Baylor University basketball star Isaiah Austin was 20 years old when the NBA told him last month that he had Marfan syndrome and was ineligible to play professional basketball. Why was Austin not diagnosed with this potentially fatal connective-tissue disorder earlier in life? The answer may lie in a 2010 study by Sponseller et al. in JBJS. The authors point out that early diagnosis of Marfan syndrome is complicated by the fact that many of its recognizable skeletal features—including scoliosis and flat feet—appear with some frequency in the general population.
By studying people with confirmed Marfan syndrome and those without, the authors discovered that the most diagnostically relevant physical characteristics of the syndrome are craniofacial features such as narrow cranial shape and positive thumb and wrist signs. The combined presence of those characteristics yielded an area-under-the-curve diagnostic accuracy of 0.997. Doctors often recommend that people with suspected Marfan syndrome receive confirmatory genetic tests, which are readily available but expensive.
Even though it’s difficult to recognize Marfan syndrome on the basis of physical observation alone, Sponseller et al. suggest that orthopaedists “at least briefly visualize the entire patient” and consider a referral for genetic testing and/or echocardiogram when the aforementioned features are present.
For his part, Mr. Austin took the news in stride. He said he plans to return to Baylor to finish his degree and perhaps become a Marfan syndrome advocate-educator. His inspiring Instagram message: “Please do not take the privilege of playing sports or anything for granted.”
When it comes to knowing the costs of the devices they implant, orthopaedic surgeons and residents are batting only .210 and. 170, respectively. More than 500 orthopaedic surgeons surveyed at seven US academic medical centers correctly estimated the cost of common orthopaedic devices only 21% of the time. Residents at the same institutions did so only 17% of the time. Many of these respondents (36% of surgeons and 75% of residents) admitted that their knowledge of device costs was “below average” or “poor.” All respondents tended to overestimate the price of low-cost devices and to underestimate the price of high-cost devices. The implication of that tendency, say the authors of the Health Affairs study, is that “physicians may underestimate the amount that could be saved by choosing the lower-cost alternative.” The biggest barrier to physicians knowing device prices is confidentiality clauses in the contracts between device vendors and hospitals. “Widespread dissemination of device prices is not an option at many institutions,” wrote the authors. It remains to be seen whether the proliferation of accountable care organizations, with their emphasis on cost-efficient care, will alter this situation. For more about cost variation in orthopaedic devices, see the JBJS article “Variability in Costs Associated with Total Hip and Knee Replacement Implants.”