with 1q42.3-44 deletion. Pediatr Blood Cancer. May 1 2006;46(5):645-8. [Medline].
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Further Reading
Keywords
Pelger-Huet anomaly, Pelger-Huët anomaly, Pelger-Huët nuclear anomaly, Pelger-Huet nuclear anomaly, PHA, pelgerization, LBR gene, pseudo-PHA, acquired PHA, Pelger-Huët cells, Pelger-Huet cells, 1q42, myeloid leukemia, myelodysplasia, acute lymphocytic leukemia, hydrops, ectopic calcifications, moth-eaten dysplasia syndrome, Greenberg syndrome, HEM, developmental delay, seizures, skeletal anomalies, skeletal dysplasia
