Around 24.000 Spaniards could suffer hypophosphatasia without knowing it, according to a study
Around 24.000 Spaniards could suffer hypophosphatasia without knowing it, according to the data of a study, published in the scientific journal 'Scientific Reports' of the Nature group', carried out by researchers from the CIBER of Frailty and Healthy Aging (CIBERFES) in the Biosanitary Research Institute of Granada.
This has been made clear in the 'online' Conference of the Spanish Association of Inherited Rickets and Osteomalacia (AERyOH) that has been held recently, where the experts have considered it necessary to draw the attention of the National Health System (SNS), since that rickets "continues to exist and its detection at an early age is essential" to ensure adequate treatment.
Next Saturday, October 30, the International Day of Hypophosphatasia (HPP) is commemorated, which is a disease classified as "ultra rare", as AERyOH has pointed out.
The group of researchers has observed that 62 percent of patients with alkaline phosphatase levels below the normal range are carriers of a mutation in the gene encoding FANET. However, early detection programs have not yet been launched, which is why the researcher Beatriz García has branded the disease as "underdiagnosed".
"This study shows that it is essential to establish a correct clinical evaluation to make an adequate diagnosis of this disorder and provide correct treatment to affected patients," he added.
For this reason, the organization, in the words of its president Sonia Fernández, has stressed that the administration "must guarantee access to innovative drugs and a multidisciplinary health team." In addition, he has pointed out that it is necessary for people with rickets to have access to a degree of disability, incapacity or dependency.