Rare Disease Report

Benefits of Patient Connectivity in Familial Chylomicronemia Syndrome

SEPTEMBER 03, 2018
David J. Davidson, MD, NorthShore Medical Group
Patients with serious illnesses, including many rare diseases, often report feelings of isolation and lack of support that can be devastating. In many cases, this can affect their ability and willingness to take steps to manage their health and comply with treatment. But efforts to quantify the benefits of patient connectivity are often challenges in rare disease states.

Familial chylomicronemia syndrome (FCS) is a rare genetic lipid disorder characterized by extremely high triglycerides that can cause painful, debilitating, and potentially fatal attacks of acute pancreatitis. It affects an estimated 3,000 to 5,000 individuals worldwide. There is currently no approved treatment available. Given its rarity and the fact that symptoms may be associated with other more common diseases and conditions, delayed diagnosis is common. In addition, opportunities for patients to connect with other patients either online or in person have historically been extremely limited, though there is now a growing FCS patient advocacy community. Lack of awareness and connectivity can, in turn, promote feelings of isolation and inhibit efforts to share information and support.

Together with the team at Akcea Therapeutics, we recently worked to collect a range of information from those living with FCS about the benefits and impact of patient-to-patient connectivity. The effort known as the CONNECT study provided many first-time findings that were published in July 2018 in the peer-reviewed journal Expert Opinion on Orphan Drugs.

In the survey, both FCS patients and their caregivers in the United States and Canada were asked to respond to a series of questions related to their level of connectivity with FCS-focused organizations and the perceived benefits that these associations provide. A total of 50 respondents self-identified as either actively or passively connected or not connected to any patient organizations or communities.

Results showed conclusively that any level of connection with other patients provided a number of positive benefits to patients who responded. Among the findings, connected respondents reported a significant increase in positive perceptions of their overall health, disease outlook, and emotional well-being after connecting with other patients compared to the period before making these connections.

Patients who were actively connected (regularly taking part in ongoing conversations with one or more groups) were also 3 times as likely to report “high” or “extremely high” motivation in managing their own health. As levels of connection increase, patients are also more likely to report higher levels of satisfaction with their primary treating physician. Among the 57% of respondents who self-identified as not connected, many noted that they had a lack of guidance from their physicians on the importance of connectivity and the best options to engage with other patients.

“While it is extremely encouraging to know that connectivity through FCS focused websites, online platforms and support groups can have a positive impact on a patient’s quality of life and efforts to manage their own health, it seems clear that we need to do a better job in highlighting the importance of connectivity to patients and care providers to bring these benefits to more patients,” said Valerie Salvatore, senior manager of Global Medical Communications at Akcea Therapeutics, first author of the study.

Educating patients and connecting them with resources such as The FCS Foundation or FCS Focus are potential options to promote connectivity. There are also now a growing number of in-person meetings or social media channels focused on the needs of individuals living with FCS. These options position all patients to choose the level of engagement that works best for them. With the prospect of treatment for FCS available in the future, these findings reinforce that efforts to help patients connect with other patients should be considered a vital and beneficial element in patient management.

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