|Year : 2020 | Volume
| Issue : 4 | Page : 255-258
Pelger-Huet anomaly: A Rare case report
B Padmapriya, B Venkata Satya Kartheek, Sridhar Reddy Bodhireddy, Bhagyalakshmi Atla
Department of Pathology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India
|Date of Submission||05-Feb-2020|
|Date of Acceptance||05-Feb-2020|
|Date of Web Publication||6-Jan-2021|
Dr. Bhagyalakshmi Atla
Prof. and HOD, Department of Pathology, Andhra Medical College, Visakhapatnam, Andhra Prasesh - 530 002
Source of Support: None, Conflict of Interest: None
Pelger-Huet anomaly (PHA) is a rare benign genetic disorder affecting terminal differentiation of granulocytes. Granulocytes have hyposegmented nuclei with normal cytoplasmic granularity and perform immune function. Knowledge about PHA is necessary to avoid misdiagnosis of hyposegmented granulocytes as increased band forms (bandemia) and to differentiate it from pseudo Pelger-Huet cells found in certain pathological conditions. Here, we report a case of PHA in neutrophils of a 46-year-old female found during routine peripheral smear examination. Further work up in family members revealed her siblings and her son were also having Pelger-Huet neutrophils in peripheral smear.
Keywords: Benign, familial, hyposegmented granulocytes, Pelger-Huet anomaly
|How to cite this article:|
Padmapriya B, Kartheek B V, Bodhireddy SR, Atla B. Pelger-Huet anomaly: A Rare case report. J NTR Univ Health Sci 2020;9:255-8
| Introduction|| |
Pelger observed the first case of hyposegmented granulocytes in 1928. Huet reported another case of hyposegmented granulocytes in 1932. Laminin B receptor gene (LBR) is located on chromosome 1q41-43. Mutation of LBR gene is responsible for two inherited conditions, namely, autosomal dominant Pelger-Huet anomaly (PHA) and autosomal recessive Greenberg skeletal dysplasia/HEM (Hydrops, ectopic calcification, moth-eaten).,,, LBR gene encodes for LBR protein which binds inner nuclear membrane to heterochromatin in granulocytes. Amount of LBR protein determines the segmentation of nucleus.,,, Granulocytes in PHA have bilobed nucleus or unsegmented nucleus (round, oval), pyknotic condensed chromatin, and normal cytoplasmic granularity. The incidence of heterozygous form is 1 in 6000 population., Homozygous form is very rare and is reported to be associated with epilepsy, skeletal abnormalities, and developmental delay. So far in English literature, less than ten cases of homozygous cases are reported.,
| Case Report|| |
A 46-year-old female admitted in respiratory medicine department with complaint of hemoptysis for 2 months. On peripheral examination, we found 80% of neutrophils were having bilobed nucleus resembling band cells [Figure 1] and coarse chromatin and presence of normal granules in them; 15% of neutrophils had unsegmented ovoid nucleus resembling meta myelocytes [Figure 2]; and 5% had three-lobed nucleus with normal total and differential leukocyte counts. Other hematological parameters were within normal limits. We screened peripheral smear of her son and siblings for the presence of similar morphology of neutrophils. All of them are having hyposegmented neutrophils with no clinical complaints. There was no history of drug intake in patient and family members. Since members of the family had hyposegmented neutrophils without any clinical complaints, we made a diagnosis of Familial PHA. Complete blood counts, differential counts, and neutrophil nuclear lobe counts of patient and her family members are given in [Table 1], [Table 2], and [Table 3] respectively.
|Figure 1: Leishman.stained peripheral smear of patient shows one characteristic pince-nez neutrophil (on left), one neutrophil with dumbbell-shaped nucleus (on center) and another bilobed neutrophil (on right). All neutrophils in this field have condensed coarse chromatin (Type B cells)|
Click here to view
|Figure 2: Leishman-stained peripheral smear of patient shows a neutrophil with unsegmented nucleus with nuclear indentation and condensed chromatin (Type C cells)|
Click here to view
|Table 2: Differential Leucocyte Count in Leishman-Stained Peripheral Smears of Patient and Family Members|
Click here to view
|Table 3: Ham'S Classification of Neutrophils in Leishman-Stained Peripheral Smear of Patient and Her Family Members|
Click here to view
| Discussion|| |
Granulocytes in PHA are mature cells evidenced by coarse chromatin of nucleus and normal cytoplasmic granules. Eosinophils, lymphocytes, and monocytes are also affected in this condition [Figure 3]. They are misinterpreted as immature band forms because of peculiar bilobed dumbbell-shaped nuclear morphology, and workup for bandemia will be done unnecessarily. Granulocytic precursors have high nuclear cytoplasmic ratio with open nuclear chromatin, whereas Pelger-Huet cells have normal nuclear cytoplasmic ratio with dense coarse nuclear chromatin.
