Gaucher disease and osteoporosis both affect the bones. Learn how GD impacts your bone health, including its possible connection with osteoporosis.

Traditional osteoporosis primarily affects older adults, while Gaucher disease (GD) is a rare metabolic disorder that you’re born with.

GD is caused by a genetic mutation inherited by one or both of your parents, resulting in the accumulation of certain lipids throughout the body. There are three types.

Bone symptoms, including pain and decreased mobility, are common in people with GD. At least 70% of people with GD type 1 experience bone disease.

Decreased bone mineral density — a key component of osteoporosis — may be first seen during childhood or adolescence. Treatment can help prevent joint collapse, secondary degenerative arthritis, and other related complications.

GD causes a deficit of an enzyme called glucocerebrosidase (GCase). This enzyme typically breaks down glucocerebroside, a type of glycolipid (a glucose-containing fatty chemical).

When GCase doesn’t break down these lipids, they accumulate in areas like your bone marrow, liver, and spleen. When glycolipids affect your bone marrow, they can impact bone density and lead to bone thinning and fractures.

Low GCase levels may also cause bone diseases like osteoporosis. Osteoporosis causes the bones to become weak and more susceptible to fracture.

People who have GD type 1 are more likely to develop osteoporosis. GD type 1 is also associated with the following bone-related complications:

  • Osteosclerosis: a disorder characterized by hardened bones and increased bone density
  • Bone crisis: an episode of severe bone pain resulting from reduced blood flow to your bones
  • Lytic lesions: areas where bone tissue has been destroyed
  • Avascular necrosis: a disease characterized by bone degeneration and deformities
  • Acute osteomyelitis: a type of bone infection that’s considered rare

Some of the most common GD symptoms include:

GD type 1 is the most common in the United States and other Western countries, making up an estimated 90% of all cases. GD type 3 is the most common worldwide.

Bone diseases in GD type 1 can result in bone pain, fractures from osteoporosis, and skeletal deformities. Brain development in this type is typical, but it’s possible to experience fatigue.

Type 1 can cause liver and spleen enlargement and, in rare cases, affect your kidneys and lungs. It’s considered “non-neuronopathic” — it doesn’t affect your spinal cord or brain, the two key central nervous system components.

GD type 2 is the least common of the three subtypes and primarily affects young children. Also called acute neuronopathic Gaucher disease, this form causes significant — often fatal — brain damage.

GD type 3 involves a combination of symptoms seen in types 1 and 2. It’s slightly more severe than type 1 but less severe than type 2.

GD type 1 — the subtype associated with osteoporosis — is considered mild and is treatable with medications.

Enzyme replacement therapy (ERT) helps treat GCase enzyme deficiencies so that your body can break down harmful lipids that may accumulate in your bones and organs. ERT is given via infusions every 2 weeks.

Another possible option is an oral treatment called substrate reduction therapy (SRT). SRT decreases the overall amount of GCase your body produces.

Another goal for bone symptoms associated with GD is to help increase mobility while reducing pain and fractures.

Consult with a healthcare professional about dietary changes and possible supplements — such as vitamin D or calcium — that may help prevent further bone loss and related fractures.

Bone involvement is primarily seen in GD type 1 but may also be experienced in type 3. Type 1 has the longest life expectancy and is highly treatable.

Type 3 emerges during the first decade of life. Type 3 may cause a shortened lifespan, but with treatment, it’s possible to live through your 50s.

Type 2 — the least common subtype — primarily affects infants and toddlers. Type 2 is often fatal within the first 2 years of diagnosis. There are currently no treatment options available.

While GD is still considered rare, it affects an estimated 1 in every 40,000 live births. Researchers are continuing to investigate the genetic component of this condition as well as possible treatments.

Consider talking with your clinician about enrolling in a clinical trial if you have GD-related osteoporosis. Clinical trials contribute to the body of research in this field and may allow you to access lower-cost or no-cost treatment.

GD is an inherited disorder that causes a buildup of GCase in your body. If left untreated, this buildup can lead to bone diseases like osteoporosis and other complications involving your bone marrow, liver, and spleen.

Whether you have a new diagnosis or have a previous diagnosis and are experiencing bone-related symptoms, consult with a healthcare professional about treatment options. They may also recommend dietary modifications, supplements, and lifestyle changes for additional support.