Frontiers in endocrinology · 2026
Prevalence of clinical manifestations among patients with hypophosphatasia in Central and Eastern European countries.
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Kužma M, Payer J, Petrovič R, Bandura A, Szegedi M, Dzivite-Krišane I, Žerjav Tanšek M, Haschka J, Resch H, Kocijan R
Аннотация
MINI-ABSTRACT: Hypophosphatasia (HPP) is a rare systemic disorder with impaired bone mineralization. In 49 Central and Eastern European patients, chronic pain, fractures, deformities, and calcifying periarthritis were frequent. Most had low TN-ALP; only one received asfotase alfa. Findings highlight underdiagnosis, high symptom burden, and need for improved care.
INTRODUCTION: Hypophosphatasia (HPP) is a rare, potentially life-threatening, progressive, systemic, inherited metabolic disorder caused by loss-of-function variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).HPP is a multi-organ disease, with its hallmark feature impaired bone mineralization.
AIM: The objective of this study was to evaluate the prevalence of HPP in the Central and Eastern European (CEE) region and to assess the frequency of its clinical manifestations.
PATIENTS AND METHODS: A cross-sectional study was conducted on 49 patients with clinically and genetically confirmed HPP. Detailed clinical information was available for 34 patients from five CEE countries.
RESULTS: The analyzed cohort consisted of 14 males and 20 females, with a mean age of 51 years, regardless onset. A total of 33 patients (97%) exhibited TN-ALP levels below the reference range. Only one patient received treatment with asfotase alfa. Chronic musculoskeletal pain was reported by 25 patients (73%), while tooth loss, fractures, and bone deformities were observed in 26%, 44%, and 18% patients, respectively. One patient had a bone mineral density (BMD) in the osteoporotic range, and three patients had a trabecular bone score (TBS) ≤1.23. Other clinical manifestations included calcifying periarthritis (7 patients), seizures (3), nephrocalcinosis (3), hypercalcemia (3), kidney stones (2), ectopic calcifications (1), and pseudogout (1).
CONCLUSION: This study, based on one of the largest reported cohorts of HPP patients, highlights that chronic pain is the most prevalent symptom. Bone-related complications, such as fractures and deformities, and joint-related conditions, particularly calcifying periarthritis, are also frequent. These findings emphasize the need for greater awareness of HPP, along with dedicated research efforts to enhance patient care and improve access to effective treatments.
INTRODUCTION: Hypophosphatasia (HPP) is a rare, potentially life-threatening, progressive, systemic, inherited metabolic disorder caused by loss-of-function variants in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP).HPP is a multi-organ disease, with its hallmark feature impaired bone mineralization.
AIM: The objective of this study was to evaluate the prevalence of HPP in the Central and Eastern European (CEE) region and to assess the frequency of its clinical manifestations.
PATIENTS AND METHODS: A cross-sectional study was conducted on 49 patients with clinically and genetically confirmed HPP. Detailed clinical information was available for 34 patients from five CEE countries.
RESULTS: The analyzed cohort consisted of 14 males and 20 females, with a mean age of 51 years, regardless onset. A total of 33 patients (97%) exhibited TN-ALP levels below the reference range. Only one patient received treatment with asfotase alfa. Chronic musculoskeletal pain was reported by 25 patients (73%), while tooth loss, fractures, and bone deformities were observed in 26%, 44%, and 18% patients, respectively. One patient had a bone mineral density (BMD) in the osteoporotic range, and three patients had a trabecular bone score (TBS) ≤1.23. Other clinical manifestations included calcifying periarthritis (7 patients), seizures (3), nephrocalcinosis (3), hypercalcemia (3), kidney stones (2), ectopic calcifications (1), and pseudogout (1).
CONCLUSION: This study, based on one of the largest reported cohorts of HPP patients, highlights that chronic pain is the most prevalent symptom. Bone-related complications, such as fractures and deformities, and joint-related conditions, particularly calcifying periarthritis, are also frequent. These findings emphasize the need for greater awareness of HPP, along with dedicated research efforts to enhance patient care and improve access to effective treatments.