Members of rare families may have an elevated total serum alkaline phosphatase level with no evidence of underlying disease. Someone with familial hyperphosphatasemia may undergo unnecessary testing.
Features:
(1) persistent elevation of serum alkaline phosphatase
(2) no evidence of underlying disease after a careful clinical evaluation
(3) presence of a similar condition in other family members
(4) no evidence of an underlying disease during a long-term follow-up
Conditions to be excluded:
(1) liver disease
(2) bone disease
(3) occult neoplasia
(4) pregnancy
(5) lung disease
Isoenzyme profiling can help to identify a source. Some families produce the intestinal isoenzyme but other organ-specific isoenzymes may be produced.
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