FILMED AT THE EUROPEAN HEMATOLOGY ASSOCIATION (EHA) ANNUAL MEETING, JUNE 2016
CAN YOU TELL US SOMETHING ABOUT GAUCHER DISEASE AND THE CONSEQUENCES OF NOT DIAGNOSING IT EARLY?
00:10 – Gaucher disease is a lysosomal disorder. Among the lysosomal disorders it’s probably the most frequent. It’s due to an enzyme deficiency, specifically glucocerebrosidase and that is responsible of accumulation of lipid material in macrophages. So, these macrophages loaded by this material are called Gaucher cells. And actually they may be present in different organs, spleen, bone marrow, lung, liver. So, actually at the end of the day, Gaucher disease is a haematological disorder because anaemia, thrombocytopenia, splenomegaly are common sign and symptoms. But we can say it is a multi-organ disease. And being a multi-organ disease, it may be affect in a significant way the quality of life of the patients, and particularly these complications may progress over life, compromising the survival. So, now, or since already more than 25 years, a recombinant enzyme treatment is available. So you give to the patient the enzyme which is deficient. If you do that in an early stage, you can actually keep a normal progression of life. So the main objective is to make people aware that Gaucher disease can be treated and can be kept under control. I have to mention of course, talking of Gaucher, that there are different forms of Gaucher. According to a common classification, there are three types of Gaucher. We are mainly involved as haematologists in Gaucher Type 1, which is also known as non-neuropathic form because the brain is not involved, whereas, at least it’s not severely involved, but we are learning more. The Type 2 and the Type 3 are the so called neuropathic form. They are in general diagnosed in childhood because are much more severe, with severe brain involvement.
03:02 - I have to mention that we are mainly focusing on Gaucher Type 1 because it’s the type of Gaucher that haematologists may encounter more, because is less severe than Type 2 and Type 3. Is also known as non-neuropathic form, because as I mentioned before, many organs may be involved, but not the brain, whereas Type 2 and Type 3, known as neuropathic forms, are much more severe and are usually diagnosed in childhood, especially Type 2 is very severe. Nevertheless, as more as we increase our knowledge regarding the pathophysiology of Gaucher, is becoming more and more clear that the clinical expression of the disease could be a continuum from very mild form to very severe forms. And even within the Type 1 Gaucher, we may have a wide spectrum of manifestation. What is common in Gaucher, in Type 1 Gaucher, is splenomegaly and thrombocytopenia. Almost 90% of patients present for the first time for splenomegaly and thrombocytopenia. That’s why we needed to have haematologists very much on board for this disease because such patient usually see sooner or later a haematologist.