Genetic Disorders

Know about the symptoms of Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE) is a rare genetic disease that affects the immune system’s way to control inflammation. Severe swelling of the airway, gastrointestinal system, and skin is caused due to this condition. People with HAE experience symptoms around their puberty and the swelling attacks tend to increase if the condition is left untreated. The frequency, severity, and time of these attacks are unpredictable and tend to vary from person-to-person. Medications are helpful in reducing the frequency of attacks and also its severity. Symptoms of HAE tend to overlap with common gastrointestinal illnesses and allergic reactions, making it further difficult to diagnose. Some of the common health conditions that have similar symptoms are irritable bowel syndrome, diverticulitis, gastroenteritis, pancreatitis, and appendicitis. If HAE in untreated, it disrupts the everyday activities of life.

The initial signs and symptoms of an HAE attack

Some hereditary angioedema attacks may have some initial warning signs few hours before the swelling begins. The initial signs and symptoms of an HAE attack are-

  • Fatigue
  • Non-itchy and painless rash
  • Sudden mood changes
  • Tingling pain
  • Anxiety
  • Skin tightness
  • Irritability

Commonly experienced signs and symptoms of HAE
Swelling can be caused at various places when a person experiences an HAE attack. Some of the common body parts and organs that experience a hereditary angioedema attack are genitals, throat, gastrointestinal tract, feet, and hands. In case of throat swelling, it is important to know that it is a medical emergency as throat swelling closes the airways which is life-threatening.

  • Swelling of the skin
    Skin tightening and tingling are one of the most prevalent symptoms of HAE swelling. The condition eventually progresses to be extremely painful. The swelling decreasing within a couple of days if left untreated. However, symptoms like skin swelling restrict one is participating in everyday activities. For example, the feet may become swollen enough for one to not be able to put on shoes or the fingers may swell enough that one can’t bend them. Hands, genitals, face, mouth, buttocks, and feet are skin swellings that are affected by HAE.
  • Throat swelling
    One of the most dangerous and severe symptoms of HAE is throat swelling. Almost half of the people who have been diagnosed with HAE have an incident of throat swelling at least once. If you are having trouble swallowing, breathing, or talking, due to the throat swelling, call 911 immediately. Difficulty in swallowing, change in the quality of voice or hoarseness, or difficulty in breathing are some of the common symptoms of throat inflammation.
  • Abdominal swelling
    Half of all the HAE attacks include swelling in the gastrointestinal tract. The signs and symptoms that the gastrointestinal tract is facing a hereditary angioedema attack include vomiting, dehydration, diarrhea, nausea, and severe stomach ache. These abdominal symptoms in people whose HAE has not been diagnosed can lead to unnecessary surgeries as the signs and symptoms can be confused with other conditions like ovarian torsion, ruptured ovarian cysts, or appendicitis. In severe cases, the loss of body fluids from the abdominal swelling can cause hypovolemic shock. This is a life-threatening condition and medical attention is needed immediately.