Understanding Inheritance of Hypophosphatasia
Hypophosphatasia (HPP) is a genetic disorder that can affect both men and women equally. It is classified as an autosomal disorder, which means it can be inherited through any chromosome other than the sex chromosomes. The inheritance pattern of HPP varies depending on the subtype.
Perinatal and infantile HPP are typically inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. On the other hand, childhood HPP, adult HPP, and odontohypophosphatasia can be inherited in either an autosomal recessive or dominant manner.
Diagnosing the exact number of individuals affected by HPP worldwide is challenging. This is because mild cases of HPP often go undiagnosed or are misdiagnosed as other bone diseases, especially when the symptoms are minor or resemble those of another condition.
Diagnosing Hypophosphatasia
Hypophosphatasia (HPP) can be diagnosed using various methods by physicians. One of the methods involves the use of ultrasounds, which enable technicians to observe skeletal changes associated with prenatal and perinatal HPP. Another common way HPP is discovered is through dental examinations, as dentists often notice the premature loss of deciduous baby teeth. Additionally, a standard comprehensive metabolic panel, consisting of 14 blood tests, can be utilized to identify one of the key indicators of HPP. This panel assesses the levels of alkaline phosphatase enzyme activity in the blood, which is typically low in individuals with HPP.