Splenectomy for Gaucher disease

Last updated April 23, 2025, by Marisa Wexler, MS
Fact-checked by Ines Martins, PhD

A splenectomy, which is the surgical removal of the spleen, may be used in rare cases as a surgical treatment for Gaucher disease, usually in patients who haven’t responded well to standard therapies.

Gaucher disease is a rare genetic disorder wherein fatty molecules build up to harmful levels in certain cells, which accumulate and cause damage to multiple organs.

One of the most affected organs is the spleen, which results in common Gaucher disease complications such as spleen enlargement, low blood cell counts, and bleeding issues.

While a splenectomy may help manage these issues, the procedure is associated with certain risks, including an increased likelihood of long-term effects such as lung or bone complications.

A splenectomy is rarely used now and is typically reserved for people having severe spleen and blood complications that aren’t adequately managed with existing medications.

What is a splenectomy?

The spleen is a small organ in the abdomen that’s important for regulating immune system function and for filtering blood by removing old or damaged cells.

A splenectomy is a surgical procedure in which the spleen is removed. While the spleen has important roles in maintaining health, it’s not considered vital for survival, and a person can live without it.

A splenectomy for Gaucher disease may involve:

• a total splenectomy, where the entire spleen is removed
• a partial splenectomy where only part of the spleen is removed.

The procedure can be performed as an open surgery, which involves making a large incision in the abdomen, or as a laparoscopic surgery, which is a less invasive approach where the surgeon inserts a camera and surgical tools through small incisions to perform the operation.

How can a splenectomy help with Gaucher disease?

A common symptoms of Gaucher disease is an enlarged spleen, called a splenomegaly, which can reach volumes up to 60 times greater than normal in untreated adults.

This enlargement often causes abdominal discomfort and pain, but more severe cases may result in serious complications, such as:

• death of spleen tissue due to loss of blood supply
• a ruptured spleen, which causes internal bleeding and is a medical emergency
• pressure on nearby organs and blood vessels that can interfere with their function.

Many people with Gaucher disease also have hypersplenism, a condition where  the spleen becomes overactive. While a healthy spleen helps filter out old or damaged blood cells, an overactive spleen begins to destroy too many blood cells — including healthy ones — leading to a deficit of certain blood cells.

Hypersplenism in Gaucher disease can contribute to blood problems including:

• anemia, or low levels of red blood cells, which can cause fatigue and weakness
• thrombocytopenia, or low platelet counts, which can lead to easy bruising and bleeding.

Removing the spleen via splenectomy can reduce abdominal pain and discomfort, and prevent more serious spleen complications from developing. Other benefits of spleen removal in Gaucher patients include stopping hypersplenism and increasing red blood cell and platelet levels.

Who should receive a splenectomy?

Before the development of therapies that address the disease’s underlying cause, splenectomy was a common Gaucher disease treatment. However, with the approval of enzyme replacement therapy and substrate reduction therapy, the procedure is now rarely used.

Currently, splenectomy is considered an alternative treatment only for those who continue to have serious disease complications despite treatment, or when standard medications aren’t available.

Situations where a splenectomy may still be considered include:

• serious thrombocytopenia that puts the patient at high risk of bleeding problems
• severe, uncontrolled abdominal pain
• massively enlarged spleens with substantial areas of fibrosis (tissue scarring)
• spleen rupture or death of spleen tissue
• severe compression of nearby organs.

Potential side effects or complications

Splenectomy is a major surgical procedure, and as with any surgery, it carries certain general risks, such as:

• bleeding
• infection
• damage to the surrounding organs
• allergic reaction to anesthesia.

However, Gaucher disease comes with specific risk factors that can increase the potential complications of splenectomy. Specific risks of splenectomy in Gaucher disease include:

• increased risk of bone disease
• higher risk of lung disease.

Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.