Hereditary Angioedema

What is Hereditary Angioedema?

Hereditary angioedema is a genetic disorder that causes skin swelling and swelling in the lining of the lungs and gut. It may also occur elsewhere in the body, including in the throat, which creates a much more dangerous situation with airway constriction. Those with the disorder will experience bouts of it, and then have stretches of time where the swelling subsides. Some sufferers will have bouts of hereditary angioedema as often as every 1 or 2 weeks, while others may only have 2 or 3 in a year.

It is common for signs of the disorder to appear in a person’s teen years, and then their symptoms become more pronounced as they move into adulthood. There is no cure for hereditary angioedema, but it is a manageable disorder.

What Causes Hereditary Angioedema?

Hereditary angioedema is the result of blood protein being in imbalance in the body. This occurs because of a faulty C1 inhibitor gene. Insufficient blood protein is what causes hereditary angioedema most of the time, but it may also be possible that there is enough of the protein but it isn’t working properly.

Individuals with a parent who have this disorder are going to be 50% more likely to have it themselves. This is why it is referred to as hereditary angioedema. It is uncommon for people who don’t have a familial trait for it.

Hereditary Angioedema Symptoms

Excessive swelling of skin or tissue is the most primary of hereditary angioedema symptoms. This swelling can occur in the mouth or throat, feet, hands, face, genitals, or belly. Belly swelling can lead to secondary symptoms of pain, nausea, diarrhea, or vomiting.

It is also worth noting that there are symptoms that may be seen in advance of the start of the swelling. These include fatigue, muscle ache, headache, tingling sensations in the skin, hoarseness, and even mood changes. There are triggers for hereditary angioedema too, including stress and anxiety, surgery, illnesses, physical exertion, and use of certain medications.

Hereditary Angioedema Treatment

The standard approach for hereditary angioedema treatment is to have the person start on a course of medication with Orladeyo or Firazyr. A person’s doctor may also suggest they receive supplementary oxygen or IV fluids to reduce the severity of hereditary angioedema.

Sufferers will also benefit from identifying which triggers are most likely to prompt bouts of the disorder, and then do their best to avoid them.

IMPORTANT NOTE: The above information is intended to increase awareness of health information and does not suggest treatment or diagnosis. This information is not a substitute for individual medical attention and should not be construed to indicate that use of the drug is safe, appropriate, or effective for you. See your health care professional for medical advice and treatment.

Signs & Symptoms

  • Swelling of the face
  • Swelling of the hands and feet
  • Swelling of the throat
  • Abdominal pain
  • Nausea
  • Vomiting
  • Diarrhea
  • Difficulty breathing
  • Rash
  • Fatigue

Anatomy

  • Blood vessels
  • Skin
  • Mucous membranes
  • Gastrointestinal tract
  • Larynx
  • Subcutaneous tissue
  • Immune system

Cause

  • Genetic mutation (C1-INH gene)
  • Family history
  • Stress or trauma
  • Hormonal changes
  • Infections
  • Certain medications

Diagnosis

  • Blood tests (C4 and C1-INH levels)
  • Genetic testing
  • Family history review
  • Clinical evaluation
  • Complement studies
  • Allergy tests (to rule out other causes)
  • Physical examination

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