Summary of Primary Hyperparathyroidism (PHPT)

• Primary hyperparathyroidism (PHPT):
  • Is a relatively common disorder:
    • That affects 0.3% of the human population:
      • Most commonly women:
      • 75% of the cases
• The exact cause of PHPT:
  • Is unknown
• In 85% to 90% of patients:
  • Only a single adenoma is present
• Multiple adenomas or hyperplasia:
  • Can be present in up to 15% to 20% of the cases:
    • Doble adenomas:
      • 6% to 9% of the cases
    • Triple adenomas:
      • Less than 0.3% of the cases
    • Hyperplasia:
      • 3% of the cases
• Patients with PHPT:
  • Can have symptomatic disease:
    • 95% of the cases
  • “Asymptomatic” disease:
    • 5% of the cases
• Some degree of renal dysfunction:
  • Is present in up to 80% of patients
  • Nephrolithiasis, however, is far less common:
    • With an incidence of approximately 15% to 25%
• The clinical manifestations of PHPT:
  • Vary widely across patients:
    • But if a detailed history is taken:
      • Many will complain of polydipsia and polyuria:
        • From the calciuresis associated with the disease
• Although PHPT occurs sporadically in the majority of patients:
  • In a small percentage it is part of a familial syndrome:
    • Multiple endocrine neoplasia type I (MEN-I / Werner Syndrome):
      • Results from a germline mutation in the Menin gene:
        • Located on chromosome 11q12-13
      • Patients with MEN-I are susceptible to the development of:
        • Pancreatic neuroendocrine tumors
        • Pituitary adenomas
        • PHPT
    • MEN-IIA (Sipple Syndrome):
      • Is an autosomal dominantly inherited condition:
        • Caused by a germline mutation on chromosome 11:
          • That is associated with:
            • PHPT
            • Pheochromocytoma
            • Medullary thyroid cancer
    • Patients with familial jaw tumor syndrome:
      • Have a higher risk for the development of:
        • Parathyroid carcinoma
    • Familial hypercalcemic hypocalciuria:
      • Is associated with an:
        • Elevated calcium levels and low urinary excretion of calcium
      • The primary defect is the abnormal sensing of calcium in blood:
        • By the calcium sensing receptor (CaSR):
          • In the the parathyroid glands (chief cells) and the renal tubules:
            • Which causes:
              • Inappropriate secretion of PTH
              • Excessive renal reabsorption of calcium

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