CASCADE FH Registry (CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia Registry)

The FH Foundation CASCADE-FH Registry will implement an enrollment framework which is characterized by three possible points of contact: 1) Clinic enrollment 2) Self-enrollment through an online patient portal, and 3) Electronic Health Record (EHR) identification.

Pathway 1: Clinic-Based Screening and Enrollment During the initial study phase, a number of specialized lipid clinics across the US will participate in the CASCADE-FH registry. FH patients at these sites who meet inclusion will enroll. Each site will be required to receive IRB approval and obtain patient consent. Once the initial set of specialized lipid clinics has demonstrated acceptable feasibility for patient enrollment and engagement, additional sites will be recruited into the registry.

Data collection For data entered at clinical sites, the primary source of information will be the patient's medical record. Baseline data will elements to be abstracted and entered.

Data elements entered by self-enrolled patients in the online patient portal will include a subset of clinical information as well as questions on quality of life, disease-related anxiety, and depression. A short survey to assess patient understanding of FH health risks, available treatment options, and family member screening will also be included. The patient questionnaire was designed to be free of clinical jargon and pilot-tested by FH patient volunteers to ensure ease of use by participants.

Followup data collection For patients enrolled at clinical sites, providers will be asked to update information at yearly intervals. Medical records will be reviewed to assess changes in medications, occurrence of major adverse cardiovascular events, hospitalizations, genetic testing, and laboratory values updated since the last date of data entry. Follow-up data will be collected yearly for 3 years following initial enrollment. Self-enrolled patients may update data at any time by accessing the patient portal. Updated information on current medication regimens, clinical events, and quality of life will be collected. However, reminder emails will be sent to all self-enrolled patients on an annual basis to ensure uniform entry of follow up information.