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We review the current literature of PEA, with a focus on clinical and imaging findings, in order to raise awareness about this frequently misdiagnosed entity. 2019 Annals of Translational Medicine. All rights reserved.Identified genetic variants from genome wide association studies frequently show only modest effects on the disease risk, leading to the "missing heritability" problem. An avenue, to account for a part of this "missingness" is to evaluate gene-gene interactions (epistasis) thereby elucidating their effect on complex diseas