Hemophilia pseudotumors: What you need to know
Fact-checked by Hemophilia is best known for symptoms such as prolonged bleeding after an injury, easy bruising, and spontaneous bleeding into joints or muscles. Over time, repeated bleeding can also lead to less common complications.
One of the rarest is the development of hemophilic pseudotumors, or benign masses caused by repeated bleeding into muscle or bone.
While advances in hemophilia treatment have reduced the incidence of pseudotumors, recognizing and managing them can help you and your care team reduce the risk of long-term complications.
What are hemophilic pseudotumors?
Hemophilic pseudotumors develop when blood from repeated bleeding episodes collects in muscle or bone tissues over time, forming a slowly expanding mass. Although these growths are benign, they can cause significant damage to surrounding structures, including bones and soft tissues.
This complication is extremely rare, affecting an estimated 1% to 2% of people with hemophilia, and is most often seen in those with severe disease or limited access to consistent hemophilia treatment.
The masses often arise in the large muscles of the thighs and pelvis and can also affect joints, most commonly the knees, ankles, and elbows.
Initially, hemophilic pseudotumors don’t tend to cause pain or obvious symptoms, so they may be difficult to notice for a long time. However, as the mass grows, it may begin to press on nearby tissues, such as nerves, skin, or bones. This may, in turn, lead to:
- bone fractures
- damage to the skin and soft tissue
- fistulas or abnormal connections between body parts
- infections
Pain may develop later if the mass begins to put pressure on nerves or cause fractures.
This delay in the onset of obvious symptoms is why you and your doctor should pay attention to any slowly growing lumps or swelling. A medical provider should promptly evaluate this type of mass even if it is not painful.
How doctors diagnose hemophilic pseudotumors
Doctors usually diagnose pseudotumors based on a combination of clinical history, imaging, and knowledge of the patient’s hemophilia.
Types of imaging that providers may use include:
- MRI scans, which can provide detailed information about the size and composition of the pseudotumor
- CT scans and plain radiographs, which may reveal bone damage
A potential issue that doctors may need to watch out for is that pseudotumors can be easily confused with aggressive tumors, especially in imaging.
Preventing pseudotumors
Prevention is key to reducing the risk of hemophilic pseudotumors.
The most important factor in preventing the masses is receiving timely treatment for the underlying condition, typically clotting factor replacement therapy. Other measures include prompt treatment of muscle and tissue bleeds and the prevention of injuries.
Collaboration between your doctor and a hemophilia treatment center can help ensure you receive the specialized care that may help prevent this complication.
Treating hemophilic pseudotumors
Managing pseudotumors requires a multidisciplinary approach with a team which may include:
- a hematologist
- an orthopedic surgeon
- a radiologist
- a rehabilitation specialist
Treatment options can range from more conservative to invasive, depending on the size and location of the pseudotumor, as well as on individual patient characteristics. With small superficial tumors, intensive clotting factor replacement therapy, immobilization of the affected area, and close monitoring can be sufficient. However, in larger pseudotumors or those that have not responded to conservative approaches, surgical removal may be necessary.
Although hemophilic pseudotumors are non-malignant, they can cause lasting complications if not identified and treated early. Prioritizing prevention, ensuring consistent access to clotting factor replacement therapy, and improving awareness among healthcare teams can all help limit the impact of hemophilic pseudotumors and support better long-term outcomes.
Hemophilia News Today 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.
