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Hereditary Angioedema (HAE)

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What’s Hereditary Angioedema?

Hereditary Angioedema (HAE) is a rare and potentially life-threatening genetic disease that occurs in about 1 in 10,000 to 1 in 50,000 people. HAE symptoms include edema (swelling) in various body parts, including the hands, feet, face, and airway. Given the rareness of this condition, it can often go undiagnosed. Patients may also receive a misdiagnosis of a related condition.

HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. This genetic defect results in the production of either inadequate or non-functioning C1-Inhibitor protein. Normal C1-Inhibitor protein function helps regulate the complex biochemical interactions of blood-based systems involved in disease-fighting, inflammatory response, and coagulation. Because defective C1-Inhibitor does not adequately perform its regulatory function, a biochemical imbalance can produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, causing edema.

HAE is described as hereditary because the genetic defect gets passed on through families. A child has a 50 percent chance of inheriting this disease if one of their parents has it. The absence of family history does not rule out the HAE diagnosis, however. Scientists report that as many as 20 percent of HAE cases result from patients who spontaneously mutated the C1-Inhibitor gene at conception. These patients can pass the defective gene to their offspring.

Symptoms of Hereditary Angioedema

Patients often have bouts of excruciating abdominal pain, nausea, and vomiting caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

Patients can also present with early warning signs that indicate an HAE attack is pending. These early warning signs can include:

  • breaking out into a painless, non-itchy rash
  • experiencing a tingling sensation in the skin
  • developing a feeling of tightness in the skin
  • experiencing an onset of fatigue and/or irritability
  • going through sudden mood changes
  • feeling anxiety
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Because the disease is very rare, it is not uncommon for patients to remain undiagnosed for many years. Many patients report that their frequent and severe abdominal pain was inappropriately diagnosed as psychosomatic, resulting in a referral for psychiatric evaluation.

Similarly, patients experiencing gastrointestinal edema have received unnecessary exploratory surgery because abdominal HAE attacks mimic a surgical abdomen. Before therapy became available, the mortality rate for airway obstruction was reportedly as high as 30 percent.

Any patient who has experienced consistent symptoms related to HAE or any of the early warning signs of HAE should contact a medical professional at AllerVie Health to schedule a consultation.

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Treatment Options for Hereditary Angioedema

There are several emergent treatments for HAE. Working in close consultation with the medical experts at our clinics provides patients with various options for treating this complex and rare condition.

Treatment options can include managing acute attacks, prophylaxis, and prophylactic therapy in situations where attacks can occur. Medications can help treat patients who experience abdominal pain. A doctor may perform intubation or tracheostomy in rare cases where respiratory obstruction results from an HAE attack.

FDA-approved medication for treating the symptoms of HAE became available in the US for the first time in late 2008. Our immunologists have specialized training and expertise to diagnose your condition and provide relief for your symptoms accurately. Great strides have been made within the last decade to help manage this life-long condition. In an attempt to stay at the forefront of care options, our clinical research affiliate, Clinical Research Center of Alabama, continues to conduct clinical research studies for HAE therapies.