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I n t e r n a t i o n a l C o n f e r e n c e o n
Physicians, Surgeons and
Case Reports
November 19-20 , 2018
Par i s , France
Medical Case Reports
ISSN: 2471-8041
PSCR 2018
Introduction:
A 46 year old female was referred to the metabolic medicine
clinic for evaluation. She was referred via her general practitioner with
persistently low alkaline phosphatase (ALP) levels which were first noticed
during an occupational medical assessment. There was no personal history
of fractures or arthritis and no family history of fractures or dental issues.
Commonly considered conditions associated with low serum ALP include
coeliac disease, micronutrient deficiency, Wilson’s disease, drug therapy,
anaemia and hypothyroidism.
Results:
On review, serum ALP was noted to be chronically between 15-20 IU/L
(reference range 30-130 IU/L) and this had been the case for as far back as
results were available which was preceding 13 years. Laboratory testing for
freeT4 andTSHwere normal. In addition, tests for serumcopper, ceruloplasmin
levels, tissue transglutaminase antibodies, vitamin B12, folate and magnesium
levels were all also unremarkable. Zinc was had been previously low but she
had been started on supplementation and levels had normalised by the time
of review. Serum vitamin D was mildly low at 59 nmol/L (reference range is
75-200 nmol/L) and supplementation did not affect her low serum ALP levels.
X-ray imaging of the knees revealed no evidence of chondrocalcinosis. Serum
pyridoxal phosphate levels were elevated at 161.4 nmol/L (reference range
35-110 nmol/L) and also combined with low alkaline phosphatase which
was suggestive of primary hereditary hypophosphatasia. This patient was
referred to a tertiary centre, and urinary phosphoethanolamine was deemed
unnecessary, since it is often normal in patients with hypophosphatasia. This
patient went on to be referred for genetic testing and family screening.
Conclusion:
Primary hereditary hypophosphatasia was initially considered to
be an unlikely diagnosis for this patient since she had been asymptomatic and
did not present with the typical bony symptoms or complications. Monitoring
is usually recommended in patients with primary hereditary hypophosphatasia
and thus, recognition of the condition can have important implications for
patients and their families. Therefore, although uncommon, it is a key diagnosis
to bear in mind.
Biography
Janet Bolaji has completed her BSc in Physiology at King’s
College London in addition to her primary medical qualification
from Swansea University. She completed her Foundation
Training at Frimley Park Hospital and St Helier Hospital. Her
rotations included Chemical Pathology and General Medicine.
She has an interest in Endocrinology and Nutritional Medicine
and is furthering this interest by completing a Masters’ degree
at University College London (UCL). She also has an interest in
medical education and enjoys organising teaching sessions for
medical students.
janetbolaji@yahoo.comAn uncommon cause of low serum alkaline phosphatase (ALP)
Janet Bolaji and Tim Wang
Frimley Park Hospital, UK
Janet Bolaji et al., Med Case Rep. 2018, Volume:4
DOI: 10.21767/2471-8041-C2-005