Sunday, 30 June 2013

The Acromegaly That Wasn't

One of the most challenging cases I have ever been asked about was regarding a 31 year old Caucasian man. When he walked into the Rheumatology clinic, referred by his GP with arthralgias and a raised, fluctuating CK, even the junior doctors felt he was a straightforward case of acromegaly. He had the classical facies, a large tongue that he felt was "growing" and tingling in his hands. CK fluctuated between 270 and 2000, yet muscle power, EMG and muscle biopsy were normal, as were numerous tests for metabolic myopathy.

He also reported more than one episode of near loss of consciousness. He saw the neurologists with this, who felt this was syncope. A tilt table test showed a sharp drop in BP while upright, associated with tachycardia.

Baseline IGF-1 and timed levels of Growth Hormone after stimulation with glucose were normal. MRI of pituitary revealed a microadenoma.

ECG was not done.

Echo was reported as normal. However, when you looked at the detail, the LV size was the upper limit of notmal, the left atrium was dilated and the E:A ratio at the mitral inlet was at the upper limit of normal at 1.48.

Nerve conduction studies showed no evidence of entrapment neuropathy at the wrist. Autoimmune screen, including every conceivable autoantibody in the book, was negative. Inflammatory parameters were normal.

Can you suggest a diagnosis?

Tuesday, 18 June 2013

A Young Man With Hypercalcaemia

A 32 year old man is referred by his GP with hypercalcaemia. Corrected serum calcium is 2.75 mmol/l (11 mg/dl). Serum PTH is raised at 105 pg/ml (normally up to~70). Serum phosphate is normal. Serum 25(OH)D levels are at the upper limit of normal. Chest Xray is normal, as is a myeloma screen. Alkaline phosphatase is not raised. Renal function is normal, with an egfr of >90 ml/min.

What's the likely diagnosis?

Saturday, 8 June 2013

Trivial Signs?

I recently saw a middle aged man with a swelling at the base of his left middle finger. Just that. Nothing else. He didn't even have much pain. His GP had sent him to Rheumatology because he couldn't explain the symptoms.

He looked well. The left middle MCP was swollen. All other joints were normal. He had had lots of bloods in primary care, including FBC, U&Es, LFTs, ESR, CRP, Rheumatoid factor- all normal. A plain X-ray had revealed an odd looking cyst in the head of the 3rd metacarpal, but all else was normal.

There was no history of trauma.

Thoughts?