Differential Diagnosis for Elevated PTH and Calcium
Single Most Likely Diagnosis
- Primary Hyperparathyroidism: This condition is characterized by the excessive production of parathyroid hormone (PTH) by one or more parathyroid glands, leading to hypercalcemia. It is the most common cause of elevated PTH and calcium levels.
Other Likely Diagnoses
- Familial Hypocalciuric Hypercalcemia (FHH): A genetic disorder that affects the calcium-sensing receptor, leading to elevated PTH and calcium levels. It is similar to primary hyperparathyroidism but typically has a benign course.
- Lithium-Induced Hyperparathyroidism: Long-term lithium therapy can cause hyperparathyroidism, leading to elevated PTH and calcium levels.
- Vitamin D Intoxication: Excessive intake of vitamin D can lead to hypercalcemia and secondary hyperparathyroidism.
Do Not Miss Diagnoses
- Parathyroid Carcinoma: A rare but potentially life-threatening condition that can cause elevated PTH and calcium levels. Early diagnosis is crucial for treatment.
- Multiple Endocrine Neoplasia (MEN) Syndromes: Genetic disorders that can cause hyperparathyroidism, among other endocrine tumors. MEN syndromes can have significant implications for patient management and family screening.
- Hypercalcemia of Malignancy: Certain cancers, such as parathyroid hormone-related protein (PTHrP)-producing tumors, can cause elevated calcium levels. Identifying the underlying malignancy is critical for treatment.
Rare Diagnoses
- Teriparatide (PTH analogue) Therapy: Although rare, patients on teriparatide therapy for osteoporosis can have elevated PTH levels.
- Ectopic PTH-Producing Tumors: Rare tumors that produce PTH, such as ovarian or lung tumors, can cause hypercalcemia.
- Genetic Disorders Affecting the PTH Receptor or Signaling Pathway: Extremely rare conditions that can affect PTH signaling, leading to abnormal calcium and PTH levels.