1. If Hoofbeats are not From Horses, It Could be Zebras!! Isolated Hyper-alkaline Phosphatasemia
- Author
-
Paul J. Thuluvath, Mahak Chauhan, David H. Alpers, and James P. Hamilton
- Subjects
medicine.medical_specialty ,Hepatology ,business.industry ,Membrane bound enzyme ,Case Report ,medicine.disease ,Gastroenterology ,MRCP - Magnetic resonance cholangiopancreatography ,Elevated alkaline phosphatase ,03 medical and health sciences ,Hyperphosphatemia ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Internal medicine ,medicine ,Alkaline phosphatase ,030211 gastroenterology & hepatology ,Isoenzyme electrophoresis ,PSC - Primary sclerosing cholangitis ,medicine.symptom ,Differential diagnosis ,business - Abstract
Alkaline phosphatase (AP) is a membrane bound enzyme and when it is elevated in blood, it is mostly due to either hepatobiliary or bone diseases. We report isolated intestinal hyperphosphatasemia (IAP) in two sisters. Both sisters presented with identical trends of isolated AP elevation. Both underwent extensive workup for liver diseases including cholangiograms, and none was identified. Subsequent isoenzyme electrophoresis showed that 45%-56% of the elevated AP was due to IAP. This elevation of the intestinal AP is consistent with a rare hereditary biochemical abnormality, benign familial intestinal hyperphosphatemia. This condition should be considered in the differential diagnosis of otherwise isolated serum AP levels to avoid unnecessary investigations.
- Published
- 2020