What is the prevalence of Hypophosphatasia?
How many people does Hypophosphatasia affect? Does it have the same prevalence in men and women? And in the different countries?
Hypophosphatasia is a rare genetic disorder characterized by low levels of an enzyme called alkaline phosphatase. It affects approximately 1 in every 100,000 to 300,000 live births worldwide. The prevalence of this condition varies among different populations and ethnicities. Hypophosphatasia can manifest in various forms, ranging from mild to severe, and can affect individuals of all ages. Early diagnosis and appropriate management are crucial for improving outcomes and quality of life for those affected by this condition.
Hypophosphatasia is a rare genetic disorder characterized by the abnormal development of bones and teeth. It is caused by mutations in the ALPL gene, which leads to a deficiency of an enzyme called alkaline phosphatase. The prevalence of Hypophosphatasia varies depending on the specific type and population studied.
Perinatal Hypophosphatasia, the most severe form, is estimated to occur in approximately 1 in 100,000 to 1 in 300,000 live births. This form is often fatal shortly after birth due to respiratory complications.
Infantile Hypophosphatasia, which presents in the first six months of life, has a prevalence of around 1 in 100,000 to 1 in 300,000 live births. It can lead to skeletal abnormalities, respiratory problems, and a high risk of mortality.
Juvenile and adult forms of Hypophosphatasia are milder and have a higher prevalence. The estimated prevalence for these forms ranges from 1 in 6,370 to 1 in 27,000 individuals.
It is important to note that these prevalence figures are approximate and can vary across different populations and studies. Early diagnosis and appropriate management are crucial for individuals affected by Hypophosphatasia to improve their quality of life and prevent complications.
