Sickle cell disease with osteogenesis imperfecta

Area of Science:

• Genetics
• Orthopedics
• Pediatrics

Background:

• Sickle cell disease typically presents with avascular necrosis, dactylitis, or osteomyelitis, not osteoporosis or long bone fractures.
• Osteoporosis and recurrent fractures in adolescents warrant investigation for underlying genetic conditions beyond sickle cell disease.

Observation:

• A 16-year-old female with sickle cell disease presented with generalized weakness, easy fatigability, and a history of tibial refractures.
• Clinical examination revealed blue-grey sclera, diffuse osteopenia, biconcave vertebral bodies, and healed fractures, with a positive family history of blue-grey sclera.

Findings:

• Radiological screening confirmed diffuse osteopenia, biconcave vertebrae, healed long bone fractures, and wormian bones, ruling out secondary causes of osteoporosis.
• The patient was diagnosed with Type 1A osteogenesis imperfecta (OI), the mildest form, despite her concurrent sickle cell disease.

Implications:

• This case underscores the importance of considering osteogenesis imperfecta in patients with recurrent fractures, even those with other chronic conditions like sickle cell disease.
• Early diagnosis of mild OI by family physicians enables timely initiation of therapy, patient education on modifiable risk factors, and genetic counseling for affected families.