Living With Hereditary Angioedema

May 23, 2019

At Accredo, our specialized team of nurses, pharmacists and other clinicians assist patients and doctors with successful Hereditary Angioedema disease management.

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While many rare diseases are “invisible,” with few physical signs, the symptoms of hereditary angioedema (HAE) may include severe swelling.  This swelling typically occurs in the limbs, face, intestinal tract, and throat.

HAE is a rare and potentially life-threatening disease, affecting 1 in 10,000-50,000 people worldwide, or approximately 6,000 individuals in the United States. Due to its rarity, the disease may go undiagnosed for years or patients with HAE may receive the wrong diagnosis.

Symptoms of HAE episodes (or attacks) may be sudden, intense and sometimes painful, manifesting as swelling that can occur anywhere in the body. These symptoms may be triggered by anxiety, stress, dental procedures, trauma, physical activity, pregnancy, surgery, menstruation, oral contraceptive use or infection.

HAE episodes and symptoms vary among patients and are emotionally and physically challenging due to the frequency of attacks and their impact on the patient’s activities of daily living.  HAE episodes can vary in frequency from two to three attacks per year to more than one attack per week.

Cause and Effect of HAE

About 75% of cases are hereditary, resulting in a 50% chance a child will inherit the disease if one parent has HAE. However, the remaining 25% of individuals with HAE may not have a family history and the condition may result 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 may occur anywhere in the body, but are often noted in the following areas:

  • Face: Swelling affects eyelids, lips and tongue, causing disfigurement that’s temporary, but may last several days.
  • Laryngeal: Attacks affecting the airway are potentially life-threatening and can lead to the need for intubation or tracheotomy. Fifty percent of HAE patients experience at least one laryngeal attack in their lifetime.
  • Extremities: These are the most common sites and may restrict mobility and the use of hands and feet.
  • Abdomen:  Swelling can cause pain, nausea, vomiting and/or diarrhea with possible frequent hospitalizations and the need for exploratory surgeries.
  • Urogenital: Swelling of the bladder causes difficult and painful urination; may occur from childbirth and may affect sexual relations in adulthood.

Diagnosis and Treatment

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. These therapies include C1-INH concentrate, which is administered intravenously, and icatibant or ecallantide which are administered by injection.

Prophylactic medications can be given at regular intervals to prevent attacks from occurring. Each has different mechanisms of action, dosing, administration, risks and benefits.

Recent advances in the treatment of HAE include several new FDA approved therapies that assist in developing a customized treatment plan for preventing and treating HAE attacks.

The Accredo Difference

Patient education and coordination of care are key factors in therapeutic approaches to treating HAE. Accredo’s specialized team of nurses, pharmacists and other clinicians assist patients and doctors to better understand the disease and available treatment options. Our clinical care, combined with therapies that enable a patient to treat and /or manage an HAE episode in their home, works to result in fewer ER visits/hospitalizations and decreased costs. Assisting our patients to recreate a normal quality of life and effectively manage HAE continues to be a focused goal at Accredo.

Author Bio

Wanda Benjamin
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