Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

October is Gaucher Disease Awareness Month. In recognition of this special time, the disease that we will be learning about today is:

Gaucher Disease

What is Gaucher Disease?

• Gaucher disease is a genetic disorder which is defined by the accumulation of the sphingolipid glucocerebroside in various tissues, cells, and certain organs
  • White blood cells (particularly macrophages), the brain, spleen, liver, lungs, kidneys, and bone marrow may be affected
• This mechanism is the result of a genetic deficiency in the enzyme glucocerebrosidase, which normally acts on and processes glucocerebroside
• Gaucher disease is considered a form of lysosomal storage disease and is the most common disease of this group
• The incidence rate is from 1 in 20,000 to 1 in 40,000 births
• There are three different types of Gaucher disease, with type I being the most common and least severe
• The disease is named after French physician Philippe Gaucher, who first described it in 1882

How Do You Get It?

• Gaucher disease is a genetic disorder inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutation to pass along the disease, with a 25% chance of doing so
• The disease is linked to mutations of the GBA gene. A total of around 80 mutations have been identified that can cause the disease
  • Each type of Gaucher is associated with specific mutations
• Risk factors for the disease include Ashkenazi Jewish ancestry, with a carrier rate in this group of 8.9% and an incidence rate of 1 in 450 births

What Are the Symptoms?

• Symptoms of Gaucher disease include:
  • Enlarged spleen and liver, typically without accompanying pain
  • Pancytopenia, deficiency in counts of practically all types of blood cells
  • Yellow-brown skin pigment
  • Cirrhosis (rare)
  • Parkinson’s disease is more common in Gaucher patients
  • Severe bone and joint pain, especially in the knees and hips
• Type I specific symptoms include:
  • Cognitive and smell impairments
• Type II specific symptoms include:
  • Apnea, intellectual disability, convulsions, hypertonia
• Type III specific symptoms include:
  • Dementia, ocular muscle apraxia, convulsions, myoclonus (muscle twitching)

How Is It Treated?

• Enzyme replacement therapy can effectively treat many symptoms of type I and type III Gaucher disease, such as skeletal abnormalities and enlarged spleen/liver
  • Optimal dose size and frequency is unclear
  • This treatment should be continued for life
  • Examples include taliglucerase alfa, velaglucerase, and imiglucerase
• Miglustat is approved in Europe for the disease and is a form of substrate reduction therapy, preventing the excess glucocerebroside from forming
• Other treatments: Eliglustat
• Outcomes vary depending on disease type and access to treatment

Where Can I Learn More???

• Check out our cornerstone on the disease here.
• Learn more about this illness and Gaucher Disease Awareness Month from the National Gaucher Foundation.