Endocrine Abstracts

Sixty six year old gentleman was referred to clinic with hypercalcaemia. He suffered with low mood, “funny turns”, nocturia and loose stools with urgency to open bowels. He appeared tanned but no increase pigmentation in skin folds. There was no palpable lymphadenopathy or neck lump. The calcium levels were around three with low normal PTH of 3.7 (2.8 on repeat). He had not developed any complications like osteoporosis, fracture or renal stones secondary to hypercalcaemia. He had extensive investigations for his symptoms and hypercalcaemia.

Investigations- Calcium excretion index 25.9(<22 for FHH) and 24 h urine calcium was mid normal range at 6.23(repeat 5.32). Full blood count, renal function and liver function were normal with slightly raised plasma viscosity of 1.99. The myeloma screen was negative. Vitamin D and TSH was in normal range. Chest X-ray was showed no mass or enlarged mediastinal lymph nodes. Ultrasound and MIBI scan did not identify any parathyroid adenoma.

Other - 9 AM cortisol was 485. Faecal elastase and tissue transglutaminase were normal. No abnormality identified in colonoscopy. 24 h tape showed sinus rhythm. Urinary catecholamines were normal. CT scan of head, neck, chest, abdomen and pelvis did not reveal any cause for hypercalcaemia.

Since no conclusive cause was identified for his hypercalcaemia, genetic test were done to investigate for Familial Hypocalciuric Hypercalcaemia. The results confirmed the diagnosis and the patient was informed. It was explained to him that it had no implications for his long term health and does not require investigations in future.

This is an interesting case as urine calcium was NOT low which is not typical for Familial Hypocalciuric Hypercalcaemia; hence genetic test was done. It also a good case for learning as it highlights the investigations that need to be done to rule out other conditions which cause hypercalcaemia.