Introduction: Ehlers-Danlos Syndrome (EDS) and Hypophosphatasia (HPP) are two distinct medical conditions with their own set of symptoms and complications. However, in some cases, there appears to be an overlap between the two disorders, leading to diagnostic challenges and potential implications for patient management. In this blog post, we will delve into the intersection of... Continue Reading →
What is Hypophosphatasia?
Hypophosphatasia (HPP) is a rare genetic disorder that affects bone and dental development. It is caused by mutations in the ALPL gene, which codes for the tissue-nonspecific alkaline phosphatase enzyme (TNSALP). TNSALP is involved in the mineralization of bones and teeth, and a deficiency of this enzyme can lead to a wide range of symptoms.... Continue Reading →
Hypophosphatasia: What is it?
October 30th is Hypophosphatasia Awareness Day and because I was recently diagnosed with this ultra-rare genetic disease I wanted to write two posts. One to go into detail about the disease using current research, and the second post about my own journey with the disease and diagnosis. Hypophosphatasia: Hypophosphatasia=HPP Alkaline Phosphatase= ALP Hypophosphatasia (HPP) is... Continue Reading →