CHENNAI: Hereditary angioedema (HAE) is a rare, genetic disorder that affects approximately 1 in 50,000 people worldwide. It is characterised by episodes of swelling in various parts of the body, including the face, throat, abdomen, and extremities. These episodes can be sudden and severe and may be accompanied by pain, nausea, and vomiting.
HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein (C1 esterase inhibitor deficiency) which plays a critical role in regulating the body’s immune response and preventing inflammation.
Because HAE is an inherited disorder, it often runs in families. If one parent has HAE, there is a 50 per cent chance that their children will inherit the condition.
However, because HAE is rare and often misdiagnosed, many people may not realise they have the condition until they experience a severe episode of swelling. This can lead to delayed diagnosis and treatment, which can have serious consequences.
Diagnosis
Early diagnosis of HAE is crucial for several reasons. First, it allows individuals to better understand their condition and the potential risks associated with it.
This knowledge can help them make informed decisions about their healthcare and take steps to manage their symptoms. Second, early diagnosis can lead to earlier treatment, which can help prevent or minimise the severity of swelling episodes.
Third, early diagnosis can help prevent unnecessary procedures and treatments, as HAE can often be mistaken for other conditions, such as allergies or gastrointestinal disorders.
Genetic counselling
Genetic counselling is also an important component of HAE management. It can help individuals and their families understand the inheritance pattern of the condition and the risk of passing it on to future generations. It can also provide guidance on family planning and the use of assisted reproductive technologies to reduce the risk of passing it on.
Treatment
Prophylactic treatment is another key component of HAE management. It involves the regular use of medications to prevent swelling episodes. These medications can include C1 inhibitor replacement therapy, which replaces the missing or dysfunctional protein, and certain medications that block the activity of specific enzymes involved in the inflammatory process.
Prophylactic treatment can help reduce the frequency and severity of swelling episodes, as well as improve the quality of life for individuals.
In addition to prophylactic treatment, several other strategies can help manage HAE symptoms.
These include avoiding triggers, such as stress or certain medications. It is also important to have an emergency plan in place in case of a severe swelling episode, which may include the use of self-administered medications, such as epinephrine, and seeking medical attention as soon as possible.
Though a rare genetic disorder which can have serious consequences, early diagnosis, receiving appropriate treatment, and avoiding unnecessary procedures and treatments can help manage HAE.
Overall, a multidisciplinary approach is necessary for the effective management of HAE, involving patients, healthcare providers, and genetic counsellors.
The writer is an hematologist and hematologic oncologist, Aster Medcity