GHP July 2017

20 GHP / July 2017 NEWS , Pharmaceuticals, Inc., has presented IN-FOCUS: new data on Familial Chylomicronaemia Syndrome (FCS) revealing how psychosocial and cognitive symptoms translate into reduced quality of life and an impaired ability to work for patients. While acute symptoms of this disorder are well-documented, until now there has only been minimal research into the holistic burden of FCS and its far-reaching impact on quality of life. (1) 1612GH13 NewData Reveals Hidden Burden of Familial Chylomicronaemia Syndrome (FCS) IN-FOCUS data presented at HEARTUK, explores the severe impact of rare genetic disease, forwhich there is currently no treatment. FCS affects approximately one to two people in a million in Europe. (2) It is characterised by a dysfunction of lipoprotein lipase (LPL), an enzyme that breaks down chylomicrons: large lipoprotein particles that carry triglycerides in the blood shortly after the ingestion of fat. (3) Thus, people with FCS have very high levels of triglycerides in their blood, which can cause it to appear milky in colour. (3) FCS can cause severe abdominal pain and has the potential to lead to acute pancreatitis which can be fatal or cause permanent pancreatic damage. (3) There is currently no treatment available for FCS and sufferers must resort to adopting severely restricted diets. (4) The data reveal that the emotional burden of FCS is substantial. 64% of people living with FCS consider the disease to have adversely affected their lives over the past 12 months; (1) 57% feel that their disease is a burden to those around them.1 64% reported that the disease had affected their stress/anxiety levels, 54% said it affected their mental ability, and 50% said it affected their quality of sleep. (1) Patients reported feeling ‘sad, down, blue or depressed’ about their condition on a weekly basis. (1) Anxiety, fear, or worry about having to plan what or how much they could eat also troubled them monthly. (1) The study highlighted cognitive symptoms of FCS that had previously been relatively undocumented. (1)