“Familial Chylomicronemia Syndrome (FCS) is a rare genetic disease which can have devastating effects on its victims,” says Dr. Seth Baum, a preventative cardiologist who specialized in FCS. “The creation of the FCS Foundation will provide patients, caregivers, and healthcare providers the opportunity to identify and support best treatments, disseminate meaningful lifestyle management tools, and develop more accurate diagnostic systems for individuals going forward.”
The FCS Foundation was established by Lindsey Sutton and Melissa Goetz, two disease advocates directly impacted by FCS. In addition, The FCS Foundation board of directors includes additional leaders from the FCS patient community.
“I have spoken to so many people affected by FCS about the lack of information and resources to support patients and to help clinicians deliver the best quality care,” Sutton says. “Our mission with The FCS Foundation is to make sure that all people have access to the information and support they need to get a proper diagnosis and manage FCS more effectively.”
FCS is a genetic condition that causes a buildup of fats in the blood that can increase the risk of severe abdominal pain and potentially fatal attacks of pancreatitis. It is also sometimes known as lipoprotein lipase deficiency (LPLD), Fredrickson Type 1 hyperlipoproteinemia and familial hypertriglyceridemia. There are currently no FDA approved therapies for the treatment of FCS. Most patients take steps to reduce their risk of pancreatitis through lifestyle modifications including strictly limiting fat intake.
“Our mission with The FCS Foundation is to make sure that all people have access to the information and support they need to get a proper diagnosis and manage FCS more effectively.”
“I was overwhelmed when my daughter was diagnosed with FCS,” Goetz says. “I found that many physicians were not familiar with the disease and there were very limited resources available. Through The FCS Foundation we want to expand the information and services available for FCS families to help them take the right steps to protect their health and to know that there is support available.”
Our Unmet Medical Needs
FCS occurs in about 1 in 1 million people and the genetic disorder causes the body to not be able to break down certain fats correctly. This disease frequently leads to symptoms such as pancreatitis — a very serious condition that causes inflammation of the pancreas and can lead to death – and fatty deposits in the skin.
A new study, led by professor of medicine Daniel Gaudet, MD, PhD, at the University of Montreal has found that 67% of patients with FCS have experienced acute pancreatitis (AP) that required a hospital visit. Clinicians also reported that 6% of their patients died as a result of their pancreatitis. The results indicate that FCS presents a significant risk of severe and life threatening attacks of pancreatitis and early death, even among patients who are in treatment to manage the condition.