Symptoms

Symptoms of Gaucher disease often mimic other diseases, and many people are misdiagnosed or assume they have already been tested. If you have been diagnosed with Gaucher disease type 1, treatment approaches are available to manage the disease, including oral medicine.

Recognize the signs and symptoms of Gaucher disease type 1

Gaucher disease is a lifelong condition with diverse symptoms. The age of onset and severity of disease are unpredictable due to Gaucher's progressive course.

Symptoms are diverse, unpredictable, and variable

Onset may occur at any age

Onset may occur at any age

Some patients may be asymptomatic while others may experience one or more symptoms

Some patients may be asymptomatic while others may experience one or more symptoms

The nature and severity of some symptoms may fluctuate as disease progresses

The nature and severity of some symptoms may fluctuate as disease progresses

Know the signs and symptoms

If you or a loved one are experiencing any of these signs and symptoms, it could be Gaucher disease. It’s important you talk to your doctor about getting tested as soon as possible.

  • The spleen can swell to 15x its normal size or more. Normal spleen function is disrupted, potentially leading to anemia, fatigue, easy bleeding, and frequent infections. Physicians may refer to this as splenomegaly
  • The liver can enlarge up to 2.5x its normal size leading to fibrosis (scarring) of the liver. Physicians may refer to this as hepatomegaly.
  • People feel bloated, and look overweight or pregnant, because their abdomen protrudes.

Accumulation of Gaucher cells in the bones and spleen can interfere with the production of blood cells:

  • Reduction of red blood cells—may lead to anemia and fatigue
  • Reducing blood clotting cells (platelets)—which makes it harder for your blood to clot and may result in easy bruising and bleeding

Gaucher cells can build up in bone marrow, crowding out the cells that build up bone mass. This makes it hard for essential bone minerals, such as calcium and phosphorus, to strengthen bones and keep them in good shape. With Gaucher disease, bones may become thinner and weaker than usual, causing pain, and may break or fracture easily.

94% of patients with Gaucher disease type 1 have clinical or radiologic evidence of bone disease, including:

  • Reduction of red blood cells - may lead to anemia and fatigue
  • Spontaneous fractures
  • Bone infarction (avascular necrosis): Loss of blood supply and oxygen causes bone tissue to deteriorate and die
  • Osteopenia and osteoporosis: Loss of calcium and mineral content can weaken bones, increasing your risk for a bone to break.

Your bones may be affected even if you are not feeling bone pain.

Early diagnosis and timely treatment remain important, as damage caused by Gaucher disease may be irreversible. Talk to your doctor; it's just a simple blood test.

Consequences of delayed diagnosis and
treatment

Ignoring the signs and symptoms of Gaucher disease can lead to a diagnostic delay of up to 10 years.
Gaucher disease is progressive and may lead to:

  • Continued spleen and liver enlargement
  • Increased bleeding
  • Bone crisis and fractures
  • Delayed growth and failure to grow in children
  • Reduced quality of life
  • Shortened life and increased cancer risk
Mikhail, Russia, Gaucher Disease Type 1 Patient

Staying on track

CareConnectPSS® provides education and support for patients and their families affected by Gaucher disease.

Learn more about this offering

It’s easy to get tested for Gaucher disease

Early diagnosis and timely treatment of Gaucher disease type 1 is important to prevent certain complications.

Get tested today