Puig-Jové Carlos, García Pascual Luis, Perea Verónica, Quirós Carmen, Simó-Servat Andreu, Barahona María-José
Endocrinology and Nutrition Department, Hospital Universitari Mútua Terrassa, Terrassa 08221, Spain.
JCEM Case Rep. 2025 Apr 18;3(6):luaf082. doi: 10.1210/jcemcr/luaf082. eCollection 2025 Jun.
Familial paraganglioma syndrome (FPS) is a rare genetic disorder characterized by the development of paragangliomas (PGLs) and pheochromocytomas (PCCs). Here, we describe the case of a 42-year-old man with a family history of FPS, who presented with episodic chest pain and was diagnosed with acute coronary syndrome secondary to cardiac PGL-induced vasospasm. A thorough review of the family history confirmed several cases of PGLs and PCCs in the immediate family circle. A pathogenic variant in the succinate dehydrogenase () gene was revealed, elucidating the hereditary nature of the condition. Subsequent gallium (Ga)-edotreotide positron emission tomography confirmed the presence of multiple lesions with increased uptake consistent with PGLs, including 2 primary cardiac PGLs that may have accounted for a coronary vasospasm due to the secretion of catecholamines.
家族性副神经节瘤综合征（FPS）是一种罕见的遗传性疾病，其特征为副神经节瘤（PGLs）和嗜铬细胞瘤（PCCs）的发生。在此，我们描述了一名有FPS家族史的42岁男性病例，该患者出现发作性胸痛，被诊断为继发于心脏PGL诱导的血管痉挛的急性冠状动脉综合征。对家族史的全面回顾证实，直系亲属中有几例PGLs和PCCs病例。发现琥珀酸脱氢酶（）基因存在致病性变异，阐明了该病的遗传性质。随后的镓（Ga）-奥曲肽正电子发射断层扫描证实存在多个摄取增加的病变，与PGLs一致，包括2个原发性心脏PGLs，可能由于儿茶酚胺分泌导致冠状动脉痉挛。
