InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia
InFocus France Epidemiological Study of Health Burden in Major Hypertriglyceridemia
FCS and MCS patients recruited from 7 academic reference centers were invited to answer a
 paper or a web questionnaire. Questions encompassed demographics, physical, cognitive and
 mental symptoms, health care circuit, past and current disease management, satisfaction
 regarding healthcare providers and impact on daily life.
cross-sectional study involving a sample of FCS and MCS patients in 1:1 ratio. The study was
 run in seven academic reference centers in France. Adult patients with documented history of
 fasting TG > 10 mmol/L (885 mg/dL) were recruited. Patients had to be genetically
 characterized or MCS patients had a MCS score ≤ 9 [11]. Group sample sizes of 19 FCS and 19
 MCS have been calculated to achieve an at least 80% power to detect a 40% difference in the
 frequency of abdominal pain assuming that 90% of FCS patients would complain about abdominal
 pain.

 The study protocol was approved by a nationally appointed ethics committee (Comité de
 Protection des Personnes - Ile de France 5) under number 18040. The study protocol complied
 with the ethical guidelines of the Declaration of Helsinki and the French Bioethics Law
 Jarde. The data management complied with the CNIL requirement. Each patient was informed
 about the aims and constraints of the study and signed a non-opposition form prior to any
 study procedure.

 Health Burden assessment The French IN-FOCUS study was designed to capture current and
 retrospective data in FCS or MCS. Patients were called by the participating centers and were
 proposed to answer a paper questionnaire or to connect to a web-based questionnaire The
 questionnaire was divided into sections specifically assessing various domains of their
 experience: demographic data, signs, symptoms and complications of the disease, healthcare
 circuit, management, relationship with healthcare providers, and burden of the disease on
 daily life. (Details are available as supplementary material S1). The questionnaire focused
 on symptoms because the interest of quality of life assessment tools is debated in rare
 diseases with episodic manifestations. Indeed, most of these tools refer to a limited recall
 period.

 Data analysis The statistical analysis was performed by Soladis (Lyon, France) using the
 Statistical Analysis System (SAS) software 9.4 (SAS Institute, Cary, NC, USA). Continuous
 variables were summarized by the number of observed data, mean, standard deviation (SD),
 median, first and third quartiles. Categorical variables were described as numbers and
 percentages calculated on the number of observed data. FCS and MCS subjects were compared
 using Student's t test or U Mann-Whitney's test. Categorical variables were compared by the
 chi squared test or the Fisher's exact test. Tests were two-sided and the significance
 threshold was set at 5%. No adjustment of the Type 1 error risk was made for multiplicity.
 Impact of history of AP was evaluated in a multivariable model (logistic regression for
 binary variables, ordinal logistic regression for ordinal variables) including the type of
 disease (FCS or MCS), history of AP and the interaction between these two predictors.
Inclusion Criteria:

 -  any adult FCS patient genetically documented any adult MCS patient genetically or
 phenotypically documented

 Exclusion Criteria:

 -  legal restrictions