It is normal for people with different health conditions to experience edema, or swelling, when inflammation is present. For individuals with Hereditary Angioedema or HAE the swelling is significant and can be life threatening. There is no cure at this time for the extreme swelling that is the symptom of the disease but there are ways that patients in Charlotte, NC can manage the condition.
Onset and Symptoms
It is important to realize that Hereditary Angioedema, while typically found within families, can also occur spontaneously in a family with no known history of the disease. This is because HAE is caused by a genetic mutation in the C1-inhibitor protein that results in uncontrolled protein production and fluid release that causes the characteristic swelling. This type of mutation, while rare, can occur and then become hereditary to that person’s children.
Typically the symptoms of HAE are seen in childhood and become worse during puberty, pregnancy, trauma, stress, surgery or when concurrent medical conditions are present. It can also become more problematic with the use of specific medications resulting in more lengthy and frequent attacks of swelling.
Swelling with Hereditary Angioedema can impact the face, limbs, gastrointestinal tract and the throat. It is often accompanied by vomiting, diarrhea, abdominal cramping and difficulty with breathing and speaking.
Diagnosis and Treatment of Hereditary Angioedema in Charlotte, NC
Both blood and genetic tests are typically used to confirm the diagnosis of HAE. There are three different types of HAE that are diagnosed based on the C1-INH levels determined through the laboratory tests.
Treatment of the disease includes both emergency treatment during an attack and preventative treatment options. Patients in Charlotte, NC will work with their treatment team to identify the early signs of an attack so they can get immediate medical help. Preventative plans for Hereditary Angioedema can include the use of androgens, C1-INH therapy and, in very limited cases, the use of antifibrinolytics.