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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.
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What it is Hereditary Angioedema
Patients with HAE have a problem with the gene that controls C1 Inhibitor, a protein in the blood. Because of this genetic defect, the body makes either too little or no C1-Inhibitor protein. Normal function of the C1-Inhibitor protein helps control the complex biochemical interactions of blood-based systems that fight disease, respond to inflammation, and form blood clots. Because a bad C1-Inhibitor doesn’t do its job of regulating well, a biochemical imbalance can cause unwanted peptides to be made. These peptides cause the capillaries to leak fluid into the tissue around them, which causes edema.
Hereditary atopic eczema is a genetic disorder that gets passed down from one generation to the next. If one parent has this disease, there is a 50% chance that the child will also get it. Even if there is no history of HAE in the family, it is still possible to have it. Scientists say that as many as 20% of HAE cases are caused by people whose C1-Inhibitor gene changed on its own when they were born. These people can pass on the defective gene to their children.
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
HAE is rare and difficult to diagnose
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.
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, AllerVie Clinical Research, continues to conduct clinical research studies for HAE therapies.