How to Treat Hereditary Angioedema?

  • December 13, 2023
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How to Treat Hereditary Angioedema?

What is Hereditary Angioedema (HAE)?

Hereditary Angioedema (HAE) is a rare genetic disease causing recurrent severe swelling in the skin, airway, and gastrointestinal system, affecting 1 in 50,000 globally. Emerging around puberty, untreated attacks intensify over time.

HAE results from a deficiency or dysfunction of C1 esterase inhibitor (C1-INH), triggering uncontrolled complement system activation and excessive bradykinin release. Diagnosing HAE is challenging due to symptom overlap with allergies and common gastrointestinal issues. Recognition of symptoms is crucial, as untreated attacks can disrupt daily life. Medication is vital in managing HAE, reducing both attack frequency and severity. HAE underscores the intricate interplay between genetics and the immune system, emphasizing the need for awareness, early diagnosis, and comprehensive treatment.

Why Does Hereditary Angioedema Occur?

Understanding the genesis of HAE requires delving into the genetic underpinnings of the disorder. HAE is an autosomal dominant genetic disorder, meaning that an individual only needs to inherit one copy of the defective gene from either parent to develop the condition. There are three primary types of HAE: Types I and II result from a deficiency of functional C1-INH, while Type III is associated with normal levels of C1-INH but dysfunction in its activity.

In Types I and II, the genetic mutations lead to a reduced or dysfunctional C1-INH, which, in turn, allows for unbridled activation of the complement system. This uncontrolled activation produces a surge in bradykinin, causing blood vessels to dilate and resulting in the characteristic swelling seen in HAE. Type III, on the other hand, presents a unique challenge as it involves normal levels of C1-INH, but a dysfunction in its regulatory activity. This distinction emphasizes the complexity of the genetic landscape underlying HAE.

How Does Hereditary Angioedema Manifest?

The clinical presentation of HAE is as diverse as the genetic mutations that underlie it. The hallmark symptom is the sudden onset of severe swelling, a physical manifestation of the biochemical chaos within the body. The skin swelling, while non-itchy and non-pitting, sets HAE apart from other forms of angioedema. Gastrointestinal symptoms, ranging from abdominal pain to nausea and vomiting, can be incapacitating. The swelling of the upper airways presents a life-threatening risk, as it can lead to respiratory compromise and requires immediate medical attention.

These unpredictable and often severe attacks can significantly impact the quality of life for individuals with HAE. Living with the constant uncertainty of when the next attack might occur adds a psychological burden, emphasizing the importance of effective management strategies.