From the Guidelines
DiGeorge syndrome is a genetic disorder that requires a multidisciplinary approach for management, including cardiac repair, immune system support, and calcium supplementation, with early diagnosis through genetic testing being crucial for optimal outcomes. This condition, also known as 22q11.2 deletion syndrome, affects multiple body systems and occurs in approximately 1 in 4,000 births 1. It is characterized by a triad of congenital heart defects, immune system deficiencies due to thymus gland abnormalities, and low calcium levels from parathyroid gland problems. Patients typically present with distinctive facial features, including a long face, small ears, wide-set eyes, and a small jaw.
Clinical Features and Management
The severity of DiGeorge syndrome varies widely between individuals, with some having mild symptoms while others experience life-threatening complications. Management requires a comprehensive approach, addressing specific symptoms:
- Cardiac defects often need surgical repair
- Immune deficiencies may require thymus transplantation or immunoglobulin replacement
- Calcium supplements with vitamin D are given for hypocalcemia Early intervention services help address developmental delays and learning disabilities that commonly occur. Speech therapy is often needed for palate abnormalities.
Importance of Early Diagnosis
Early diagnosis through genetic testing is crucial for optimal outcomes, as prompt treatment of each affected system can significantly improve quality of life and prevent complications 1. The variable phenotype of 22q11.2DS often presents a significant diagnostic challenge to clinicians, and many adults with a 22q11.2 deletion remain undiagnosed. Therefore, awareness of the condition and its vast phenotypic spectrum is essential for providing optimal anticipatory care.
Multidisciplinary Approach
The multisystem nature of the associated features and potential side effects of treatment demand attention by all clinicians, regardless of their subspecialty. A multidisciplinary approach, including geneticists, cardiologists, immunologists, endocrinologists, and speech therapists, is necessary to address the complex needs of patients with DiGeorge syndrome. By prioritizing early diagnosis and comprehensive management, healthcare providers can significantly improve the quality of life and outcomes for individuals with this condition.
From the Research
Definition and Characteristics of DiGeorge Syndrome
- DiGeorge Syndrome (DGS) is a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life 2.
- It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia 2, 3.
- The syndrome is caused by a chromosomal microdeletion at 22q11.2, which results in impaired development of the pharyngeal pouch system 4, 5.
Clinical Features and Diagnosis
- Patients with DGS may have developmental abnormalities of craniofacial structures, parathyroid glands, thymus, and cardiac outflow tract 4.
- The clinical features of DGS include conotruncal malformation, facial abnormalities, hypocalcemia, and low lymphocyte count 2.
- Diagnosis of DGS can be confirmed by detecting the 22q11.2 deletion, and it is essential to suspect DGS in patients presenting with heart defects, facial abnormalities, and immunological disorders 2, 3.
Incidence and Management
- The incidence of DGS is estimated to be 1:3000 live births 2.
- Management of DGS requires a multidisciplinary approach involving pediatrics, general medicine, surgery, psychiatry, psychology, and genetic counseling 5.
- Early diagnosis, preferably prenatally or neonatally, could improve outcomes, and universal screening is essential for timely detection and treatment 5.
Immunodeficiency and Treatment Options
- The immunological competence of individuals with DGS is highly variable, ranging from normal to severe combined immunodeficiency when there is complete athymia 6.
- Correction of the immunodeficiency can be achieved using thymus allografts, which can support thymopoiesis even in the absence of donor-recipient matching at the major histocompatibility loci 6.