Pancreatitis as the first manifestation of multiple endocrine neoplasia type 2A

• Published in: Arquivos brasileiros de endocrinologia e metabologia 2008-11, Vol.52 (8), p.1332-1336
• Main Authors: Dora, José Miguel, Siqueira, Débora Rodrigues, Meyer, Erika L Souza, Puñales, Márcia Khaled, Maia, Ana Luiza
• Format: Article
• Language: English
• Subjects: Acute Disease; Calcium - blood; ENDOCRINOLOGY & METABOLISM; Germ-Line Mutation - genetics; Humans; Hyperparathyroidism, Primary - complications; Male; Middle Aged; Multiple Endocrine Neoplasia Type 2a - complications; Pancreatitis - diagnosis; Pancreatitis - etiology; Proto-Oncogene Proteins c-ret - genetics
• ISSN: 0004-2730; 1677-9487; 1677-9487; 0004-2730
• DOI: 10.1590/S0004-27302008000800021

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant inherited condition that predisposes to the triad of medullary thyroid cancer (MTC), pheochromocytoma (Pheo), and primary hyperparathyroidism (PHT). Nearly 100% of MEN2A are associated with germ line mutation of the RET proto-oncogene (RET), and DNA-based RET genotype analysis is now considered essential for earlier diagnosis. The first manifestation of MEN2A is most often due to MTC, and less frequently to Pheo. Rarely, MEN2A is recognized during the search for PHT associated conditions. Most patients with primary hyperparathyroidism are asymptomatic, and the focus of the presentation may be the side effects of chronic hypercalcemia, osteoporosis, renal lithiasis, peptic ulcer disease, and hypertension. Hypercalcemic pancreatitis is rare, being an uncommon first manifestation of PHT. Here, we report on a patient who presented recurrent pancreatitis as the first manifestation of MEN2A. In the present case, prompt sequential dosage of calcium, diagnosis of PHT, and genetic analysis would have resulted in pancreatitis prevention and early MEN2A management.