Elena Lukina, MD, Hematology Research Center, Russian Academy of Medical Sciences, Moscow, discusses the importance of a timely diagnosis of Gaucher disease.

The diagnosis of Gaucher disease can present significant challenges for clinicians; some cases are very easy to diagnose while others remain more difficult. Despite the difficulties it remains essential to make the correct diagnosis early in the process since effective treatment is available. With timely and effective treatment, Lukina says patients with Gaucher disease can be “absolutely healthy people.”

If the proper therapy is started in a timely manner, patients can escape the severe complications of Gaucher disease.