Researchers at the ibs.GRANADA develop a protocol for the effective detection of hypophosphatasia, a rare bone disease
About 15.000 Spaniards could suffer from this genetic disease that causes chronic pain and recurrent fractures in adults and not be aware of it
Researchers from the San Cecilio University Hospital (Endocrinology and Nutrition, Clinical Analysis and Pediatrics), the Biosanitary Research Institute of Granada, the University of Granada and GENYO have developed a protocol to detect hypophosphatasia. Through the study, carried out within the Center for Biomedical Research Network on Frailty and Healthy Aging (CIBERFES), the proportion of people affected with this disease can be evaluated and two new genetic mutations associated with it have been identified, which have been validated through bioinformatics studies and in vitro assays at the cellular level.
Hypophosphatasia (PPH) is a rare bone disease caused by one or more mutations in the gene encoding alkaline phosphatase (ALPL). Its diagnosis is commonly confused with other ailments and, according to research, almost half of patients are not correctly diagnosed. In fact, extrapolating the data to the Spanish population, there could be up to 15.000 potential cases currently undetected.
Granada-based researchers Cristina and Beatriz García Fontana state that this study, published in Scientific Reports, "demonstrates that a correct clinical evaluation is essential to properly diagnose this disorder and provide appropriate treatment to affected patients." Due to its low prevalence, this metabolic disorder is often underdiagnosed and confused with more common bone disorders such as osteoporosis, leading to erroneous treatments that could worsen the prognosis.
Researchers from the group led by Dr. Manuel Muñoz Torres, specialist in Endocrinology at Hospital San Cecilio, head of the Precision Medicine area at ibs.GRANADA and professor at the Department of Medicine at the University of Granada, estimate that the prevalence in Spain could be double that described in previous studies. In the study carried out, the serum levels of alkaline phosphatase were evaluated in 78.590 patients (76.083 adults and 2.507 children).
Among the adult population, 1.907 people with alkaline phosphatase (ALPL) levels below the reference range were identified and after studying the medical records of each patient, those subjects who did not meet the criteria established in the protocol proposed in This studio. Finally, out of 56 people selected, a total of 16 agreed to participate in the study, 81% women, the majority asymptomatic or with mild symptoms but never previously diagnosed with this ailment.
"Using the protocol described in our study, we found that 7 of the 16 patients were affected by hypophosphatasia, indicating that almost half of the study population was not correctly diagnosed in routine clinical practice," says Dr. García Fontana. Extrapolating these data to the current Spanish population, there could be 4.000 potential cases of hypophosphatasia currently undiagnosed, although the number could be many more.
"Taking into account the proportion of potential patients who did not participate in the study for various reasons (71%), and based on our results, the current estimate of possible undetected cases of PPH in Spain could reach 15.000," explain the Granada researchers. This implies that the estimated prevalence of mild hypophosphatasia in our country would be double that previously published for Europe.
