P. Barton Duell, M.D.Many diseases can cause a range of emotional challenges for patients, including anxiety, isolation, and depression. A wide range of research has demonstrated that these challenges can be especially severe in patients living with a rare diseases.

In a 2013 report commissioned by the drug company Shire that characterized U.S. patients with rare diseases, 75 percent reported feelings of depression, 65 percent noted that they frequently felt isolated, and 90 percent said they experienced anxiety and fear about the future outlook of living with their disease.

Familial chylomicronemia syndrome (FCS) is a rare lipid disorder that causes a buildup of fat in the blood and can lead to symptoms including abdominal pain and complications such as life-threatening pancreatitis.  In most cases, patients work to manage the disease by adhering to a highly restrictive low-fat diet. Recently, researchers have taken steps to learn more about the emotional impact of this rare genetic condition in affected individuals and family members. These research efforts have provided many new insights about the impact of FCS and the benefits of helping patients living with FCS to connect with other patients.

In a recent survey of FCS patients published in the journal Expert Review of Cardiovascular Therapy, 64 percent reported having a high level of stress and anxiety because of FCS. In addition, 74 percent reported that it is difficult for friends to understand the impact FCS has on their lives and 81 percent said they are concerned that they will never be able to live a normal life.

Moreover, 22 percent of patients reported suffering from episodes of depression. They also reported high levels of concern about their risk of having pain and acute pancreatitis, as well as embarrassment related to always thinking about and planning for dietary restrictions. Patients reported that the lack of medication options for FCS contributes to their feelings of anxiety. 

Recent efforts to improve the care of patients with FCS have included establishment of patient advocacy organizations and development of programs to engage FCS patients in group discussion meetings held in the United States. The results of these actions have highlighted the potential benefits that may be derived from patient-to-patient interactions for patients with FCS and other rare diseases.

Following an opportunity to meet and speak with other people living with FCS, often for the very first time, patients reported that these connections helped reduce the feelings of isolation they have lived with for many years. They also were able to share coping strategies that helped diminish feelings of anxiety and fear.  

Decreased despair and increased feelings of hopefulness have been reported. Participants also reported that participation in group meetings left them feeling empowered and reassured, enhancing their ability to manage the disease. They also noted that although online connections are helpful, interactions with other patients in-person provided much greater benefit. The relationships developed during group meetings added a personal dimension that enhanced follow up connections made via phone or online.  To expand on the successes resulting from group meetings held in the United States, the first global meeting of people living with FCS is scheduled for mid-2018.

Researchers are currently assessing the effects of patient-to-patient connections on possible improvements in treatment efficacy and compliance in patients with FCS. The results of this study will be presented later this year.

In the meantime, the information available so far strongly supports the notion that bringing patients together for in-person group interactions is useful strategy for improving patient well-being and optimizing long-term care. Patient advocacy organizations, such as the FCS Foundation, are a valuable asset for building awareness, providing education, and helping patients surmount the personal and emotional challenges associated with FCS and other rare diseases.


Akcea Therapeutics paid Berry & Company a small honorarium for developing a draft of this article.  

Posted February 27, 2018