The signs and symptoms of Gaucher disease can arise in every part of the body, including the brain, bones, joints, and other organs. But many of the most common symptoms of Gaucher disease involve the blood. Without treatment, Gaucher disease can affect how your blood cells function and cause blood disorders.
To better understand the hematologic (blood) symptoms associated with Gaucher disease, we spoke with Neal Weinreb, MD, FACP. He has four decades of experience as a hematologist and medical oncologist. Dr. Weinreb focuses his attention on research and management of people with lysosomal storage disorders (LSD’s) such as Gaucher disease. He also serves as the regional coordinator and chair of the International Collaborative Gaucher Group.
Blood Cells and Their Functions
To understand how Gaucher disease alters the blood, it’s important to know how blood cells function in the body. Blood consists of plasma, a liquid that transports blood cells throughout the body. There are three types of blood cells found in plasma:
- Red blood cells (also called erythrocytes or RBCs): RBCs make up about 45% of your blood. They carry oxygen to the body and bring carbon dioxide to the lungs for exhaling.
- White blood cells (also called leukocytes): These cells protect the body from infection and account for about 1% of your blood.
- Platelets (also called thrombocytes): These small cell fragments help with blood clotting (coagulation). They gather at the injury site and cover the wound so that a clot can form to stop the bleeding.
The presence of Gaucher cells mostly impacts RBCs and platelets. The disease may cause blood disorders related to low counts of those cells.
Untreated Gaucher disease can also affect white blood cells. But it rarely makes patients more prone to infection. “It’s been recorded but it’s quite unusual,” Dr. Weinreb notes. “We don’t speak much about the white cells and Gaucher disease. Instead, we concentrate on the red blood cells and platelets.”
How Gaucher Disease Causes Blood Disorders
In people with Gaucher disease, fatty Gaucher cells build up in certain parts of the body. As a result of this buildup, organs may not function the way they should.
Two areas often affected by Gaucher cells are the spleen and bone marrow. When these organs don’t work properly, they can affect your body’s blood cell count.
Effects of an enlarged spleen
One of the spleen’s jobs is to get rid of older RBCs. But when the spleen gets too large, it doesn’t only destroy older RBCs. It also attacks young RBCs and platelets, decreasing the number of functioning cells. The change to the spleen can result in both low platelets (thrombocytopenia) and low RBCs (anemia).
As the spleen fills with Gaucher cells, the cells provoke a reaction causing the spleen to enlarge—a condition known as splenomegaly. Dr. Weinreb adds that as the spleen gets larger, it tends to pool a lot of blood and take it out of circulation. Platelets and RBCs become trapped within the spleen where they can’t function.
Impact of Gaucher cells in bone marrow
Bone marrow is the spongy tissue inside your bones. One function of bone marrow is to make blood cells, including RBCs and platelets. But when Gaucher cells invade bone marrow, its production of blood cells tends to slow.
Reduced blood cell production results in fewer RBCs and platelets throughout the body. That slowdown can be especially detrimental when an enlarged spleen also reduces the amount of functioning blood cells in the body.
“It’s a double-edge problem,” Dr. Weinreb says. “These two factors working in combination increase the likelihood of a non-treated patient with Gaucher disease developing anemia and thrombocytopenia.”
Signs and Symptoms of Blood Disorders Related to Gaucher Disease
When left untreated, Gaucher cells can contribute to blood disorders in patients with any type of Gaucher disease. Blood disorders cause many of the symptoms of Gaucher disease.
The two most common blood disorders experienced by people with Gaucher disease are:
Thrombocytopenia (low platelet count)
According to the National Heart, Lung, and Blood Institute, platelet counts for healthy adults fall within the range of 150,000 to 450,000 platelets per microliter of blood. A diagnosis of thrombocytopenia means your blood’s platelet count is low (under 150,000). Your risk for bleeding (both internally and externally) increases as your platelet count decreases.
Common signs and symptoms of thrombocytopenia include:
- Abnormal vaginal bleeding
- Blood in urine or stools
- Easy or excessive bruising (called purpura)
- Excessive gum bleeding while brushing your teeth or during dental work
- Prolonged bleeding from cuts
- Rash-like red or purple dots on the skin (called petechiae)
Dr. Weinreb explains that many people can function well even when the count is between 50,000 and 100,000 platelets per microliter of blood. But they may tend to bruise easily and should expect bleeding issues during surgery or dental work.
With a large spleen, it’s not uncommon to have a platelet count between 20,000 and 50,000 platelets per microliter of blood. In that range, you may experience spontaneous or severe nosebleeds and bruise with very little trauma. Having a severely low platelet count (less than 20,000 platelets per microliter of blood) is unusual for people with Gaucher disease.
Anemia (low red blood cell count)
When your RBC count is low, your body is not getting enough oxygen-rich blood. The resulting symptoms may include:
- Extreme fatigue
- Rapid heartbeat
- Shortness of breath
People with Gaucher are more likely to have a low platelet count than anemia. It’s possible to develop just one disorder or both.
How common are anemia and low platelets in people with Gaucher?
For newly diagnosed people who haven’t had treatment for Gaucher disease, anemia and thrombocytopenia are common. Studies conducted using the Gaucher registry found that 40% to 50% of adults with Gaucher are anemic at the time of diagnosis. Almost 90% of untreated adults have a decreased platelet count.
“Keep in mind that we’re talking about newly diagnosed adults who have never been on treatment,” Dr. Weinreb says. “And it’s different for children. They tend to have less thrombocytopenia and anemia than adults mainly because their bone marrow is more vigorous in blood production.” A child’s natural ability to make more blood helps them to overcome the shortage in blood cells caused by an enlarged spleen.
Effects of Gaucher Disease Treatment on Blood Disorders
“If you successfully reduce the amount of stored Gaucher lipids and decrease the spleen size by a significant amount,” Dr. Weinreb explains, “then the symptoms of anemia and low platelet count will become less severe or even disappear completely.”
Blood disorder symptoms may take a while to go away. Platelet counts often take more time to normalize than RBCs, especially if the spleen is very large.
“When patients stay on their treatment and go for their infusions or take their medication the way they’re supposed to,” Dr. Weinreb says, “most of the blood manifestations tend to go away within one to two years.” He notes that less than 5% of people with Gaucher disease may have persistent anemia even after a couple of years of treatment.
What if You Have Symptoms of Low Platelets or Anemia After Gaucher Disease Treatment?
If your disease is well-controlled by treatment and you develop anemia or an unexpected drop in platelet count, don’t ignore it. The symptoms may be related to Gaucher. But they could also be a sign of a separate condition like an ulcer, vitamin deficiency, gynecologic issue, or cancer.
“People with Gaucher disease don’t live in a vacuum, and they can develop other conditions,” Dr. Weinreb says. “Your doctor really needs to perform a methodical and careful evaluation. There could be an unrelated cause that explains the change in your condition.”
How the National Gaucher Foundation Can Help
If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.
- National Institutes of Health: Hemorrhagic Aspects of Gaucher Disease— https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222428/
- American Society of Hematology: Blood Basics—https://www.hematology.org/education/patients/blood-basics
- National Heart, Lung, and Blood Institute: Thrombocytopenia—https://www.nhlbi.nih.gov/health-topics/thrombocytopenia
- National Heart, Lung, and Blood Institute: Anemia—https://www.nhlbi.nih.gov/health-topics/anemia