Heritable forms of primary hyperparathyroidism: a current perspective

Area of Science:

• Endocrinology
• Pathology
• Genetics

Background:

• Primary hyperparathyroidism (PHPT) is a frequent endocrine disorder.
• Sporadic cases comprise 85% adenomas, 10-15% hyperplasia, and <1% carcinoma.
• Heritable PHPT forms, often presenting as endocrine syndromes, pose diagnostic challenges.

Purpose of the Study:

• To review clinicopathological features, genetics, and management of PHPT.
• Focus on PHPT associated with MEN types 1, 2A, 4, and HPT-JT syndrome.
• Incorporate the 2017 WHO Classification of Endocrine Organ Tumours.

Main Methods:

• Literature review and synthesis of current knowledge.
• Analysis of clinicopathological and genetic data.
• Discussion of familial isolated hyperparathyroidism, familial hypocalciuric hypercalcaemia, and neonatal severe hyperparathyroidism.

Main Results:

• Detailed description of sporadic and heritable PHPT subtypes.
• Emphasis on the pathologist's role in identifying heritable syndromes.
• Integration of WHO classification for accurate diagnosis.

Conclusions:

• Understanding heritable PHPT syndromes is crucial for pathologists.
• Early identification aids in managing potential extra-endocrine manifestations.
• This review provides guidance for diagnosing and managing complex PHPT cases.