Familial endocrine adenomatoses (FEAs) refer to a group of inherited disorders characterized by the development of multiple benign or malignant tumors known as adenomas in the endocrine glands. These endocrine glands include the pituitary gland, parathyroid glands, adrenal glands, and pancreas, among others.
FEAs are typically caused by genetic mutations, which are passed down from one generation to another within a family. Different types of FEAs have been identified, and each type is associated with specific glandular involvement and distinct clinical features. Some well-known examples of FEAs include multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2), and familial isolated pituitary adenomas (FIPA).
Individuals affected by FEAs may exhibit various signs and symptoms depending on the specific glands involved. These can include overproduction of certain hormones, such as parathyroid hormone, growth hormone, or adrenal hormones, leading to hormonal imbalances and associated clinical features. Diagnosis of FEAs often involves comprehensive family history evaluation, clinical examination, imaging studies, and genetic testing to detect and identify the specific genetic mutation causing the disorder.
Treatment of FEAs often involves a multidisciplinary approach, with interventions tailored to the specific glands involved and associated hormonal imbalances. Medical management, surgical removal of tumors, radiotherapy, and hormone replacement therapy are some of the commonly employed strategies to address complications and improve the quality of life for individuals affected by FEAs. Regular monitoring and screening for tumor recurrence are also crucial to ensure early detection and timely intervention in affected individuals and their at-risk family members.
