Answers are grounded in this paper and cite their sources.
The Japan Atherosclerosis Society has updated the Achilles tendon thickness thresholds for diagnosing heterozygous familial hypercholesterolemia to improve diagnostic sensitivity.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by extreme hyper low-density lipoprotein (LDL) cholesterolemia, premature coronary artery disease, and tendon xanthoma (TX) 1) .Most clinical criteria for the diagnosis of heterozygous FH adopt the existence of TX as one of the key items 2, 3) .Notably, only the Japan Atherosclerosis Society (JAS) diagnostic criteria for heterozygous FH requires quantitative evaluation of the Achilles tendon (AT), the threshold of which is ≥ 9 mm on X-ray imaging for both genders 3) .It was determined from the AT thickness of 36 participants with non-FH manually measured using a vernier micrometer in 1977 4) .The mean±standard deviation of AT thickness of those participants was 6.3±1.2 mm; that is, the AT thickness of 97.8% participants with non-FH was <8.7 mm.While the threshold of AT thickness ≥ 9 mm for genetically diagnosed heterozygous FH is extremely specific, it has the disadvantage of low diagnostic sensitivity 5) .Thus, very recently, the JAS has changed the reference value of AT thickness for the diagnosis of heterozygous FH from 9.0 mm for both genders to 8.0 mm for male and 7.5 mm for female patients based on our
No takes yet. Share an insight, caveat, or question.
Kawashiri et al. (2022) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: