Multiple endocrine neoplasia type 1 differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

Multiple endocrine neoplasia type 1 must be differentiated from other diseases that cause hyperparathyroiodism, gastric ulcers, and neurological symptoms such as von Hippel-Lindau syndrome, tuberous sclerosis, carney complex, neurofibromatosis type 1, Li-Fraumeni syndrome, multiple endocrine neoplasia type 2, familial hyperparathyroidism, pheochromocytoma and acromegaly.

Differential Diagnosis

Disease	Definition
von Hippel-Lindau syndrome	Autosomal dominant genetic disorder causing abnormal growth of blood vessels in different parts of the body.
Tuberous sclerosis	A rare multi-system genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin
Carney complex	Autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity.
Neurofibromatosis type 1
Li-Fraumeni syndrome
Gardner syndrome
Multiple endocrine neoplasia type 2
Cowden syndrome
Cushing's syndrome
Acromegaly/gigantism
Aldosteronoma
Pituitary adenoma
Hyperparathyroidism
Thyroid carcinoma
Pheochromocytoma/paraganglioma
Adrenocortical carcinoma
Adapted from Toledo SP, Lourenço DM, Toledo RA A differential diagnosis of inherited endocrine tumors and their tumor counterparts.