Hereditary Angioedema (HAE)

  • Medical Author:
    Charles Patrick Davis, MD, PhD

    Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Causes of Swollen Lips

Swelling of the lips can be caused by a variety of different conditions. Some of the causes of swollen lips include:

  • Trauma or injury to the lip and mouth
  • Allergic reactions, either to foods, medications, or other substances
  • Angioedema (a condition in which there is swelling of the tissue beneath the skin)
  • Infections and inflammatory conditions of the skin
  • Less commonly, medical conditions or illnesses that affect the entire body

Hereditary angioedema (HAE) definition and facts:

  • Hereditary angioedema (HAE) is a rare, autosomal dominant genetic disease that causes swelling of the skin and tissue just beneath the skin.
  • Some symptoms of hereditary angioedema include:
    • Swelling of the skin (most common symptom)
    • Swelling of the hands and feet
    • Fatigue
    • Headache
    • Muscle aches
    • Skin tingling
    • Abdominal pain (sometimes severe)
    • Nausea and vomiting
    • Hoarseness
    • Shortness of breath
    • Mood changes
    • Laryngeal edema (medical emergency)
    • Multiple reoccurrence symptoms
  • The cause of hereditary angioedema is due to low production of a C1 inhibitor protein, or C1-INH, (Type I HAE); or production of a faulty C1 inhibitor protein (Type II HAE). Type III is an estrogen -dependent form of HAE that is a result of mutations in the gene for coagulation factor XII.
  • HAE attacks may be triggered by many different situations including stress, anxiety, injuries, surgical or dental procedures, certain illnesses, physical activities (for example mowing the lawn), medications, menstrual periods, pregnancy and other causes.
  • HAE is diagnosed by the patient's appearance, family history, blood testing for serum C4 levels, and other complement levels such as C1, C2 and C4. Ultrasound, CT scan, and X-rays may demonstrate swelling.
  • Treatment for HAE follows the guidelines set out by the World Allergy Organization (WAO) by using C1-INH or other drugs to treat hereditary angioedema.
  • The most dangerous complication of hereditary angioedema is laryngeal edema that leads to shortness of breath or complete obstruction of the airway within a few hours.
  • Tips for managing hereditary angioedema include recommendation for the patient to carry treatments for acute HAE attacks at all times, and to consider preventative treatment when encountering a common HAE trigger, for example, a dental procedure.
  • With early diagnosis, the prognosis for individuals with hereditary angioedema range from good to fair depending on their individual disease severity and response to treatment. There is no known cure for HAE

What is hereditary angioedema (HAE)?

Hereditary angioedema (HAE) is a rare hereditary disease that causes swelling with fluid accumulation of the skin and tissues just beneath the skin (subcutaneous tissue). The disease is unique in each individual. How often the swelling occurs and how severe it is along with its location is variable. If the swelling occurs in throat tissue, it can cause a medical emergency as breathing could be inhibited or stopped by swollen tissue.

Medically Reviewed by a Doctor on 7/13/2016

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