|Figure 3: Leishman-stained peripheral smear of patient shows an eosinophil with cytoplasmic granules and unsegmented nucleus and condensed chromatin|
Click here to view
Pseudo Pelger-Huet cells are granulocytes with similar morphology as congenital Pelger-Huet cells seen in certain pathological conditions such as myelodysplastic syndrome, hematological disorders (polycythemia vera, chronic myeloid leukemia, multiple myeloma), infections (tuberculosis, malaria, and influenza), and following intake of certain drugs such as sulfisoxazole, valproic acid, tacrolimus, colchicine, and mycophenolate mofetil., In all the above conditions of pseudo Pelger-Huet cells, there will be a predominance of three-lobed neutrophils and less percentage of pelgeroid neutrophils. Moreover, all three lineages are affected in hematological neoplasms. Toxic vacuolations and toxic granules are seen in pelgeroid granulocytes in severe infections.,
According to Ham's classification (1955), neutrophils are classified into three categories.,,
Type A: neutrophils with more than two nuclear lobes.
Type B: neutrophils with two nuclear lobes (dumbbell-shaped). These are misinterpreted as granulocytic band cells. Pince-nez cell is characterized by neutrophil with two symmetrical nuclear lobes connected by a thin strand of chromatin [Figure 1].
Type C: neutrophils with unsegmented round or ovoid nuclei known as Stodmeisters form [Figure 2]. They are misinterpreted as granulocytic metamyelocyte.
In pseudo Pelger-Huet conditions, type A cells predominate with less percentage of type B and type C cells.
In the congenital heterozygotic form of PHA, type B cells predominate with less percentage of type C and type A.
In the congenital homozygotic form of PHA, type C cells predominate with less percentage of type A and type B cells.
Ham's classification of neutrophils seen in our patient and family members is given in Table 3.
Pelger-Huet neutrophil has normal biochemical, phagocytic, metabolic, chemotactic, and bactericidal ability as compared to neutrophils in a healthy subject. Fewer studies also had documented impaired chemotaxis in Pelger-Huet neutrophils because of hyposegmented nucleus.,
| Conclusion|| |
Pelger-Huet anomaly is a benign inherited disorder without having any clinical effects in heterozygotes. The importance lies in differentiating it from bandemia and pseudo Pelger-Huet cells caused by pathological conditions. This case report also insists on manual examination of peripheral smear rather than solely depending on automated hematological analyzers in order to identify morphological abnormalities of blood cells.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Colella R, Hollensead SC. Understanding and recognizing the Pelger-Huët anomaly. Am J Clin Pathol 2012;137:358-66.
Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Pelger–Huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet Part A 161A 2013;2066-73.
Hoffmann K, Dreger CK, Olins AL, Olins DE, Shultz LD, Lucke B, et al
. Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (PelgerHuët anomaly). Nat Genet 2002;31:410-4.
Oosterwijk JC, Mansour S, van Noort G, Waterham HR, Hall CM, Hennekam RCM. Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: Highly variable expression of allelic phenotypes. J Med Genet 2003;40:937-41.
Ayan MS, Abdelrahman AA, Khanal N, Elsallabi OS, Birch NC. Case of acquired or pseudo-Pelger-Huët anomaly. Oxf Med Case Reports 2015;2015:248-50.
Shah SS, Parikh RS, Vaswani LP, Divkar R. Familial pelger-huet anomaly. Indian J Hematol Blood Transfus 2016;32(Suppl 1):347-50.
Erice JG, Pérez JM, Pericás FS. Homozygous form of the Pelger-Huët anomaly. Haematologica 1999;84:748.
Speeckaert MM, Verhelst C, Koch A, Speeckaert R, Lacquet F. Pelger-Huët anomaly: A critical review of the literature. Acta Haematologica 2009;121:202-6.
Constantino BT. Pelger-Huët anomaly – morphology, mechanism, and significance in the peripheral blood?film. Lab Med 2005;36:103-7.
Repo H, Vuopio P, Leirisalo M, Jansson SE, Kosunen TU. Impaired neutrophil chemotaxis in Pelger-Huët anomaly. Clin Exp Immunol 1979;36:326-33.
[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2], [Table 3]