Unidade de Endocrinologia Genética (LIM-25), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Instituto do Câncer do Estado de São Paulo (ICESP), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
Front Endocrinol (Lausanne). 2024 Jan 9;14:1308662. doi: 10.3389/fendo.2023.1308662. eCollection 2023.
The best-known etiologies of hyperinsulinemic hypoglycemia are insulinoma, non-insulinoma pancreatogenous hypoglycemic syndrome, autoimmune processes, and factitious hypoglycemia. In 2009, a disease not associated with classic genetic syndromes and characterized by the presence of multiple pancreatic lesions was described and named insulinomatosis. We present the clinical and pathologic features of four patients with the diagnosis of insulinomatosis, aggregated new clinical data, reviewed extensively the literature, and illustrated the nature and evolution of this recently recognized disease. One of our patients had isolated (without fasting hypoglycemia) postprandial hypoglycemia, an occurrence not previously reported in the literature. Furthermore, we reported the second case presenting malignant disease. All of them had persistent/recurrent hypoglycemia after the first surgery even with pathology confirming the presence of a positive insulin neuroendocrine tumor. In the literature review, 27 sporadic insulinomatosis cases were compiled. All of them had episodes of fasting hypoglycemia except one of our patients. Only two patients had malignant disease, and one of them was from our series. The suspicion of insulinomatosis can be raised before surgery in patients without genetic syndromes, with multiple tumors in the topographic investigation and in those who had persistent or recurrent hypoglycemia after surgical removal of one or more tumors. The definitive diagnosis is established by histology and immunohistochemistry and requires examination of the "macroscopically normal pancreas." Our case series reinforces the marked predominance in women, the high frequency of recurrent hypoglycemia, and consequently, a definitive poor response to the usual surgical treatment.
最常见的高胰岛素血症性低血糖症的病因包括胰岛素瘤、非胰岛素瘤胰源性低血糖综合征、自身免疫过程和医源性低血糖症。2009 年,描述了一种与经典遗传综合征无关的疾病,其特征是存在多个胰腺病变,并将其命名为胰岛细胞瘤病。我们介绍了 4 例胰岛素细胞瘤病患者的临床和病理特征,汇总了新的临床数据,广泛回顾了文献,并说明了这种最近才被认识的疾病的性质和演变。我们的一位患者存在孤立性(无空腹性低血糖)餐后低血糖,这在文献中尚未报道过。此外,我们还报告了第二例恶性疾病患者。尽管首次手术的病理证实存在阳性胰岛素神经内分泌肿瘤,但所有患者仍存在持续性/复发性低血糖。在文献复习中,共汇总了 27 例散发性胰岛细胞瘤病病例。除了我们的一位患者外,所有患者均有空腹性低血糖发作。只有 2 例患者存在恶性疾病,其中 1 例来自我们的系列。在无遗传综合征的患者中,在影像学检查中发现多个肿瘤,或在切除 1 个或多个肿瘤后仍有持续性或复发性低血糖的患者,术前可怀疑为胰岛细胞瘤病。在组织学和免疫组织化学检查下,通过对“大体正常胰腺”的检查,可明确诊断。我们的病例系列进一步证实了女性的明显优势、复发性低血糖的高频率,以及因此导致的对常规手术治疗的反应不佳。