A Family History of Arthritis? Save

Using data from the population based All of Us Research Program, a self reported history of arthritis and related conditions was associated with an increased risk for arthritis, osteoporosis, and carpal tunnel syndrome.

Data derived from a real-world population study the All of Us (AoU) Research Program examined associations between self-reported first-degree family history of 5 common types of arthritis (fibromyalgia, gout, osteoarthritis (OA), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE), osteoporosis, and carpal tunnel syndrome and prevalence. 

The cohort included from 156,307 participants -- overall 38% of AoU participants reported a family history of any arthritis, osteoporosis, or carpal tunnel syndrome. Adults with a family history of any arthritis, osteoporosis, or carpal tunnel syndrome had 3.68 to 7.59 (4.90, on average) odds of having the same condition, and 0.70 to 2.10 (1.24, on average) odds of having a different condition. 

The strongest associations observed were between family history of OA and prevalence of OA (OR 7.59, 95%CI 7.32-7.88), and family history of SLE and prevalence of SLE (OR 6.34, 95%CI 5.17-7.74). 

Race, ethnicity and sex disparities in family history associations were also uncovered.

These findings suggest that family history of arthritis and related conditions is important for primary prevention.

Or is it?

This report from CDC employs data from the NIHAoL Research Program analyzing via a “family history-wide association study” (FamWAS), a framework for comprehensively and systematically evaluating a range of family histories for their association with a disease outcome. While they claim this is analogod to genome-wide association studies (GWAS), the AoL is subjective recall, which is not at all analogous to genetic marker testing. 

The NIH AoL database has 413,457 participants, but this study includes only 156,307 participants (38% of total), who had completedemographic data and who had completed the Personal and Family Health History survey.

Thus survey recall of family history of arthritis was linked to subject recall of arthritis when answering "“Have you or anyone in your family ever been diagnosed with the following bone,joint, and muscle conditions?”, with the options for carpal tunnel syndrome, fibromyalgia, gout,OA, osteoporosis, RA, and SLE.  None of these diagnoses were physician , lab, imaging or EHR confirmed.

What's interconnected here may be the prevalent biases in self reported arthritis diagnoses. Isn't this why referral and evaluation by a rheumatologist is often advised?  In the discussion the authors admit that a potential limitations of this study includess selection bias, random error and recall bias. 

What I believe is that family history is seldom useful in diagnosing arthritis -- maybe with gout, Ankylosing spondylitis, DIP OA in women, and much less in RA or lupus.  

What do you think?