According to a new study, 15,000 Spaniards could suffer from a rare hereditary bone disease without knowing it

Some 15,000 Spaniards may not know they have rare bone hypophosphatasia, according to a new study published in Scientific Reports and conducted by a group of scientists from the CIBERFES research group and the University of Granada (UGR).

In fact, the researchers have created a new protocol to better detect hypophosphatasia, a rare metabolic bone disease that can also be fatal.

The researchers have discovered two new genetic mutations that can be associated with this disease, which at the diagnostic stage can be confused with other bone diseases such as osteoporosis.

By extrapolating the data from the database they analyzed, based on 78,590 patients, the researchers concluded that there could be several thousand Spaniards, between 4000 and 15000, who could be affected by this disease without knowing it.

Hypophosphatasia can lead to loss of bone mineralization and increased risk of fracture, as well as chronic pain. In children or infants (pituitary gland in childhood), it can be even more severe, leading to premature death, brain damage and respiratory problems.

This hereditary disease is potentially life-threatening, difficult to diagnose and is caused by several genetic code mutations for alkaline phosphatase (ALPL).

LINKS AND SOURCES

https://medicalxpress.com/news/2019-10-spaniards-unaware-rare-bone-disease.html

https://www.nature.com/articles/s41598-019-46004-2

IMAGE CREDIT

https://www.sciencemag.org/sites/default/files/styles/article_main_large/public/images/sn-fibrodysplasia.jpg?itok=087nRrYY