What laboratory tests are indicated for primary hyperparathyroidism (PHPT) diagnosis?

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From the Guidelines

Primary hyperparathyroidism (PHPT) diagnosis is indicated by laboratory tests that measure serum calcium and serum parathyroid hormone (PTH) levels.

Indicated Laboratory Tests

  • Serum calcium: to assess for hypercalcemia, a key feature of PHPT 1
  • Serum PTH: to evaluate for elevated or inappropriately normal PTH levels, which are characteristic of PHPT 1

Importance of PTH Measurement

  • Accurate measurement of PTH is crucial for diagnosing PHPT, particularly in cases of normocalcemic primary hyperparathyroidism 1
  • PTH measurement can be performed using second- or third-generation assays, although third-generation assays may provide more accurate results in certain cases 1

Clinical Guidelines

  • The American Association of Endocrine Surgeons guideline for management of PHPT does not specify the type of PTH assay to use, while the international workshop on diagnosing asymptomatic PHPT recommends using assay-specific reference values 1
  • Clinical guidelines emphasize the importance of PTH measurement in the diagnostic workup of hypercalcemia and hypocalcemia, as well as in the analysis of secondary hyperparathyroidism 1

From the Research

Laboratory Tests for Primary Hyperparathyroidism (PHPT) Diagnosis

The diagnosis of primary hyperparathyroidism (PHPT) involves several laboratory tests to confirm the presence of the condition. These tests include:

  • Serum calcium levels: Hypercalcemia is a characteristic feature of PHPT 2, 3, 4
  • Parathyroid hormone (PTH) levels: Elevated or inappropriately normal PTH levels are indicative of PHPT 2, 3, 5, 6, 4
  • Phosphorus levels: Low phosphorus levels can be seen in PHPT due to the increased PTH levels 2
  • Vitamin D levels: Measurement of 25-hydroxyvitamin D levels is recommended, and treatment of vitamin D insufficiency is necessary 5, 6
  • Urinary calcium levels: Hypercalciuria can be seen in PHPT, and measurement of urinary calcium can help in diagnosis 2, 3
  • Alkaline phosphatase levels: Elevated alkaline phosphatase levels can indicate bone involvement in PHPT 2
  • Bone mass measurements: These can help assess the severity of hyperparathyroid bone disease 2
  • Genetic testing: DNA sequence testing can be useful in familial hyperparathyroidism or hypercalcemia 5, 6
  • Estimated glomerular filtration rate (eGFR): Measurement of eGFR can help determine kidney function in PHPT 6

Specialized Tests

In some cases, specialized tests may be necessary to confirm the diagnosis of PHPT, such as:

  • Oral calcium loading test: This test can help diagnose atypical forms of PHPT 3
  • Pro-FHH score: This score can help diagnose familial benign hypocalciuric hypercalcemia (FBHH) 3

References

1
Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

2
Research

Laboratory screening for hyperparathyroidism.

Clinica chimica acta; international journal of clinical chemistry, 2005

3
Research

Chapter 2: Primary Hyperparathyroidism: diagnosis.

Annales d'endocrinologie, 2025

4
Research

Primary hyperparathyroidism.

Nature reviews. Endocrinology, 2018

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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