Meibomian glands that are embedded in tarsal plates of human eyelids, and sebaceous glands found in the skin, including that of eyelids, are two related types of holocrine glands that produce lipid-rich secretions called meibum and sebum. Pervasive ocular disorders, such as Meibomian gland dysfunction and dry eye, have been linked to changes in the lipid composition of meibum. However, in most described cases the changes were either small, or random, or insufficiently characterized on the molecular level. Here, we present results of comprehensive lipidomic analyses of meibum, tears and sebum of a patient whose secretions were highly abnormal (abnormal meibum, tears and sebum, or AMTS, patient). The lipidomes were characterized on the level of individual lipid species using ultra-high performance liquid chromatography and high resolution mass spectrometry. The major differences between the AMTS patient and normal age- and gender-matched subjects included, among others, severely diminished pools of normal meibomian lipids such as wax esters and cholesteryl esters in meibum and tears, a 2x increase in total cholesteryl esters to wax esters ratio, their skewed molecular profiles, a ~3x increase in free cholesterol to cholesteryl esters ratio, and, most importantly, a 20x to 30x increase in the triglicerides fraction over the norm. Sebum of the AMTS patient was also highly abnormal lacking major wax esters. Notably, the routine blood lipid panel test of the AMTS patient showed no abnormalities. The data imply that the AMTS patient had a severe, previously unreported, metabolic disorder that affected meibogenesis in Meibomian glands and sebogenesis in sebaceous glands. This is, to the best of our knowledge, a first observation of the condition that we have termed High Triglycerides/Low Waxes (HTLW) syndrome.

嵌入人眼睑跗骨板中的睑板腺和皮肤中发现的皮脂腺，包括眼睑的皮脂腺，是两种相关类型的全分泌腺，可产生称为睑脂和皮脂的富含脂质的分泌物。普遍的眼部疾病，如睑板腺功能障碍和干眼症，与睑脂的脂质成分变化有关。然而，在大多数描述的情况下，这些变化要么很小，要么是随机的，要么在分子水平上没有充分表征。在这里，我们展示了对分泌物高度异常的患者（异常睑脂、泪液和皮脂，或 AMTS，患者）的睑脂、泪液和皮脂进行综合脂质组学分析的结果。使用超高效液相色谱和高分辨率质谱法在单个脂质种类的水平上表征脂质组。AMTS 患者与正常年龄和性别匹配的受试者之间的主要差异包括，正常睑板脂质（如睑脂和泪液中的蜡酯和胆固醇酯）的池严重减少，总胆固醇酯与蜡酯相比增加了 2 倍比例，他们偏斜的分子分布，游离胆固醇与胆固醇酯的比例增加了约 3 倍，最重要的是，甘油三酯的比例增加了 20 到 30 倍。AMTS 患者的皮脂也高度异常，缺乏主要的蜡酯。值得注意的是，AMTS 患者的常规血脂面板测试未显示异常。数据意味着 AMTS 患者患有严重的、以前未报告的代谢紊乱，影响睑板腺的睑板腺生成和皮脂腺的皮脂生成。据我们所知，这是对我们称为高甘油三酯/低蜡 (HTLW) 综合征的第一次观察。