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Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia

Eri Ogawa1, Kazuhiro Shimura2, Hiroshi Yoshihashi3

  • 1Department of Pediatric Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Pediatric Neurology
|March 18, 2022
PubMed

Insights

Regular asfotase alfa treatment is crucial for preventing seizure exacerbation in children with hypophosphatasia (HPP). Interrupting this therapy can lead to severe neurological complications, highlighting the need for consistent administration.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Hypophosphatasia (HPP) is an inherited metabolic disorder caused by ALPL gene mutations, impacting bone, teeth, and central nervous system (CNS) function.
  • Vitamin B6-responsive seizures are a known CNS manifestation of HPP.
  • Asfotase alfa primarily addresses skeletal issues, with no prior reports of seizure exacerbation upon its interruption.

Observation:

  • A pediatric patient with severe perinatal HPP experienced seizure exacerbation, including status epilepticus and encephalopathy, after irregular asfotase alfa injections.
  • These seizure events consistently correlated with low serum alkaline phosphatase (ALP) activity following treatment interruptions.
  • The patient's ALPL genotype-phenotype correlation in the Japanese population suggested a predictable risk for seizure exacerbation.

Findings:

  • Asfotase alfa interruption in HPP patients can precipitate CNS complications, specifically seizure exacerbation.
  • Serum ALP activity serves as a critical therapeutic marker for monitoring HPP management.
  • Consistent asfotase alfa administration is essential for maintaining seizure control and preventing neurological decline.

Implications:

  • Emphasizes the critical role of continuous asfotase alfa therapy in managing HPP, particularly for preventing neurological sequelae.
  • Highlights the importance of patient and family education regarding adherence to treatment protocols.
  • Suggests that genotype-phenotype correlations can aid in predicting and managing HPP complications.
Abstract

Keywords:
Appropriate serum ALP activityAsfotase alfa interruptionGenotype-phenotype correlationPerinatal severe hypophosphatasia

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