How Is Myelofibrosis Diagnosed?

Medically Reviewed by Laura J. Martin, MD on January 29, 2023
2 min read

If your doctor thinks you may have myelofibrosis, several things will help with a diagnosis. There isn't just one test to check for the disease. Because every case is different, a physical exam, blood tests, and other tests are all key to help figure out if you have the disease.

Here's what your doctor will likely suggest.

Even if you don’t have symptoms, your doctor may notice signs of the illness during a physical exam. They’ll start with your medical history, which means they’ll ask you what health problems you have now or had in the past. You'll talk about any symptoms you may have. But keep in mind, not everyone who has myelofibrosis will notice any physical changes.

They’ll do things like check your blood pressure and pulse and feel your neck to see if your lymph nodes are swollen. They may even poke you in the belly -- if you feel fullness or pain there, it could mean your spleen is enlarged. They’ll test a sample of your blood for signs of anemia. They may ask you questions about weight loss or fatigue.

A complete blood count (CBC) can show if your red blood cell levels are below normal. This is common in most people with myelofibrosis. Your white blood cell and platelet counts may be off, too. Usually, they are higher than average if you have myelofibrosis, but sometimes they can be lower.

Your doctor may want to do other blood tests. These will check the levels of substances like uric acid, lactate dehydrogenase, and bilirubin. High levels may also be a sign of myelofibrosis.

Your doctor will likely perform two bone marrow tests. They can do them at the same time in their office or in the hospital. They include:

  • Bone marrow aspiration: The doctor uses a needle to remove a small sample of your bone marrow.
  • Bone marrow biopsy: With a different needle, they remove a tiny piece of bone filled with marrow. They’ll probably take it from your hip.

The numbers and types of cells in the marrow will help them decide if you have myelofibrosis. The info these tests provide can also help rule out other bone marrow problems.

Doctors in a lab will check samples of your blood or bone marrow to see if they can spot changes in the genes. They may call them mutations. They’re often seen with myelofibrosis.

Your doctor may suggest an ultrasound test, magnetic resonance imaging (MRI), or X-rays. An ultrasound can see if your spleen is enlarged. An MRI can look for changes in bone marrow that can be signs of myelofibrosis. X-rays can show changes in bone density that may be a sign of the disease.