LPLD Alliance represent patients living with Familial Lipoprotein Lipase Deficiency. In this guest blog, Jill Prawer tells talks about the condition, and what LPLD Alliance is doing for patients.
Imagine what life is like if your primary relationship with food is distrust. That eating the ‘wrong’ thing can leave you in excruciating pain, exhausted, fearful and unable to think clearly. And that it’s often difficult to identify what’s ‘right’ and what’s ‘wrong’.
Imagine living like this in isolation – never meeting anyone experiencing the same thing.
Unfortunately this can be the experience for those with the ultra-rare condition Lipoprotein LipaseDeficiency (Familial Chylomicronemia Syndrome). People with this genetic condition don’t producelipoprotein lipase, the enzyme which breaks down fat. Instead the fat stays in the bloodstreamgiving it a milky-white appearance which is the condition’s main identifying clinical symptom.
Currently there is no effective treatment for LPLD other than limiting how much fat is eaten. People with the condition are advised to eat between 10g and 20g fat daily and to drink no alcohol. If fat is eaten – and this is fat from any source - patients experience symptoms including abdominalpain which can be severe, brain-fog, fatigue (like after eating a large meal, but permanently), jointand back pain, memory problems, yellow spots (xanthoma) and most severe and potentially life-threatening, pancreatitis.
Repeated episodes of pancreatitis make patients more prone to developing diabetes type 2 whichmeans further restrictions to the diet as high blood sugar is turned to fat by the body. For women,pregnancy is risky as fat levels rise automatically increasing the possibility of pancreatitis.
Living successfully with the condition means managing symptoms. It means never feeling confident about the food being eaten unless its ingredients and how it was prepared have been checked beforehand. It means watching others feast while picking over an undressed salad. It means makingphone calls and sending emails in advance to check catering will be suitable every time food is eatenaway from home (or providing your own). It means that travelling abroad is difficult.
LPLD Alliance was set up to support patients with this ultra-rare condition (it occurs in 1 to 2 people per million) and was given its charity number in March of this year. Our aim is to build a supportive community of patients to break this isolation. We aim to raise awareness of the condition and to advocate forexcellence in care and access to new medicines. We want to enable people with the condition to beable to participate more fully in life and reduce their symptoms.
LPLD Alliance was founded by Jill Prawer who was diagnosed with the condition aged two. She instigated the creation of the LPLD community on RareConnect (EURORDIS) in 2012 and became a Fellow of EUPATI (the European Patients Academy on Therapeutic Innovation) having successfully completed the course on medicines development in February 2016. The Board of trustees bring a range of relevant experience to the charity.
LPLD Alliance has represented patients at NICE, has consulted on a quality of life questionnaire aiming to capture the burden of disease, and will be arranging patient meetings in collaboration with hospital consultants.If you have a diagnosis of LPLD, or know someone who does, please get in touch to let us know how we can best offer support. You can find us at www.lpldalliance.org or on Facebook at LPLD Alliance.