Tuesday, March 28, 2023
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This activity is intended for diabetologists/endocrinologists, family medicine, primary care clinicians, nurses/nurse practitioners, physician assistants, pediatricians, pharmacists and other members of the health care team for patients with type 1 diabetes (T1D).
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Estimated prevalence of familial type 1 diabetes (T1D) varies from 5% to 12.2%, according to a recent report comparing familial and sporadic T1D among young patients, published in May 2021 in Diabetes Care.[1] First-degree relatives are ideal candidates for T1D prevention strategies because of high lifetime diabetes risk and easy identification.
Evidence is accumulating that for patients with T1D who have a family history of it -- defined as having at least 1 first-degree relative with T1D -- the disease is often substantially different from that of people with sporadic T1D who have no family background.
The most striking difference: Familial cases are associated with many more comorbidities.
Researchers hope that a better understanding how familial and sporadic diabetes differ will yield new insights into how to best tailor treatments for patients with T1D in the future.
Among persons with familial disease, prevalence rates of hypertension, hyperlipidemia, atherosclerosis, retinopathy/maculopathy/vitreopathy (RMV), erectile and sexual dysfunction, gastroesophageal reflux disease (GERD), neuropathy, and nephropathy were significantly higher, as were rates of several other comorbidities.
In contrast, people with sporadic cases of T1D were significantly more likely to have no comorbidities. Several of the comorbidities among the familial patients clustered in groups of 2 or 3 in the studied cohort. The researchers identified these prevalence patterns using a specially designed analytic, data-mining algorithm.
7% of Type 1 Diabetes Cases Are Familial: Differences in Autoimmune DiseaseThe findings open a new dimension in the growing appreciation of how sporadic and familial cases differ. A 2021 report from Europe that involved assessment of a population-based registry with more than 57,000 children and teenagers with T1D from Germany, Austria, Switzerland, and Luxembourg[1] documented a familial prevalence of approximately 7% of the entire pediatric cohort.
The 2021 report also showed that familial disease showed up earlier. The average age of children with familial disease was 7.9 years compared with 9.7 years among children with sporadic disease. Among the patients with familial disease, there was a higher prevalence of associated autoimmune comorbidity and indications of more aggressive autoimmunity.
The researchers found that autoimmune diseases occurred in 16.7% of patients with familial T1D compared with 13.6% of patients with sporadic disease, a significant, 23% relative difference. Among the autoimmune diseases assessed, celiac disease showed the largest between-group difference, with a 6.2% prevalence among patients with familial T1D compared with a 4.2% prevalence among patients with sporadic disease.
The results in these 2 reports plus other findings suggest that the differences in risk profiles among patients with sporadic disease and patients with familial T1D are related to the "pathways of autoimmunity and inflammation" that help determine the "glycemic trajectory of the disease" and also influence "complications of abnormal glycemic control" in patients with familial disease, said Mark A. Clements, MD, PhD, a pediatric endocrinologist at Children's Mercy Hospital in Kansas City, Missouri, who co-authored the more recent US report.
Beyond One Size-Fits-All Type 1 Diabetes CareAlthough Clements stressed that his group's findings are preliminary and need confirmation and validation with other datasets, they pointed toward an eventual end to the current practice of "applying the same care paradigm to all patients with [T1D]," he said in an interview.
A goal is to distinguish patients with familial and patients with sporadic forms with distinct multivariable risk models, he added. An attraction of the artificial intelligence method he and his associates applied is that it can potentially find "important patterns [of linked comorbidities] that people cannot see."
Stepped-Up ScreeningThe higher prevalence of autoimmune diseases in patients with familial disease suggests the potential for personalized screening for associated autoimmune diseases, Karges suggested in an interview.
"Regular screening for autoimmune thyroid and celiac disease may lead to earlier detection and treatment of comorbidities and improve patient care," Karges noted.
The study run by Clements and his associates (Tallon et al) used patients selected from the T1D Exchange Clinic Registry,[3] which enrolled more than 34,000 US residents with T1D during 2007 to 2018 at any of 83 US endocrinology practices. The researchers selected for their study a disproportionately high percentage of people with familial disease, 24% of the 16,232 individuals studied. Clements noted that the approximately 7% prevalence of familial T1D seen in the study led by Karges is a much better approximation of how often familial cases arise.
The Karges study used data compiled in the Diabetes Prospective Follow-up Registry,[4] based at Ulm University, Germany, with patients enrolled during 1995 to 2018.
A key difference between the US and European studies is that the US database included a significant minority of people with adult-onset T1D whereas the Karges' study exclusively focused on T1D in which onset occurred during childhood or adolescence.
Important differences in diet, activity, and other lifestyle and cultural factors also likely distinguish the US-based study and the one that involved patients from Central Europe, Clements noted.
Neither study received commercial funding. Clements is chief medical officer for Glooko and has received research support from Abbott Diabetes Care and Dexcom. Karges has disclosed no relevant financial relationships.
