Musculoskeletal complications in sickle cell disease: Pathophysiology, diagnosis and management

Area of Science:

• Hematology
• Orthopedics
• Genetics

Background:

• Sickle cell disease (SCD) is a monogenic disorder characterized by chronic hemolysis, anemia, and vaso-occlusion.
• SCD leads to significant musculoskeletal complications, including osteonecrosis, osteoporosis, and fractures, affecting 50-70% of patients.
• These bone complications arise from complex genetic and physiological factors like abnormal hemoglobin, chronic inflammation, and oxidative stress.

Purpose of the Study:

• To review the pathophysiology, symptoms, and clinical manifestations of musculoskeletal complications in SCD.
• To discuss current and emerging treatment strategies for SCD-related bone issues.
• To highlight the importance of early diagnosis and multidisciplinary care.

Main Methods:

• Literature review focusing on pathophysiology, clinical presentation, and treatment of musculoskeletal complications in SCD.
• Analysis of current pharmacological, surgical, and supportive interventions.
• Identification of future research directions.

Main Results:

• Musculoskeletal complications are prevalent in SCD, impacting bone integrity and patient mobility.
• A range of treatments exist, including analgesics, anti-inflammatory agents, bone-modifying agents, hydroxyurea, and surgical procedures.
• Supportive measures and multidisciplinary care are vital for enhancing well-being.

Conclusions:

• Early detection of pre-clinical symptoms is crucial for preventing the progression of bone damage in SCD.
• A comprehensive, multidisciplinary approach integrating pharmacological and surgical interventions is essential for optimal patient care.
• Future research should focus on targeted therapies, biomarkers, and infrastructure development to improve outcomes for SCD patients with bone complications.