The study aimed to investigate an association between physical anthropological characteristics of patients and a presence of Wilson’s disease (WD), as well as a possibility to use these characteristics as an additional criterion for WD diff erential diagnosis. On the base of examination of 67 patients with a confi rmed WD diagnosis (the biggest sample in Ukraine) in comparison with a control group (50 persons from the general population), it was shown that the physical anthropological structure of the cohort of patients with WD had a prominent specifi c peculiarities and principal diff erences from the general population both qualitatively and quantitatively. This suggests about the importance of the physical anthropological factor in WD pathogenesis.

A presence of WD was associated with belonging to the morpho-constitutional group of dolichomorphic phenotypic variants (PhVs) (88.06% among patients with WD vs. 38.00% in the control group; p<0.00001) and was associated negatively with belonging to the group of brachymorph PhVs (11.94% vs. 62.00%, respectively; p<0.00001). The performed analysis allowed to develop for the studied population a spectrum of associating between the main PhVs and risk of WD presence: a positive associating characterized Mediterranean and Atlanto-Baltic PhVs (a very high level) and Uralic PhV; a neutral associating characterized Dinaric PhV; a negative associating characterized East-Baltic PhV, Paleoeropean PhV and Alpine PhV (a very high level). Being male might be an additional factor of a positive associating with WD presence for AtlantoBaltic PhV and a negative associating for Paleoeuropean PhV. The abovementioned peculiarities should be taken into account in WD diagnosis and a differential diagnosis.