Makins Richard, Stevenson Emma, Sobczyńska-Malefora Agata
Department of Gastroenterology, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK.
Clinical Biochemistry, Gloucestershire Hospitals NHS Foundation Trust, Gloucester, UK.
Biomark Med. 2025 Feb;19(3):59-62. doi: 10.1080/17520363.2025.2455927. Epub 2025 Jan 25.
This case describes a patient with pancreatic exocrine insufficiency and persistently elevated serum vitamin B12 concentrations that were not due to supplementation or associated with hepatic or hematological pathology. Laboratory investigations suggested the presence of macro-B12 as the cause of this patient's raised serum vitamin B12. Macro-B12 is often formed when vitamin B12-vitamin binding proteins (transcobalamin and haptocorrin) complex with immunoglobulins. These molecules are thought to be biologically inert but their presence may lead to unnecessary investigations trying to eliminate other causes of elevated serum vitamin B12, such as solid tumors or hematological malignancies. If the presence of macro-B12 is suspected, the functional markers of B12 status, methylmalonic acid (MMA) or homocysteine, may be used preferentially to serum vitamin B12 to assess status.
本病例描述了一名患有胰腺外分泌功能不全且血清维生素B12浓度持续升高的患者,其并非由于补充维生素B12所致,也与肝脏或血液系统病变无关。实验室检查提示存在巨维生素B12,这是该患者血清维生素B12升高的原因。巨维生素B12通常在维生素B12-维生素结合蛋白(转钴胺素和钴胺素结合蛋白)与免疫球蛋白结合时形成。这些分子被认为是无生物学活性的,但它们的存在可能会导致进行不必要的检查,试图排除血清维生素B12升高的其他原因,如实体瘤或血液系统恶性肿瘤。如果怀疑存在巨维生素B12,可优先使用维生素B12状态的功能标志物,即甲基丙二酸(MMA)或同型半胱氨酸,来评估维生素B12状态,而非血清维生素B12。