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.

中文翻译：

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对古代罕见病 (ARD) 的定义：呈现北高加索青铜时代（公元前 2200-1650 年）可能发生的 Legg-Calvé-Perthes 病的复杂病例

客观的

本研究讨论了在位于北高加索地区的青铜时代公墓 Kudachurt 14 的 Legg-Calvé-Perthes 病 (LCPD) 可能病例中建立古代罕见病 (ARD) 定义的挑战和可能性。

材料

我们调查了一名 35-45 岁男性死亡时的骨骼遗骸。为了进行比较，我们检查了埋在 Kudachurt 14（n = 24）的其他男性，并回顾了古病理学文献中的 22 例 LCPD 病例。

方法

我们使用宏观以及骨测量检查方法和成像技术。

结果

左髋关节的形态对应于 LCPD 的骨骼特征。同时发生的剥脱性骨软骨病、股骨前倾和左股骨干萎缩表明病程复杂。

结论

应用于古代骨骼遗骸的罕见疾病的现代标准要么不可转让，要么需要完成。我们得出结论，稀有性是动态的，必须接受病因学的不确定性，并且各自的社会经济背景至关重要。残疾程度和社会医疗投资水平不是 ARD 的定义标准。

意义

约会 2200-1650 cal BCE，这项研究目前提出了可能的 LCPD 的最早案例。这是首次尝试改变罕见病的现代特征，建立ARD的古病理学概念。

限制

由于这项研究仅限于 LCPD，我们的结论并不直接适用于其他相关 ARD。

进一步研究的建议

需要对来自不同文化和时间段的骨骼种群进行更集中的古病理学研究，从而从进化的角度看待古代、现代和未来罕见疾病的可比性。