Unraveling the Puzzle of HAE

May 16, 2017
At Accredo, our specialized team of nurses, pharmacists and other clinicians assist patients and doctors with putting the pieces of the puzzle together for successful Hereditary Angioedema disease management.

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After completing a stressful day at work, Ann felt a slight numbness, tingling and swelling of her face. This could be the early warning signs of a Hereditary Angioedema (HAE) episode, commonly known as an “attack”. Left untreated, Ann’s symptoms may progress over the next 24 hours, could lead to an ER visit or hospitalization and are potentially life threatening.

With Accredo’s help, Ann was able to treat the HAE attack in her home. In 2016, she avoided four emergency room (ER) visits, saving her significant out-of-pocket costs along with the added convenience of being able to treat her condition in the comfort of her home.

Understanding Hereditary Angiodema

HAE is a rare and potentially life-threatening disease, affecting 1 in 10,000 to 50,000 people worldwide or approximately 6,000 individuals in the United States. About 75% of cases are hereditary, but the remaining 25% of individuals with HAE may not have a family history. The disease sometimes results from a spontaneous mutation in the genetic code.

Individuals with HAE either do not produce sufficient C1-esterase inhibitor protein (type I) or produce C1 esterase inhibitor protein that is dysfunctional (type II).

Insufficient C1-esterase inhibitor leads to accumulation of bradykinin, allowing water and fluids to leak out of the blood vessels into parts of the body. This leakage is thought to be responsible for the swelling, pain and inflammation associated with HAE.

Symptoms of HAE can be sudden, intense and sometimes painful, manifesting as swelling anywhere in the body, but most often occurs in the following areas:

  • Abdomen – causing pain, nausea, vomiting and/or diarrhea with possible frequent hospitalizations and exploratory surgeries
  • Extremities – feet/hands are the most common sites and may inhibitor restrict mobility and the use of extremities
  • Face – affecting eyelids, lips and tongue which may travel to the airways; potentially life-threatening
  • Laryngeal – attacks affecting the airway are potentially life-threatening and can lead to intubation or tracheotomy
  • Urogenital – swelling of the bladder causing difficult and painful urination; may occur from childbirth and may affect sexual relations in adulthood.

Symptoms of HAE may be triggered by anxiety, stress, dental procedures, trauma, physical activity, pregnancy, surgery, menstruation, oral contraceptive use or infection.

HAE may go undiagnosed as it exhibits symptoms similar to other diseases. Accurate identification requires a review of personal and family history, patient symptoms and lab tests including: C1 inhibitor, C4 and C1q. HAE is differentiated from other allergic reactions by its failure to respond to antihistamines, epinephrine or steroids.

Once diagnosed, emphasis is placed on treatment and prevention of escalation of the disease, with identification and avoidance of triggers and the use of targeted medications. Abortive medication given at the onset of symptoms can stop and reverse acute attacks. Prophylactic medications can be given at regular intervals to prevent attacks from occurring. Multiple medications have been approved in the U.S. for the treatment of HAE. Each has different mechanisms of action, dosing, administration, risks and benefits.

HAE attacks and symptoms may vary among patients and can interfere with activities of daily living. Attacks are often physically and emotionally challenging and frequency can vary from two to three attacks per year to more than one attack per week.

How We Help

Patient education and coordination of care are key factors in therapeutic approaches to treating HAE. At Accredo, our specialized team of nurses, pharmacists and other clinicians assist patients and doctors with putting the pieces of the puzzle together for successful HAE disease management. Assisting our patients to recreate a normal quality of life and effectively manage HAE is our number one goal.

Author Bio

Wanda Benjamin
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