What is the management approach for DiGeorge syndrome?

Management Approach for DiGeorge Syndrome

The management of DiGeorge syndrome requires a comprehensive, multidisciplinary approach addressing the various organ systems affected by the 22q11.2 deletion, with coordinated care focusing on cardiac, immunological, endocrine, developmental, and psychiatric manifestations to optimize health outcomes and quality of life. 1, 2

Diagnostic Considerations

• Genetic Testing:

  • Chromosomal Microarray Analysis (CMA) is preferred with 94% detection rate 2
  • FISH testing can be used if CMA unavailable (85% detection rate) 2
  • Testing should be offered to first-degree relatives 2

• Clinical Features to Evaluate:

  • Cardiac defects (present in ~80% of infant diagnoses) 2
  • Immunodeficiency from thymic hypoplasia/aplasia 2
  • Hypoparathyroidism with hypocalcemia 2
  • Craniofacial abnormalities (present in 97% of cases) 3
  • Neurological/developmental issues (present in 86.1% of cases) 3

System-Specific Management

Cardiac Management

• Evaluate for conotruncal defects (tetralogy of Fallot, interrupted aortic arch, truncus arteriosus) 2
• Surgical repair of cardiac anomalies as indicated 2
• Implement lifelong cardiac monitoring 2
• Screen first-degree relatives for cardiac abnormalities 2

Immunological Management

• Assess immune function with lymphocyte counts and immunoglobulin levels 2
• Evaluate safety for live viral vaccines 2
• Monitor for humoral deficiency 2
• Consider immunoglobulin replacement therapy in cases of significant deficiency 2
• Note that CD4 lymphopenia is more common than CD8 lymphopenia 3

Endocrine Management

• Monitor calcium levels for hypocalcemia due to hypoparathyroidism 2
• Treat hypocalcemia with calcium and vitamin D supplementation 1
• Screen for thyroid dysfunction 1
• Monitor growth and development 1

Developmental and Psychiatric Management

• Conduct formal neuropsychological testing (median IQ ~76) 2
• Reassess at key developmental transition periods 2
• Implement standard management for treatable psychiatric conditions 2
• Be vigilant for increased risk of psychiatric disorders 2

Additional System Management

• Musculoskeletal:

  • Routine scoliosis screening (present in 50% of patients) 2
  • One-time screening for cervical spinal anomalies 2
  • Radiographs for suspected patellar dislocation 2

• Hematological:

  • Yearly complete blood counts 2
  • Careful perioperative monitoring 2
  • Monitor for thrombocytopenia 2

Age-Specific Considerations

Pediatric Management

• Coordinate multidisciplinary evaluations 1
• Provide family-centered care and support 1
• Implement preventive management of developmental issues 1
• Periodic assessments to identify new or anticipated features 1

Adult Management

• Transition planning with identification of adult practitioners 2
• Consider legal guardianship if appropriate 2
• Create portable health care summaries 2
• Continue surveillance for late-onset manifestations 1

Common Pitfalls and Caveats

• Diagnostic Challenges: DiGeorge syndrome is often underdiagnosed, particularly in adults born before routine genetic testing became available 4
• Variable Expressivity: Significant variability in clinical presentation requires individualized management plans 3
• Severity Markers: Hypocalcemia, congenital cardiac anomalies, and T-cell lymphopenia are indicators of more severe disease 3
• Accumulating Features: Clinical manifestations may increase over time, requiring ongoing surveillance 2
• Mortality Risk: Complete athymia carries high mortality without intervention 2

Monitoring Recommendations

• Regular follow-up with specialists based on affected systems
• Annual/biennial assessments as outlined in guidelines 1
• Vigilance for new manifestations throughout the lifespan 1
• Transition planning from pediatric to adult care 2

The comprehensive management of DiGeorge syndrome requires coordination between multiple specialists, with early diagnosis allowing for better anticipatory care and improved outcomes 2.