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 BOF 75

 

   

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BOF: 75

A 54 year old female presents with a history of feeling tired and lethargic. She also complained of difficulty in climbing stairs and of rising from the seated position.

There was no other history of note. She was on a statin as her GP had found her to have a high cholesterol level about a year prior to this presentation.

On examination she looked reasonably well there were a few excoriations noted on her skin and when questioned about this she admitted to an itch. She had xanthelasma on her lower eyelids, she had hepatosplenomegaly.

Investigations

Hb 12 g/dL

WBC 9.5 x109/L

Platelets 90

Sodium 136 mmol/L

Potassium 4.2 mmol/l

Urea 8 mmol/L

Bilirubin 52 Ámol/L

ALT 52 U/L

Alkaline phosphatase 420 U/L

Corrected calcium 1.9 mmol/L

Phosphate 0.6 mmol/L

Creatinine kinase 160 U/L

In this patient which one of the following tests is likely to give you the underlying diagnosis?

a)      PTH level

b)      Vitamin D levels

c)      Tissue transglutaminase antibody

d)     Anti mitochondrial antibody

e)      Anti Neutrophil Cytoplasmic Antibody

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