A 16 yr old female presented with generalized weakness and easy fatigability since 2 months. Her medical history included that she had
sickle cell disease (ss pattern) on regular treatment. She denied smoking and consumption of alcohol. She had adequate
calcium intake and her menstrual history was non-contributory. History of right tibial diaphysial fracture 1 year back followed by refracture at the same site 6 months later. On examination patient was 146 cm tall & weighed 48 kg. She had pallor, blue-grey sclera,
scar mark of previous operation on right leg. Her mother and two maternal aunts also had blue-gray sclera. She had normal dentition and other systems were normal. Radiological screening showed diffuse
osteopenia of all visualized skeleton, biconcave vertebral bodies in lumbar spine, Old healed fracture of right tibial diaphysis with intra-medullary nail in situ, wormian bones seen along the lambdoid
suture, old healed fracture with
sclerosis noted involving diaphysis of first metatarsal. Secondary causes of
osteoporosis were ruled out. Skeletal involvement is
sickle cell disease is usually in the form of avascular
necrosis, dactylitis, joint effusions or
osteomyelitis however
osteoporosis and long
bone fractures are not known in
sickle cell disease. Owing to high index of suspicion a diagnosis of
osteogenesis imperfecta was pursued, since the patient presented at 16 years age with relatively minor symptoms
type 1A osteogenesis imperfecta (mildest form) was established. Systemic screening for disease complications included osteopontogram, audiogram and consultation with ophthalmologist and geneticist.
Therapy with
calcium and vit D was initiated and an in depth discussion regarding biphosphonates was pursued. Anaemia was corrected with
blood transfusion and treatment of
sickle cell disease was continued. Family screening was offered. Fractures particularly adults older than 45 are associated with
osteoporosis. This case illustrates the importance of family history, fracture history and clinical correlation when assessing patients with
osteoporosis. Mild OI most often presents after infancy and should be considered whenever children or adults have recurrent fractures. Early diagnosis of this disease by family physicians will enable initiation of
therapy as well as patients education regarding management of modifiable risk factors linked with
osteoporosis (e.g. diet, smoking, alcohol). Genetic counseling and family screening could also be offered.