The Clinical Aspects of Hypophosphatasia

Abstract

OBJECTIVES: The purpose of this research is to educate the dental community on the effects of hypophosphatasia and the clinical manifestations it presents throughout the body and the oral cavity.

METHODS: Hypophosphatasia is a rare inherited metabolic disorder that has a wide spectrum of disease presentation. Due to 300 types of ALP mutations, HPP has six different major forms: perinatal lethal, prenatal benign, infantile, childhood, adulthood, and odotohypophosphatasia. There are clinical signs presented throughout the body and the oral cavity. Premature exfoliation of primary dentition is the first clinical sign of hypophosphatasia in childhood. Two different studies were reviewed in order to compare similar symptoms of hypophosphatasia.

RESULTS: In one case study there were 38 patients who reported similar symptoms. In 15 (39%) of the patients a history of fractures was present. In the same study 21 (55%) of the patients had recurring headaches, 4 (11%) of the patients experienced severe muscle weakness, 23 (61%) experienced recurring muscle pain, and 18 (47%) of the patients exhibited dental abnormalities. In another case study there were 9 patients that reported only dental signs of hypophosphatasia. Dental signs of HPP were shown in childhood in 8 (88%) of the patients. The premature loss of the primary dentition was shown in 7 (77%) of the patients, absent primary dentition in 1 (11%) of the patients, and delayed loss of primary teeth in 1 (11%) of the patients.

CONCLUSIONS: Since hypophosphatasia is so rare, more studies are needed on the diagnosis, preventative methods, and treatments. The majority of HPP cases are diagnosed in adulthood which ensures the disorder could have been present during childhood and was overlooked. In order to diagnose the disorder promptly, there should be a thorough medical history and clinical signs must be evaluated. There is no cure or long term prognosis for the hypophosphatasia disorder.