Pelger-Huet anomaly is an inherited blood disorder caused by changes to the lamin B receptor gene, resulting in abnormal white blood cells. It can be identified through blood tests and is benign in heterozygous individuals but can cause medical problems in homozygous individuals. Treatment options depend on symptoms, and patients may also develop an acquired form of the condition.
Pelger-Huet anomaly is an unusual inherited blood disorder in which white blood cells known as neutrophils have an abnormal shape. It is caused by changes to the lamin B receptor gene, which alters the shape of the cell nucleus and the distribution of chromatin, the package of proteins and DNA that carries genetic material. A pathologist can identify the Pelger-Huet anomaly on a blood sample from a patient, as the neutrophils will have a very distinctive appearance. Testing may be recommended if one or both parents have the condition as it may be useful to know for future reference or may explain why a patient has health problems.
This condition is dominant and requires only one copy of the gene to be expressed. In people who are heterozygous for the trait, meaning they have inherited one defective and one normal gene, Pelger-Huet anomaly is benign. Neutrophil nuclei have a characteristic double-lobed appearance with chunks of clumped chromatin. It can cause some abnormalities in blood tests, which makes it important to know if the patient is being evaluated for the disease.
Homozygous individuals have both copies of the gene and as a result are more at risk for medical problems. The nucleus takes on a roughly circular shape, making it easy to differentiate from the other shape of the condition. Patients may develop skeletal abnormalities, seizures, and increased susceptibility to infections, and as a result may have a shorter life expectancy. In some cases, Pelger-Huet anomaly is fatal because it can be associated with other genetic problems.
Treatment options for patients with malignant Pelger-Huet anomaly may depend on the symptoms. They are typically based on keeping the person comfortable and dealing with problems such as seizures as they arise. Medications, for example, can help control seizures, reducing their frequency and severity to reduce the risk of injury. To protect patients from infection, certain precautions may need to be observed, and in some settings antibiotic prophylaxis may be recommended to ensure that patients do not become ill after exposure to potentially infectious organisms.
Patients can also develop a condition known as an acquired or pseudo Pelger-Huet anomaly, in which their cells change structure but do not have the true genetic condition. In these situations, previous blood tests will show normal white blood cells, but follow-ups will have cells with the characteristic differences associated with this condition. This can occur in combination with blood cancers and other medical disorders.
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