This protocol targets adult patients with 22q11.2 deletion syndrome who have developed type 2 diabetes — a comorbidity that arises at significantly elevated risk and at a markedly earlier age in this population compared with the general public.
Even after accounting for conventional risk factors — including family history, ethnicity, medications, and obesity — the 22q11.2 deletion itself independently raises the risk of type 2 diabetes, with onset occurring on average 18 years earlier than expected in the general population. This earlier onset makes structured, proactive management essential in adults with this diagnosis.
Early implementation of dietary and exercise measures is a central priority in this population. The complete regimen — including further pharmacological therapies and clinical decision thresholds — is set out in the full protocol.
Full sequencing and algorithm available via the link below.Also, even after accounting for known risk factors (eg, family history, ethnicity, medications, obesity), the 22q11.2 deletion conveys increased risk of type 2 diabetes with on average younger (by 18 years) onset than population expectations.
Thus, implementing dietary and exercise preventive/management measures as early as possible is recommended and other standard treatments, eg, hypoglycemics, statins, as indicated.
DOI: 10.1016/j.gim.2022.11.012
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