Pathophysiology

Pathophysiology

P-I-13. Menopause & osteoporosis, Case 1

閉経と骨粗鱬症 症例1

A 56-year-old woman is complaining of fatigue, which has been gradually increasing for approximately half a year. Three months ago high blood pressure was detected, for which she is taking ACE-inhibitors. A gastroscopy that was performed because of her stomach pain showed focal erosion in different areas of the gastric mucosa, for which a proton pump inhibiting treatment was recommended. A negative result for Helicobacter pylori was obtained from a histological sample. The patient’s anamnesis also contained an episode of nephrolithiasis.

Physical examination: Height: 162 cm. Weight: 50 kg. RR: 142/90 Hgmm.

Blood:

  • ESR: 20 mm/h
  • CRP: 6 mg/L
  • RBC: 4.68 T/L
  • haemoglobin: 144 g/L
  • haematocrit: 0.42
  • Na⁺: 142 mmol/L
  • K⁺: 4.1 mmol/L
  • Ca²⁺: 2.8 mmol/L
  • PO₄³⁻: 0.6 mmol/L
  • albumin: 38 g/L
  • 25(OH) vitamin D level: 34 ng/mL (20-40 ng/mL)
  • creatinine: 122 µmol/L
  • eGFR: > 90 ml/min
  • ASAT: 30 U/L
  • ALAT: 22 U/L
  • ALP: 450 U/L
  • GGT: 40 U/L

Urine:

  • protein: negative
  • glucose: negative
  • specific gravity: 1018 g/L

Urine sediment:

  • WBC: 2/hpf
  • RBC: 4/hpf
  • star-shaped crystals

DEXA scan:

  • lumbar spine T-score: -2.8
  • hip T-score: -2.5

Key Quotes & What They Tell Us

Quote / Value Interpretation
Ca²⁺ 2.8 mmol/L (high); PO₄³⁻ 0.6 mmol/L (low) Hypercalcaemia with hypophosphataemia — the biochemical signature of primary hyperparathyroidism (PTH drives Ca up, phosphate down)
ALP 450 U/L (high) Increased bone turnover/resorption from excess PTH
“episode of nephrolithiasis”; urine “star-shaped crystals” Hypercalciuria → calcium-containing kidney stones
“focal erosion … of the gastric mucosa” with negative H. pylori Hypercalcaemia stimulates gastrin/acid → peptic erosions (“abdominal groans”)
“fatigue”; newly detected hypertension (RR 142/90) Non-specific hypercalcaemia symptoms; hypercalcaemia can contribute to hypertension
25(OH) vitamin D 34 ng/mL (normal); eGFR > 90 Normal vitamin D and renal function exclude deficiency/CKD as the cause → points to primary, not secondary, hyperparathyroidism
DEXA lumbar T -2.8, hip T -2.5 Osteoporosis (T ≤ -2.5) from chronic PTH-driven bone resorption

Key Points

  • Diagnosis: Primary hyperparathyroidism (excess PTH, typically a parathyroid adenoma).
  • Biochemistry: Hypercalcaemia + hypophosphataemia + raised ALP, with normal vitamin D and renal function.
  • Classic triad: “Stones, bones, and abdominal groans” — kidney stones, osteoporosis/bone pain, and peptic/GI symptoms.
  • Pathophysiology: PTH increases bone resorption, renal calcium reabsorption, and vitamin-D activation → hypercalcaemia and bone loss.
  • Contrast: Differs from postmenopausal osteoporosis (normal calcium) and secondary hyperparathyroidism (low calcium, renal failure).

一問一答

What is the biochemical signature of primary hyperparathyroidism?

Hypercalcemia with hypophosphatemia (PTH drives calcium up and phosphate down).

What is the classic clinical triad of primary hyperparathyroidism?

Stones, bones, and abdominal groans — kidney stones, osteoporosis/bone pain, and peptic/GI symptoms.

What are the three main actions of PTH that produce hypercalcemia?

Increased bone resorption, increased renal calcium reabsorption, and increased vitamin-D activation (boosting gut calcium absorption).

Why is ALP elevated (450 U/L) in Case 1?

Increased bone turnover/resorption from excess PTH raises alkaline phosphatase.

In the Case 1 patient (high Ca²⁺, low PO₄³⁻, osteoporosis, kidney stones), what is the diagnosis?

Primary hyperparathyroidism (excess PTH, typically from a parathyroid adenoma).

Why does the patient develop kidney stones in Case 1?

Hypercalciuria from hypercalcemia promotes calcium-containing kidney stones (seen as star-shaped crystals).

Why does the patient have gastric erosions despite negative H. pylori?

Hypercalcemia stimulates gastrin and acid secretion, causing peptic erosions (the 'abdominal groans').

How do normal vitamin D and eGFR help localize the diagnosis in Case 1?

They exclude vitamin D deficiency and CKD, pointing to primary (not secondary) hyperparathyroidism.

What DEXA T-score defines osteoporosis, and what were the patient's values?

T-score ≤ -2.5 defines osteoporosis; lumbar T was -2.8 and hip T was -2.5.

How does primary hyperparathyroidism cause bone loss?

Chronic excess PTH drives sustained osteoclastic bone resorption, reducing bone density.

How does the calcium/phosphate pattern of primary hyperparathyroidism differ from secondary?

Primary: high calcium, low phosphate. Secondary (CKD): low/normal calcium, high phosphate.

What is the most common cause of primary hyperparathyroidism?

A solitary parathyroid adenoma.

What general (non-specific) symptoms of hypercalcemia did the Case 1 patient have?

Fatigue, and contributory hypertension.

Why does PTH lower serum phosphate?

PTH reduces renal phosphate reabsorption (phosphaturic effect), lowering serum phosphate.

How does primary hyperparathyroidism differ from postmenopausal osteoporosis on labs?

Primary hyperparathyroidism has hypercalcemia; postmenopausal osteoporosis has normal calcium.

What confirmatory hormone test is expected in primary hyperparathyroidism?

An inappropriately elevated (or non-suppressed) PTH level in the face of hypercalcemia.

What is the definitive treatment for symptomatic primary hyperparathyroidism?

Surgical removal of the overactive parathyroid gland (parathyroidectomy).

Why might calcium be measured alongside albumin in hypercalcemia workup?

Because calcium is partly protein-bound; albumin is needed to correct/interpret total calcium.

What is the cardinal cause of nephrolithiasis in hyperparathyroidism?

Hypercalciuria leading to calcium-based stone formation.

Why can hypercalcemia cause neuropsychiatric and GI symptoms?

Elevated calcium depresses neuromuscular excitability and alters GI/CNS function, causing fatigue, constipation, and peptic symptoms.