The portal for rare diseases and orphan drugs

The exact prevalence is unknown but several hundreds of cases have been reported in the literature so far.

Onset usually occurs in the prepubertal period, between 8 and 12 years of age. The first sign of IJO is usually pain in the lower back, hips and feet. Knee and ankle pain, kyphosis, loss of height and a sunken chest may also be present. Low bone mineral density, vertebral collapse and metaphyseal compression fractures of the long bones are common.

The etiology of idiopathic juvenile osteoporosis remains unknown.

Diagnosis is based on clinical presentation, skeletal X-rays and bone density tests (dual-energy X-ray absorptiometry, dual photon absorptiometry and quantitative computed tomography).

Osteogenesis imperfecta (see this term) is the main differential diagnosis.

Management is aimed at protecting the spine and other bones from fracture. Physical therapy and exercise (avoiding weight-bearing activities), and other supportive measures are mandatory. There is no established treatment strategy. Treatments with calcium and/or vitamin D, fluoride, calcitonin, and bisphosphonates (in severe, long-lasting cases) have been reported with unequivocal efficacy.

The disease is self-limiting with spontaneous resolution after the onset of puberty. Rarely, in more severe cases, permanent disability (kyphoscoliosis and rib deformity) can develop.