Pelger–Huet anomaly

Pelger–Huet anomaly is a rare, inherited condition characterized by the presence of white blood cells, specifically neutrophils, with unusual nuclear shapes. It was first described by Dutch physicians F.A. Pelger and J.C. Huet in 1928.

Overview

Pelger–Huet anomaly is an autosomal dominant disorder, which means that an individual only needs to inherit one copy of the abnormal gene for the condition to develop. The condition is benign and does not affect the individual's lifespan or health. However, it can be mistaken for more serious conditions, such as myelodysplastic syndrome, due to the abnormal appearance of the neutrophils.

Symptoms

Individuals with Pelger–Huet anomaly typically do not exhibit any symptoms. The condition is often discovered during a routine blood test, when the unusual shape of the neutrophils is noticed. In some cases, individuals may have a slightly increased risk of developing infections.

Diagnosis

Diagnosis of Pelger–Huet anomaly is based on the observation of characteristic changes in the neutrophils during a blood test. These changes include a reduction in the number of nuclear lobes and an increase in the amount of chromatin, the material that makes up chromosomes. Genetic testing can confirm the diagnosis.

Treatment

As Pelger–Huet anomaly does not cause any symptoms or health problems, no treatment is necessary. However, it is important for individuals with the condition to inform their healthcare providers, as the abnormal appearance of the neutrophils can lead to misdiagnosis of other conditions.

See also

• Neutrophil
• Autosomal dominant
• Myelodysplastic syndrome
• Blood test
• Chromatin