What causes hereditary angioedema?

Hereditary angioedema (HAE) is a very rare genetic condition that affects 1 in 10,000-50,000 people. It is caused by a mutation in SERPING1 gene resulting in nonfunctional or insufficient levels of C1 esterase inhibitor (C1INH) in the bloodstream.

The absence of C1INH leads to the accumulation of another molecule called bradykinin. This causes fluid leakage from the blood into the tissues resulting in spontaneous and acute swelling in limbs, face, throat, abdomen, and genitalia. The condition may also be caused by mutations in the F12 gene, which provides instructions to build a blood clotting factor called factor 12.

The emotional burden of HAE

Living with hereditary angioedema can be a heavy emotional burden for patients. The symptoms are often painful and disfiguring and may last from hours to days. Swelling in the airways can potentially be life-threatening if not diagnosed and treated correctly.

Although new therapeutic options have been increasingly improving their quality of life, issues like the side effects of constant treatment and not knowing when and where the next attack will happen may have a considerable negative impact on patients, perhaps leading to anxiety and depression.

How common is depression in HAE?

Depression in hereditary angioedema is a recent but important concern. One study followed 26 HAE patients. Based on telephone conversations, the researchers found that 39 percent of them had mild, moderate, or, less often, severe depression.

Another study conducted in Italy also found that depression is common in hereditary angioedema patients and that women with the condition are more susceptible to depression than men. This is likely because some treatment methods induce side effects that are more uncomfortable for women, such as facial hair growth and irregularities in their menstrual cycle.

The cause of depression in HAE

Inaccurate and late diagnosis, lack of awareness, side effects of therapies, and the unpredictability of attacks are among the factors contributing to depression in hereditary angioedema patients.

Mental stress is one of the most common triggers of HAE attacks. As a result, depression itself may also cause attacks, resulting in a vicious cycle of depression and attacks.

Aside from the social and psychological consequences of hereditary angioedema that patients have to cope with, there is evidence suggesting that the disease itself may also cause depression.

Bradykinin, the molecule that is found in higher than normal levels in hereditary angioedema patients, carries out its function by binding to another molecule called B1 receptor, which has been shown to mediate depression-like behavior in experimental models.

Managing depression in HAE

Lifestyle changes may help manage the stress of living with hereditary angioedema. Some of these changes include having a set routine, eating a healthy diet, exercising regularly, and getting plenty of sleep.

Nonprofit patient organizations such as the U.S. Hereditary Angioedema Association (HAEA) and the HAEi, the international umbrella organization for the world’s hereditary angioedema patient groups, can provide emotional support for people living with hereditary angioedema.

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Angioedema News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Sedef Iskit BNS Writer
Sedef Iskit is a molecular biologist with a PhD in molecular oncology. She is writing informative medical articles for doctors and patients to pursue her strong interest in science education and communication.
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Sedef Iskit BNS Writer
Sedef Iskit is a molecular biologist with a PhD in molecular oncology. She is writing informative medical articles for doctors and patients to pursue her strong interest in science education and communication.