Title: A prospective Study of Idiopathic Familial Hyperphosphatasia ''Juvenile Paget's Disease'' guide line of support diagnosis plus managements with different modalities of treatments depend on improvement criteria
Author: Ahmed Alkhuzai FICMS
DOI: https://dx.doi.org/10.18535/jmscr/v6i5.148
Abstract
Background: Idiopathic Hyperphosphatasia` (IFH, also known as juvenile Paget’s disease) is a rare genetic bone disease characterized by very high bone turnover and progressive bony deformity. Treatment by different medical modalities Have advantages to control this disease, as Inhibitors of bone resorption, plus suppression of bone turnover.
Aim of Study: We assess the clinical, diagnostic criteria, plus evaluation of treatment of this rare condition with different modalities of conservative and required surgical procedures. Advantages in control these diseases and prevention the development of deformity and disability, were evaluated on improvement criteria.
Materials and Methods: A prospective descriptive study was performed on five cases of Familial Idiopathic Hyperphosphatasia, patients in the study A; 10 years age, from Baghdad B; also, from Baghdad, the sister of patient A, 7 years age, C; 8 years age girl from Anbar, D; 11 years girl from Wasit, E; 9 years age boy from Sulaimaniyah. They were from Different Cities of Iraq. Presented with progressive deformities, progressive hearing loss deafness, cranial enlargement, teeth loss, long bone fractures. Also, with diagnostic radiological changes plus biochemical abnormalities, in form persistent elevated ALK. Alkaline Phosphatase, PTH Parathyroid Hormone, with drop in Vitamin D3 level. Also, they have bone biopsy change. These criteria with different treatment modalities improved the diagnosis plus managements. We have different treatment modalities; Synthetic Calcitonin, Bisphosphonate, Sodium Etidronate, pamidronate, cholcalciferol. We used the Synthetic Calcitonin therapy daily 100mg once daily as conservative preventive measure, plus cholcalciferol. The surgical Orthopaedic treatment in form fixation of the fractures when happen, Stapling of Epiphysis as Hemiepiphyseal Stapling for Knee joint correction of the deformities in Children for prevention the progressiveness of long bone deformity. We used Calcitonin injection therapy, plus cholcalciferol, was given to arrest progression of the skeletal deformities of the disease. Growth and development, pure tone audiometry, biochemistry, radiology, densitometry (DXA), and bone histology were monitored.
Results: All patients with FIH cases were treated by Calcitonin subcutaneous injection of 100 mg daily as subcutaneous injection, therapy was given over 6 months with continuous follow up until skeletal maturity. Treatment was well tolerated, and the biochemical markers of bone turnover suppressed to within the age-appropriate normal range After 3 consecutive months. Improvement Criteria; Child become more Active- Less Irritable, Can't Sit Without Assistance, Formation of Discrete Cortex in Long Bones, Drop Level of Alkaline Phosphatase, Inhibition of Osteocytic Osteolysis Leading to Normal Lamellar Bone. The plasma ALP activity was suppressed to 295 U/liter, with continue to drop down continuously. However, before treatment the level was 480-677 U/L for these five patients. Radiography before treatment, there were marked spinal osteoporosis with vertebral biconcavity and a marked upper thoracic kyphoscoliosis. There was little improvement in vertebral shape, but no crush fractures occurred, also there was some progression of thoracic kyphosis for all cases without significant value. However, they had no further fractures occurred over the 3-yearsperiod happen during treatment, and all five IFH Idiopathic Familial Hyperphosphatasia remained mobile and active during performing daily activities, with improvement in skeletal development, plus preventing progressiveness of long bone deformities.
Conclusions: We have concluded that subcutaneous daily injectable Calcitonin therapy treatment can efficiently prevent the development of deformity, and disability, plus improvement in the hearing in children efficiently with IFH, also improvement in general condition, the child become more active, the dose of subcutaneous daily injectable Calcitonin therapy greater than usual doses were used in pediatric bone disease, with no adverse effects, in particular on bone mineralization.
Keywords: IFH; Idiopathic Familial Hyperphosphatasia, juvenile Paget’s disease, bisphosphonates.
