Pelger-Huet Anomaly

What is Pelger-Huet anomaly?

Pelger-Huet anomaly (PHA) is a genetic disorder that affects neutrophils (a type of white blood cell). It happens when there’s a variation (change) in your DNA — specifically your lamin B receptor (LBR) gene, which plays a key role in neutrophil development.

Each neutrophil has a control center called a nucleus. It holds all the DNA needed for the cell to function and grow. Normally, the nucleus has three or more segments. But a Pelger-Huet nucleus only has two segments and looks kind of like a dumbbell. In very rare cases, Pelger-Huet neutrophils might have oval-shaped nuclei (the plural of nucleus).

If you were born with Pelger-Huet anomaly, your neutrophils still work the same to help you fight infections most of the time. That means it usually doesn’t cause health problems.

Pseudo Pelger-Huet anomaly (PPHA) is another version of this condition. Some people acquire it later in life. It can be a medication side effect or a sign of another condition, like an infection.

Symptoms of Pelger-Huet anomaly

Hereditary Pelger-Huet (HPA) anomaly usually doesn’t cause symptoms. If you have it, you probably won’t know until you need blood tests for something else.

But if you have pseudo Pelger-Huet anomaly (PPHA) you may develop symptoms related to those underlying conditions.

Pelger-Huet anomaly causes

The cause depends on the type of Pelger-Huet anomaly you have — hereditary or pseudo.

Hereditary Pelger-Huet anomaly

Hereditary Pelger-Huet anomaly happens when there’s a variation (change) in your lamin B receptor (LBR) gene. Your LBR gene gives your body instructions for making proteins that protect your neutrophils and give them shape. With Pelger-Huet anomaly, genetic changes disrupt this process, leading to barbell-shaped nuclei in the neutrophils.

Pseudo Pelger-Huet anomaly

You can develop pseudo Pelger-Huet anomaly due to:

• Bone marrow diseases like myelodysplastic syndrome and acute myeloid leukemia (AML)
• Certain infections like tick-borne diseases
• Immunosuppressants
• Radiation exposure

If you have PHA or PPHA, be sure you tell your provider all the medications you’re taking.

Risk factors

The main risk factor for Pelger-Huet anomaly is having a biological parent with the condition. If your parent has PHA, there’s a 50% chance they could pass it on to you.

Complications of this condition

Pelger-Huet anomaly doesn’t typically cause complications. While it changes the way your neutrophils look, it doesn’t change the way they work.

But if you have a disease that caused pseudo Pelger-Huet anomaly (like leukemia or myelodysplastic syndrome), you could develop complications from that underlying condition.

Talking to your healthcare provider can help you know what to expect.

How doctors diagnose Pelger-Huet anomaly disease

Healthcare providers use blood tests to diagnose Pelger-Huet anomaly. Specifically, they’ll run a peripheral blood smear. During this test, a pathologist or a hematologist will examine your white blood cells under a microscope.

If you have Pelger-Huet, your neutrophil nuclei will have an abnormal shape. A PHA neutrophil is round on each end and long and thin in the middle, like a dumbbell.

How is Pelger-Huet anomaly treated?

Pelger-Huet anomaly doesn’t usually require treatment because it’s unlikely to cause symptoms.

When should I see my healthcare provider?

If you have Pelger-Huet anomaly, you should tell your healthcare provider if you notice any new or troubling symptoms. They can help you determine whether your symptoms are related to PHA or PPHA.

Here are some questions you might want to ask them during your visit:

• Do I have hereditary or pseudo Pelger-Huet anomaly?
• Could I pass it on to my children?
• How often should I see you for visits?
• Are there signs I should watch for?

What can I expect if I have this condition?

Pelger-Huet anomaly itself isn’t painful, and it typically doesn’t change your life in any noticeable way. But if you have the condition (especially the acquired type), it could point to another health condition.

If your healthcare provider thinks you might have PHA or PPHA, they’ll run tests to confirm a diagnosis and/or rule out other possible conditions.