Global Burden and Treatment Trajectiories in Italian Patients With Fabry Disease

Occurrence of severe and fatal clinical outcomes derived by event-free survival from birth to last follow-up or cross-sectional visit;

Comprehensive burden intended as a measure of extension of clinical impairment assessed by median Mainz Severity Score Index (MSSI) at last follow-up or cross-sectional visit.

Percentage of patients with disease progression measured by FAbry STabilization indEX and defined as a change >20% from the first available FASTEX score to the last follow-up and in the last 2 years until the last follow-up and 2 years before the last follow-up or cross-sectional visit (or when available within 3-1 years before last follow-up)

Percentage of patients with disease activity assessed by the occurrence rate of clinically significant events from diagnosis to last follow-up or cross-sectional visit.

Uses simple numeric rating scales from 0 (no pain) to 10 (severe pain)

Seven component scores are derived, each scored 0 (no difficulty) to 3 (severe difficulty). The component scores are summed to produce a global score (range 0 to 21). Higher scores indicate worse sleep quality.

It contains 17 items. A score of 0-7 is considered to be normal while a score of 20 or higher (indicating at least moderate severity)

There are 8 sections: dressing, arising, eating, walking, hygiene, reach, grip, and activities. There are 2 or 3 questions for each section. Scoring within each section is from 0 (without any difficulty) to 3 (unable to do).The 8 scores of the 8 sections are summed and divided by 8.

Covers eight health domains: physical functioning (10 items), bodily pain (2 items), role limitations due to physical health problems (4 items), role limitations due to personal or emotional problems (4 items), emotional well-being (5 items), social functioning (2 items), energy/fatigue (4 items), and general health perceptions (5 items). Scores for each domain range from 0 to 100, with a higher score defining a more favorable health state.

Time from first manifestation to diagnosis

Percentage of patients prescribed to different treatment among naïve and switchers groups; determinants of untreated, treated discontinue, treated persisting status.