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A 32 -year-old female patien t is seen in the hematology clinic for evaluation after her 6-year-old son was found to have abnormal blood cells. The pediatrician advised her to see a hematologist because her son may have a fami lial disorder. Nei ther the mother nor the son had any health problems. The patien t's physical exam is normal. Labora-tory studies show a leukocyte count of 9,600/JLL, hemoglobin of 1 LJ.3 g/d l, and platelet cou nt of 2 59,000/JLL. The peripheral smear is shown below.
What is the most likely diagnosis?
- Shwachman-Diamond syndrome
- Glanzmann thrombasthenia
- Familial Pelger-Huet anomaly
- Bernard-Soulier syndrome
Medicine
C. The peripheral blood smear depicts neutrophils with bilobed, unilobed, or dumb-bell-shaped nuclei with dense chromatin, characteristic of the Pelger-Huet anomaly. Subsequent review of the son's blood smear revealed similar findings. Thus, a diagnosis of familial Pelger-Huet anomaly was established. Familial Pelger-Huet anomaly is a benign leukocyte anomaly that is inherited as an auto-somal dominant trait. Patients with this disorder are asymptomatic, as the neutrophils have normal function. It is important to differentiate this familial condition from acquired Pelger-Huet anomaly associated with myelodysplastic syndromes (MDS). In the familial disorder, 80% to 90% of the neutro-phils are abnormal, whereas in MDS only a minority of cells is usually evident. The other listed condi-tions are inherited conditions that primarily affect platelet function and are not associated with Pelger-Huet anomaly.
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