Towards a definition of Ancient Rare Diseases (ARD): Presenting a complex case of probable Legg-Calvé-Perthes Disease from the North Caucasian Bronze Age (2200-1650 cal BCE).
OBJECTIVE
This study discusses the challenges and possibilities of establishing a definition for Ancient Rare Diseases (ARD) in a probable case of Legg-Calvé-Perthes Disease (LCPD) from the Bronze Age cemetery Kudachurt 14, situated in the Northern Caucasus.


MATERIALS
We investigated the skeletal remains of a male aged 35-45 years at death. For comparison we examined other males buried at Kudachurt 14 (n = 24) and reviewed 22 LCPD cases from the paleopathological literature.


METHODS
We use macroscopic as well as osteometric examination methods and imaging techniques.


RESULTS
The morphology of the left hip joint corresponds to skeletal characteristics for LCPD. Co-occurring osteochondrosis dissecans, femoral anteversion, and atrophy of the left femoral shaft suggest a complex disease course.


CONCLUSIONS
Modern criteria of rare diseases applied on ancient skeletal remains are either non-transferable or require completion. We conclude that rarity is dynamic, etiological uncertainty has to be accepted, and the respective socioeconomic context is crucial. Degree of disability and level of sociomedical investment are not defining criteria for ARD.


SIGNIFICANCE
Dating 2200-1650 cal BCE, this study currently presents the earliest case of probable LCPD. This is the first attempt to transform modern characteristics of rare diseases for establishing a paleopathological concept of ARD.


LIMITATIONS
As this study is limited to LCPD, our conclusions are not directly applicable to other ARD in question.


SUGGESTIONS FOR FURTHER RESEARCH
More focused paleopathological research on skeletal populations from different cultures and time periods is needed, enabling an evolutionary perspective on the comparability of ancient, modern and future rare diseases.
['Fuchs|Katharina|K|', 'Atabiev|Biaslan Ch|BC|', 'Witzmann|Florian|F|', 'Gresky|Julia|J|']
D006621:Hip Joint D006801:Humans D007873:Legg-Calve-Perthes Disease D008297:Male D010008:Osteochondritis Dissecans D010164:Paleopathology D035583:Rare Diseases
Osteochondrosis dissecans Femoral anteversion Avascular necrosis Coxa magna Fractures Impairment