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 µmol/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