Twenty respondents from the UK completed the survey. UK participants were predominately male (75%) with a median age of 32 years (range: 19–53 years) (Table 1). Patients reported the median age of FCS diagnosis was 8 years (range: 2–17 years) and 80% of respondents were diagnosed with FCS prior to age 10 years (Table 1). In agreement with the young age of diagnosis, respondents reported beginning to utilize dietary management strategies in adolescence. All but one respondent reported TG values greater than 8.4 mmol/L at the time of diagnosis and 35% had TG levels above this value at their most recent test, despite multiple management strategies.
Experience with health care professionals (HCPs)
Participants reported seeing a mean of four HCPs regarding their symptoms prior to receiving a diagnosis of FCS (Table 1). Of the 12 respondents who could recall their diagnosing physician, pediatricians were the most common diagnosing HCP (Fig 1a), followed by endocrinologists (n=3), and lipid specialists (n=2). Four respondents (20%) reported that their symptoms were initially misdiagnosed as either acute pancreatitis (n=2), stomach pain (n=1) or mental retardation (n=1). These misdiagnoses were by primary care physicians (n=2) and an ER doctor (n=1); the fourth patient could not recall this information.
Eighty-five percent of respondents (n=13) reported their FCS is currently managed by a pancreas specialist (30%), endocrinologist (35%), or lipid specialist (20%) (Figure 1b). Seventy percent of patients reported they were satisfied with current HCP management of their FCS (Figure 1c). Obtaining a knowledgeable and dependable HCP to manage their FCS is critical for these patients because 86% of patients reportedly receive information regarding FCS from their managing HCP.
Symptoms of FCS
Participants reported experiencing a median of four symptoms of FCS at any one time, regardless of the severity of their symptoms at the time (Table 2). Physical symptoms of moderate severity, 1–3 times every 2 weeks, were reported as typical and included generalized abdominal pain, indigestion, fatigue and lack of appetite (Table 2). Emotional symptoms of FCS related to anxiety, fear and/or worry were reported by the respondents as typically occurring with moderate severity once or twice weekly, while other emotional symptoms may present once or twice monthly (Table 2). The most pervasive emotional symptom was constant uncertainty regarding an attack of pain/acute pancreatitis at any time which was reported by five (25%) respondents each. Cognitive symptoms most frequently reported in both severe and typical periods was impaired judgment (n=3, 15%) During severe periods, patients reported similar symptoms to those experienced during typical periods, but slightly less frequent and of much greater severity (Table 2).
Comorbidities and Acute Pancreatitis
All respondents had been diagnosed with at least one FCS-related comorbidities (Figure 2a,b), including nine respondents (45%) who had experienced FCS-related acute pancreatitis. Respondents reported an average of one episode of acute pancreatitis in the preceding 12 months and 13 episodes during their lifetime. All respondents who reported acute pancreatitis required hospitalization for at least one of their episodes and one patient was readmitted within 30 days of being discharged for acute pancreatitis. Amongst the nine patients hospitalized for acute pancreatitis, the mean length of stay was 4 nights, with one patient staying 8 nights. The second most reported comorbidity (n=6, 30%) was a physician diagnosed eating disorder and FCS-related diabetes was also reported by three (15%) respondents.
Management of FCS
Respondents reported that they employ a median of five strategies for managing symptoms of FCS (Figure 3). Ninety percent (n=18) of respondents reported following an extremely low-fat diet, adhering to a maximum reported daily fat intake of 25g (mean = 22g). However, only 55% of respondents reported also reducing their consumption of carbohydrates and 50% completely abstain from consuming alcohol. Fifteen (75%) respondents reported using fasting to help manage the symptoms of FCS, seven of whom reported fasting routinely. Use of TG-lowering medications was reported by 40% of respondents. The strategies for managing FCS can be extremely challenging to maintain and may not alleviate symptoms. Three-quarters of respondents (n=15) reported that significant time and energy is required to manage their FCS and despite strict compliance to this rigid management strategy, 40% of respondents continue to experience symptoms (Figure 4). Anxiety, fear, or worry due to health concerns and food preparation and management were also reported by 20% of respondents in varying degrees of severity (Table 2).
Impact on Employment Status and Career Selection
FCS impacted respondents’ employment status, career selection, and work place productivity. Thirteen (65%) respondents reported being employed, but only three had a full-time position (15%) (Figure 5a). Of the 14 UK respondents who were unemployed, or employed part time, at least 50% reported it was largely due to their FCS and only 2 respondents reported that FCS had no impact on their employment status (Figure 5b).
Eighteen (90%) respondents believe that FCS has impacted their career choices (Figure 5c). Respondents reported they cannot pursue a career that involves travel (83%) or that their ideal career is prohibitive to adhering to their strict diet (78%). Twelve (67%) of these respondents indicated they can only do their job effectively on “good days” and a feeling of forced under employment due to FCS was reported by seven out of the 13 (62%) respondents in paid employment. Nine out of 13 respondents (69%) in paid employment also reported requiring a mean 15 days off work in the preceding 12 months due to FCS-related issues.
Impact on Outlook and Social Engagement
The extremely restrictive nature of the management strategies makes it difficult to interact socially with friends, colleagues, and family. Respondents reported that their current management strategy impacts their ability to entertain at their home, be spontaneous, or travel. Additionally, the unique nature of FCS and its management strategies causes stress for respondents’ families and is challenging to explain to social and professional acquaintances. (Figure 6).
FCS had a negative impact on the emotional and mental well-being of many respondents. FCS was considered to be a major stressor by 70% of respondents (Figure 7). Sixty five percent of respondents also reported that FCS has significant impact on their feeling of self-worth (Figure 7). Combined, these factors severely detract from the mental well-being of patients with FCS as reported by 55% of respondents (Figure 7).
Respondents in the UK had a higher prevalence of concern about the progression of their FCS with age, compared to the global study. All respondents reported worrying about their FCS getting worse with age and 85% worry about the long-term ramifications of FCS on their health (Figure 8). FCS also had an impact on the decision to have children, or how many to have, with 10 respondents reporting the decision was influenced by their FCS. One of the five female respondents reported a pregnancy and even though she was diagnosed at the age of 2 was unaware of the complications associated with FCS.