Hypophosphatasia

Hypophosphatasia is one of many disorders that resemble oseogenisis imperfecta, also known as “Brittle Bone Disease”. A mutation in the gene that codes for tissue-nonspecific alkaline phosphatase, or ALP, is believed to be the cause. That is the central hostile regulator for bone mineralization. The patient who has Hypophosphatasia receives one defective gene from each parent. (Hypophosphatasia, eMedicine) Males, females, and all races are equally affected. Incidence has been rated at one per ever 100,000 births. However, it is thought that one out of every 300 individuals is a carrier of Hypophosphatasia without showing any symptoms of having the full – out disease. (Hypophosphatasia, eMedicine) Symptoms of hypophosphatasia include short limbs, dwarfism, small rib cage, irritability, seizures, and poorly formed teeth. Some of the more complicated symptoms include rachitic rosary, anemia, hypercalcemia, and nephrocalcinosis. Rachitic rosary is when there is a row of beading at the crossing of the rib cage. Anemia is when there are a reduced number of red blood cells in the patient’s blood. Hypercalcemia simply means there is a raised blood calcium level. Lastly, nephrocalcinosis is characterized by calcium salt deposits in the kidneys. Formal diagnosis criteria have not yet been established, however all forms of Hypophosphatasia share in common a reduced activity unfractionated serum alkaline phosphatase. A presence of on or two pathologic mutations in ALPL is also common. Laboratory testing is also performed and all laboratory evaluations include testing of calcium, phosphorus, magnesium, alkaline phosphate, creatinine, parathyroid hormone, and Vitamin D levels. (Hypophosphatasia, Etienne Mornet) Diagnosis is also largely sustained by measuring ALP levels in the blood. ALP level in Hypophosphatasia patients is low. It is important that doctors keep the age of the patient in mind when measuring these levels.

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