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18.02.2020 | main topic

Treatment of hypophosphatasia

verfasst von: Dr. Sebastian Simon, Prim. Univ.-Prof. Dr. Heinrich Resch

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 5-6/2020

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Summary

Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading on the one hand to decreased activity of the TNSALP enzyme, and on the other hand to accumulation of TNSALP substrates. Symptoms like non-traumatic and non-healing fractures, musculoskeletal pain, chondrocalcinosis, seizures, premature loss of fully rooted teeth or delayed development of milk teeth, respiratory insufficiency, and calcinosis in muscles, kidneys, and joints occur. Supportive treatment is important for HPP patients, including mechanical ventilation, accurate fracture treatment, physical therapy, dental monitoring, and follow-up care to avoid subsequent problems. A causal enzyme therapy replacement with asfotase-alfa was approved by the Food and Drug Administration (FDA) in 2015. Asfotase-alfa improves respiratory insufficiency, bone mineralization, and long-term survival, and has a very good safety profile.
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Metadaten
Titel
Treatment of hypophosphatasia
verfasst von
Dr. Sebastian Simon
Prim. Univ.-Prof. Dr. Heinrich Resch
Publikationsdatum
18.02.2020
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 5-6/2020
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-020-00736-3

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