Medicines for DiGeorge syndrome

What it is

DiGeorge syndrome, also known as 22q11 deletion syndrome, is a genetic condition caused by a small missing piece (deletion) of chromosome 22. It is one of the more common chromosome deletion syndromes, though still relatively uncommon overall. The missing genetic material affects the development of several parts of the body, and — importantly — the condition is very variable, so its features and their severity differ greatly from person to person, even within the same family; some people are significantly affected in several ways, while others have only mild features. The features can involve many different systems, and can include: heart problems (congenital heart conditions, which are common and can be significant, and are one of the important features); effects on the immune system (as the condition can affect the thymus, a gland important for immunity, making some people more prone to infections); low calcium levels (due to effects on the parathyroid glands); a cleft palate or other palate and feeding problems; particular facial features; learning and developmental difficulties, and, in some, mental health or behavioural conditions; kidney and other physical differences; and other associated features. Because DiGeorge syndrome can affect so many systems, and so variably, it is managed by identifying which features an individual has, and monitoring for and treating each aspect — for example, treating heart problems, managing immune and calcium issues, addressing palate and feeding problems, and supporting development and learning — with care coordinated across the relevant specialists. It is a lifelong condition, and while some features are significant, many can be treated or managed, and with appropriate care and support, many people with DiGeorge syndrome do well, with care tailored to their individual needs. The key messages are that DiGeorge syndrome is a genetic condition from a missing piece of chromosome 22, with varied effects on the heart, immune system, development, and other areas, and that it is managed by monitoring for and treating each aspect with coordinated specialist care.

How it is treated

DiGeorge syndrome is managed by identifying which features an individual has, monitoring for and treating each aspect, and coordinating care across the relevant specialists; because it is so variable, care is highly individualised. Diagnosis is confirmed by genetic testing (which detects the 22q11 deletion), and may be prompted by particular features (such as a heart problem, low calcium, palate problems, recurrent infections, or developmental concerns) or a family history. Once diagnosed, an important part of care is assessing which of the possible features are present in that individual, and monitoring for those that may develop, so that each can be managed appropriately. Management is therefore multidisciplinary and tailored, and may include: treating heart problems (congenital heart conditions, which are common and may need specialist cardiac care and sometimes surgery); monitoring and managing the immune system (as some people are more prone to infections, and immune function is assessed and supported, with attention to infections and vaccinations, guided by specialists); managing calcium levels (treating low calcium, which can occur, and monitoring it); addressing palate and feeding problems (such as a cleft palate, with specialist and surgical care and feeding support); supporting development and learning (with educational and developmental support tailored to the individual); supporting mental health and behaviour (as some people develop mental health or behavioural conditions, which can be supported and treated); and managing kidney or other physical features as relevant. Care is coordinated across the specialists involved, and monitored over time, as needs can change with age. Support for the person and family — practical, emotional, and educational — is important, given the range of possible needs, and support organisations provide information and community. Genetic counselling is offered, as DiGeorge syndrome is genetic, to discuss the condition, inheritance, and family planning; it can be inherited or arise as a new deletion. Because the condition is so variable, and many features are treatable or manageable, care focuses on the individual’s specific needs, and, with appropriate care and support, many people do well. The reassuring messages are that DiGeorge syndrome, although a lifelong genetic condition affecting multiple systems variably, is managed by identifying and treating each affected aspect with coordinated specialist care, that many features can be treated or managed, and that support for the person and family, and genetic counselling, are part of care; so individualised, multidisciplinary care is the key to managing the condition.