Delay in the diagnosis of multiple endocrine neoplasia type 1: Typical symptoms are frequently overlo
Division of Diabetes, Endocrinology and Metabolism, Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.Endocrine Journal (Impact Factor: 2). 06/2012; 59(9):797-807. DOI: 10.1507/endocrj.EJ12-0071
The morbidity and mortality of individuals with multiple endocrine neoplasia type 1 (MEN1) can be reduced by early diagnosis of MEN1 and related endocrine tumors. To find factors contributing to early diagnosis, we collected clinical information on MEN1 patients through a MEN study group, "MEN Consortium of Japan" and analyzed the time of initial symptom-dependent detection of parathyroid tumors, gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) and pituitary tumors, and that of tumor detection-dependent MEN1 diagnosis in 560 patients. Main tumors were identified up to 7.0 years after symptoms appeared and there was no difference in age at the diagnosis of GEPNETs alone between probands and family members. In patients with typical symptoms (peptic ulcers, urolithiasis, fasting hypoglycemia, bone fracture/loss and amenorrhea), the mean interval between symptom manifestation and tumor detection was extended up to 9.6 years. In particular, 21.7% (5/23) of patients with amenorrhea were diagnosed with pituitary tumors in under one year. In patients with peptic ulcers (from parathyroid tumors or GEPNETs) and urolithiasis (from parathyroid tumors), the interval was positively correlated with age at tumor detection. The interval between tumor detection and MEN1 diagnosis was also prolonged to approximately four years in patients with fasting hypoglycemia (from GEPNETs) and amenorrhea. A substantial delay in the diagnosis of symptom-related tumors and subsequent MEN1 and inadequate screening of GEPNETs in family members were indicated. A greater understanding of MEN1 may assist medical practitioners to make earlier diagnoses, to share patients' medical information and to give family members sufficient disease information.
Article: The genetics of endocrine neoplasia[Show abstract] [Hide abstract]
ABSTRACT: The hereditary endocrine neoplasias are characterized by the development of benign or malignant tumors in more than one endocrine tissue. These tumors typically occur at a younger age than sporadic endocrine tumors and follow an autosomal dominant pattern of inheritance. Because of the age-related penetrance and extreme phenotypic variability both within and between families, clinicians cannot always rely on the family history to make the diagnosis. Recognition of the features of a hereditary endocrine syndrome can allow for appropriate and timely risk assessment, genetic counseling and genetic testing, and identification of at-risk family members who may benefit from early and regular screening.
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ABSTRACT: Functioning pancreaticoduodenal neuroendocrine tumors (PD-NETs) are popular in a textbook, but they are still unfamiliar to a general clinician, and delay of diagnosis or misdiagnosis has been reported even today. It is a consensus that sporadic functioning PD-NET is cured only by surgical resection. So, early detection and early resection is the gold standard for the treatment of functioning PD-NET. Functioning PD-NETs in patients with multiple endocrine neoplasia type 1 (MEN 1) are often multiple. You should check about MEN 1 whenever you encountered multiple PD-NET. They are diagnosed in younger age than sporadic cases. In most cases they are accompanied with numerous microscopic or macroscopic nonfunctioning P-NETs, which are potentially metastatic and the most common cause of death in MEN 1 patients. © Japanese Society of Hepato-Biliary-Pancreatic Surgery
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