Eliglustat for Gaucher disease: How does it work? How is it consumed? Side effects? Is it safe? Efficacy? Research? Evidence?

Gaucher disease is a rare genetic disorder wherein the body lacks the ability to break down a specific kind of fat, which leads to accumulation thereof around various parts of the body, such as organs and bones. Eliglustat is one of the most common medications prescribed to help treat the disease by reducing production of the fat itself. 

The disease is an inherited lysosomal storage disorder which is caused by an enzyme deficiency, specifically a low level of glucocerebrosidase. This enzyme breaks down a fat with a similar name, glucocerebroside. When the body lacks production of the enzyme, the fat accumulates around and in cells of the spleen, liver, and bone marrow. This causes a variety of symptoms in patients, and can present itself in bizarre ways like: enlarged spleens and livers, increased bone pain and occurrence of fractures, fatigue, anemia and even increased bruising. 

Eliglustat, the medicine provided to patients, works in one way: substrate reduction. Basically, every enzyme reacts with a substrate to produce a product. Instead of increasing the enzyme which breaks down the fat, eliglustat works by reducing the enzyme responsible for producing the fat, which is known as glucosylceramide synthase (GS). By reducing GS, eliglustat allows for the body to stop accumulating fat in the cells, and thus relieving patients of their symptoms gradually. 

The medication is typically offered orally, in capsule form. The dosage is usually 84mg twice everyday, but it is subject to the patient's status on a specific test (CYP2D6) metabolizer status. The medication is provided with water, and typically consumed after eating a meal. 

However, as with any medicine, there are possible side effects. There are three factors affecting the safety for consumption of Eliglustat: Poor metabolisation of CYP2D6, liver impairment, or concomitant medications (medicines which have properties to impair metabolisation of CYP2D6 or CYP3A inhibitors). Basically, if someone has either of this problems, they are usually considered unfit for the medication. In patients with these symptoms, the medications results may present with some side effects including fatigues, headaches, nausea, diarrhea, and upper respiratory tract infections. 

The efficacy of this medication, is tried and tested and found true. For example, a study titled 'A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study of Eliglustat in Adults with Gaucher Disease Type 1' was conducted by Lancet in 2015. This study was crucial to find out the use of this medication; as its results showed that patients who consumed Eliglustat had lower spleen and liver volumes, improved hemoglobin levels and platelet counts, and even showed less symptoms over time.