Fuchs Katharina, Atabiev Biaslan Ch, Witzmann Florian, Gresky Julia
Institute of Clinical Molecular Biology, Kiel University, Rosalind-Franklin-Str. 12, 24105, Kiel, Germany.
Institute of Caucasian Archaeology, Kathkanova 30, 361401, Nalchik, Republic Kabardino-Balkaria, Russian Federation.
Int J Paleopathol. 2021 Mar;32:61-73. doi: 10.1016/j.ijpp.2020.11.004. Epub 2020 Dec 21.
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.
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.
We use macroscopic as well as osteometric examination methods and imaging techniques.
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.
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.
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.
As this study is limited to LCPD, our conclusions are not directly applicable to other ARD in question.
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.
本研究探讨了在北高加索地区青铜时代库达胡尔特14号墓地疑似Legg-Calvé-Perthes病（LCPD）病例中为古代罕见疾病（ARD）确立定义的挑战与可能性。
我们调查了一名死亡时年龄在35至45岁之间男性的骨骼遗骸。为作比较，我们检查了埋葬在库达胡尔特14号墓地的其他男性（n = 24），并回顾了古病理学文献中的22例LCPD病例。
我们采用宏观及骨测量检查方法和成像技术。
左髋关节的形态与LCPD的骨骼特征相符。同时出现的剥脱性骨软骨炎、股骨前倾以及左股骨干萎缩提示疾病过程复杂。
应用于古代骨骼遗骸的现代罕见疾病标准要么不可转换，要么需要完善。我们得出结论，罕见性是动态的，病因不确定性必须被接受，且各自的社会经济背景至关重要。残疾程度和社会医疗投入水平并非ARD的定义标准。
该研究可追溯至公元前2200 - 1650年，目前呈现了最早的疑似LCPD病例。这是首次尝试将现代罕见疾病特征转化以确立ARD的古病理学概念。
由于本研究仅限于LCPD，我们的结论不能直接应用于其他相关的ARD。
需要对来自不同文化和时间段的骨骼群体进行更具针对性的古病理学研究，从而能够从进化角度看待古代、现代及未来罕见疾病的可比性。
