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Table 1 HPP-related manifestations/events considered to contribute to the clinical burden of HPP

From: Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Manifestation/event Description
Premature tooth loss Premature loss of primary and/or permanent teeth
Cranial abnormalities Craniosynostosis, frontal bossing, large anterior fontanel, decreased skull ossification, increased intracranial pressure, hydrocephalus
Gross motor/ambulation difficulties Difficulty walking, gait disturbance, need for mobility devices including wheelchair, other mobility impacts, inability to work or impairment of activities of daily living
Surgery Any HPP-related surgery (including extremity, cranial, dental, spinal, and other [thoracoscopic epiphysiodesis, osteotomy, tracheostomy])
Other dental complications Delayed eruption of teeth, abnormality of the dentition, severe periodontitis, and atrophy of alveolar ridges
Fractures Bone fractures, including pseudofracture and stress fracture
Pain Bone, joint, muscle, and nonspecific/generalized pain
Respiratory symptoms Respiratory compromise, pulmonary hypoplasia, respiratory failure, recurrent respiratory tract infections, and need for respiratory support
Hospitalizations Hospitalization for any cause
Kidney complications Nephrocalcinosis or renal insufficiency
Seizures Vitamin B6-responsive seizures, seizures of unknown origin and any neurological symptom
Psychological Depressivity, anxiety, insomnia, or other
  1. HPP-related manifestations and events considered to contribute to the clinical burden of HPP were identified by four clinical experts who had experience in treating patients with HPP
  2. HPP hypophosphatasia