Molnár Gyula, Gyarmathy V Anna, Zádori Noémi, Hegyi Péter, Kanizsai Péter
School of Doctoral Studies, Semmelweis University, Budapest, Hungary.
EpiConsult Biomedical Consulting and Medical Communications Agency, Dover, Delaware, USA.
Case Rep Gastroenterol. 2021 Feb 18;15(1):218-224. doi: 10.1159/000511017. eCollection 2021 Jan-Apr.
The prevalence of familial hypercholesterolemia (FH) is about 1 in 200-500 in the general population, but approximately less than 1% of those affected are actually diagnosed. One of the most promising approaches to treat FH is utilizing human monoclonal antibodies. This is a case study describing a 47-year-old male patient who presented to the Emergency Department with acute abdominal pain caused by severe hypertriglyceridemia (HTG)-induced acute pancreatitis (AP). We report the steps necessary for establishing the right diagnosis and the management of HTG-induced AP, which are inevitable for the reduction of severity and mortality. This case study shows that hypercholesterolemia is an underdiagnosed and potentially lethal disease. Once diagnosed, all measures should be considered to control blood cholesterol and lipid levels. The decision to administer PCSK9 inhibitors should not be solely based on economical calculation, but rather individual factors should also be considered to weigh the risk/benefit ratio.
家族性高胆固醇血症（FH）在普通人群中的患病率约为1/200至1/500，但实际被诊断出的患者约不到1%。治疗FH最有前景的方法之一是使用人单克隆抗体。这是一个病例研究，描述了一名47岁男性患者，因严重高甘油三酯血症（HTG）诱发急性胰腺炎（AP）而出现急性腹痛并前往急诊科就诊。我们报告了建立正确诊断和管理HTG诱发AP所需的步骤，这些步骤对于降低严重程度和死亡率是必不可少的。该病例研究表明，高胆固醇血症是一种诊断不足且可能致命的疾病。一旦确诊，应考虑采取所有措施来控制血液胆固醇和脂质水平。给予前蛋白转化酶枯草溶菌素9（PCSK9）抑制剂的决定不应仅基于经济考量，还应考虑个体因素以权衡风险/获益比。
