High Fracture Rates in Young Patients with Phenylketonuria

Response to the Letter to the Editor Regarding “Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria”

“…Hansen et al [2] state that the fracture prevalence in our population is twice as high as that reported in other studies, referring to Choukair et al [4] report that 24/56 patients (43%) have had a fracture at least once in their lifetime. Importantly, this is comparable to the percentage reported by us [1], even though they describe a population with mainly adult patients.…”

“…First of all, Hansen et al [2] state that our conclusions concerning fracture prevalence are inappropriate. We understand their concern because unfortunately our publication refers to the wrong reference.…”

“…In this manner, you can most adequately compare outcomes of individuals with their peers (same age and gender) and use these outcomes to asses which patients are deviant from the norm. The use of BMD in g/cm 2 would not be adequate in our population -first because of the patient characteristics (relatively small number and heterogeneity in age and gender) and second because we needed to know which patients had a Z-score below -2 to assess if any of them had osteopenia/osteoporosis based on the recommendations of the ISCD [7].…”

“…Third, and finally, Hansen et al [2] ask for the number of our patients with Zscores below -2 based on the measured site.…”

Análise da densidade mineral óssea em pacientes com fenilcetonúria e sua correlação com parâmetros nutricionais

“…Este mesmo estudo, contudo, observou que as taxas de fraturas ao longo da vida em indivíduos com PKU se assemelham às de indivíduos normais. Hansen et al 21 sugerem que a análise da ocorrência de fraturas deve ser realizada em indivíduos com e sem PKU pareados por idade e sexo, considerando que a taxa de ocorrência de fraturas e o motivo pelo qual ocorrem difere entre indivíduos jovens e adultos, bem como a taxa de ocorrência de fraturas em homens é maior do que em mulheres.…”