Common Type 1 Gaucher's Disease Symptoms

Symptoms Can Range from Mild to Severe

Type 1 Gaucher’s disease is the mildest form of the most common genetically based metabolic disease affecting Jewish people of Ashkenazi descent or, put another way, Jews whose relatives came from Northern, Eastern, and Central Europe. The symptoms associated with this form of the disorder can vary widely from patient to patient. It’s possible for you to be diagnosed with the disease and not have any obvious symptoms.

Though the course of the disease is so variable, here we’ll outline the most common symptoms of type 1 Gaucher’s disease.

Gaucher’s Disease Demographics
Type 1 Gaucher’s disease makes up about 90% of all reported cases of the disease. It can also be called the “adult form” of the disease because it is typically diagnosed in patients who are, on average, 30 years old, though the age of onset can also vary widely. This, however, is somewhat of a misnomer because the genetic mutation that actually causes the type 1 form is present from the time you’re conceived.

The disease also occurs equally in men and women, and can affect anyone regardless of ethnicity.

What You May Experience with Type 1 Gaucher’s Disease
Symptoms of the disease occur when you have too much build up of fatty materials, or “lipids,” in your body due to a genetic defect that causes your body to have difficulty breaking down fatty materials. Lipids can frequently accumulate in your bone marrow, spleen, liver, and lungs.

Common symptoms of type 1 Gaucher’s disease include:

  • Anemia (when your body doesn’t produce enough healthy red blood cells)
  • Fatigue
  • Easy bleeding and bruising resulting from a decrease in platelets
  • Nosebleeds (also called epistaxis)
  • Decrease in bone density (osteoporosis)
  • Bone pain (often called “bone crises”) and bone fractures, which may lead to damage and pain in your hips and shoulders
  • Enlarged spleen or liver, which may cause a swollen stomach

Be sure to let you doctor know if you’re experiencing any of these symptoms—whether they’re mild or more severe. Based on your symptoms, your doctor should be able to identify which type 1 Gaucher’s disease treatments are best for you.

Updated on: 11/13/12
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Type 1 Gaucher's Diagnosis and Screening