Which are the symptoms of Hereditary Angioedema?

Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling in various parts of the body. It is caused by a deficiency or dysfunction of a protein called C1 esterase inhibitor (C1-INH), which plays a crucial role in regulating inflammation and preventing excessive swelling.

The symptoms of HAE can vary in severity and may manifest differently among individuals. However, there are several common signs that can help identify the presence of this condition. It is important to note that symptoms typically begin during childhood or adolescence and may worsen over time.

Swelling Attacks

The hallmark symptom of HAE is recurrent swelling attacks, also known as angioedema. These attacks can occur in various parts of the body, including the face, extremities, gastrointestinal tract, and genitals. The swelling typically develops over a period of several hours and can last for 1-5 days. The affected areas may become visibly swollen, red, and warm to the touch. The swelling is often painful and can cause discomfort or difficulty in performing daily activities.

Facial Swelling

Facial swelling is a common manifestation of HAE and can be particularly distressing for individuals. The swelling may affect the lips, tongue, cheeks, or eyelids, leading to a distorted appearance. In some cases, the swelling can be severe and may even obstruct the airways, posing a risk to breathing and requiring immediate medical attention.

Abdominal Symptoms

HAE can also cause abdominal symptoms, which can mimic other gastrointestinal conditions. These symptoms may include severe abdominal pain, cramping, nausea, vomiting, and diarrhea. The pain is often described as colicky and can last for several hours or days. Abdominal attacks can be debilitating and may lead to significant disruption of daily life.

Swelling of Extremities

Swelling in the extremities, such as the hands, feet, arms, or legs, is another common symptom of HAE. The swelling can be asymmetric and may affect one or both sides of the body. It is often accompanied by pain, warmth, and a feeling of tightness or heaviness in the affected area. The swelling can limit mobility and make it challenging to perform tasks that require manual dexterity.

Genital Swelling

In some cases, HAE can cause swelling in the genital region. This can lead to discomfort, pain, and difficulty with urination or sexual activity. Genital swelling attacks can be particularly distressing and may significantly impact the quality of life for individuals affected by HAE.

Other Symptoms

Apart from the characteristic swelling attacks, individuals with HAE may experience other symptoms, although they are less common. These may include headache, fatigue, muscle aches, joint pain, and a general feeling of malaise. These symptoms are typically associated with the overall inflammatory response triggered by HAE.

It is important to note that the severity and frequency of symptoms can vary among individuals with HAE. Some individuals may experience frequent and severe attacks, while others may have milder symptoms or longer intervals between attacks. Additionally, certain triggers such as stress, trauma, hormonal changes, or certain medications can precipitate or worsen HAE symptoms.

If you suspect you or someone you know may have HAE based on the symptoms described, it is crucial to seek medical evaluation and diagnosis. Early diagnosis and appropriate management can help individuals with HAE lead fulfilling lives and reduce the impact of the condition on their well-being.