Introduction
Hereditary angioedema (HAE) is a rare genetic condition characterized by swelling beneath the skin and in the lining of the gastrointestinal and respiratory systems. This swelling can manifest in different areas of the body. Typically, symptoms of HAE first emerge during childhood, intensifying during adolescence. Many individuals remain unaware of HAE as the underlying cause of their swelling until adulthood. For different people, the swelling caused by HAE can happen in various places, occur more or less often, and be more or less severe. Sometimes, during one episode, the swelling can move around. Although the swelling usually goes away on its own, it can also be dangerous and life-threatening. One critical concern involves the potential swelling of the throat, which may obstruct airways and pose a lethal threat. The frequency of HAE attacks varies, occurring anywhere from every one to two weeks to as infrequently as one to two per year.
What Is the Cause of Hereditary Angioedema?
Angioedema is a type of swelling that is similar to hives, but it happens beneath the skin rather than on the surface. Hereditary angioedema (HAE) is caused by a low level or improper function of a protein known as the C1 inhibitor, affecting blood vessels. During an HAE attack, rapid swelling can occur in various body parts like hands, feet, limbs, face, intestinal tract, voicebox, or windpipe. These swelling episodes can become more severe as a person reaches late childhood and adolescence.
Usually, there is a family history of HAE. However, some relatives might not be aware due to cases being mistakenly reported as unexpected, sudden, and premature deaths of a parent, aunt, uncle, or grandparent. Certain events like dental procedures, illnesses (including colds and the flu), and surgeries can trigger HAE attacks.
What Are the Symptoms of Hereditary Angioedema?
Common symptoms of this condition include:
-
Airway Blockage: This involves swelling in the throat, leading to sudden hoarseness.
-
Recurring Abdominal Cramps: Episodes of cramping in the abdomen that happen repeatedly without an obvious cause.
-
Swelling in Various Areas: This can occur in the hands, arms, legs, lips, eyes, tongue, throat, or genitals.
-
Intestinal Swelling: Severe intestine swelling can result in symptoms such as abdominal cramping, vomiting, dehydration, diarrhea, pain, and occasionally shock.
-
Non-itchy, Red Rash: A red rash that does not cause itching.
What Is the Emergency Management of Hereditary Angioedema?
1. At Home:
-
Identifying Hereditary Angioedema (HAE) Symptoms: Recognizing and understanding the clinical characteristics of hereditary angioedema (HAE) is a crucial initial step in managing this condition. Patients typically experience severe swelling or edema in various body parts, including limbs, face, gastrointestinal tract, and airways. The recurring inflammation poses significant health risks, especially when it affects the respiratory tract, potentially leading to life-threatening airway obstruction. Awareness of these symptoms is vital for prompt and accurate treatment.
-
Symptom Intensity and Duration: The intensity and duration of HAE symptoms can vary among patients due to triggering factors and individual differences in physiology.
-
Differentiating HAE Attacks: Distinguishing between types of HAE attacks is essential for effective management:
-
Swelling attacks can occur in limbs, face, gastrointestinal tract, and airways.
-
Acute attacks, ranging from mild to severe, may be triggered by physical activity, stress, fatigue, or infection.
-
Gastrointestinal attacks manifest as severe abdominal pain, nausea, vomiting, and diarrhea.
-
Laryngeal edema, though rare, presents with dyspnea and voice changes and poses a potentially life-threatening risk.
-
-
Timely Recognition and Treatment: Early recognition of attacks aids in prompt treatment. Understanding the varied symptomatology is crucial for patient safety and optimal condition management.
-
Comprehensive Home Care for HAE: Home treatment is pivotal for disease management and improving the quality of life. With the right techniques and treatment plans, potential attacks can be managed, ensuring a sense of normalcy. Key components include maintaining a healthy lifestyle, adhering to prescribed medications, learning relaxation techniques, tracking triggers and symptoms, and reviewing emergency plans regularly with family members.
-
Creating an Emergency Action Plan: Transparent communication with healthcare professionals is vital for devising an effective treatment plan. Medical treatments such as oral medications, injections, or infusion therapies can reduce the severity and frequency of attacks.
-
Preparing for Emergencies: Identifying nearby emergency rooms and carrying prescribed medications are essential. An emergency ID card with relevant medical information ensures prompt and appropriate treatment during an attack.
-
Managing HAE in Specific Groups: Women and pregnant individuals with HAE require special considerations due to hormonal influences. Open communication with healthcare providers helps navigate potential complications. Similarly, pediatric patients require a customized, dynamic treatment plan based on age, clinical history, and evolving needs. Early diagnosis and proactive management are crucial for their well-being.
2. At the Hospital:
When dealing with a hereditary angioedema (HAE) patient having an attack in the airway, tongue, or uvula, the main goal is to keep the airway open. Swift orotracheal intubation (a tube inserted through the mouth) is crucial for unstable patients at risk of asphyxia (a condition arising when the body is deprived of oxygen), especially when the airway is blocked. Even though oxygen levels might not immediately drop during the blockage, it is important to monitor the patient in the emergency room closely. Quick fluid replacement is necessary if there are signs of low blood pressure or dehydration.
The treatment strategy for an HAE attack depends on its severity and location. Medications that inhibit bradykinin action or increase C1-INH levels are vital, reducing bradykinin levels. Four categories of drugs are available: plasma-derived C1-inhibitor concentrate, recombinant human C1-inhibitor, bradykinin B2 receptor antagonist, and kallikrein inhibitor.
C1-INH concentrates are effective for various HAE attacks, with a recommended 20 IU/kg dosage. Recombinant humans C1-INH have demonstrated safety and efficacy. Bradykinin B2 receptor antagonist is recommended within six hours of symptom onset. Kallikrein inhibitors are also available. Fresh frozen plasma is an alternative for C1-INH replacement, but its efficacy and safety in HAE have not been fully tested in clinical trials. It is considered a last resort when other options are unavailable.
Conclusion
Emergency care professionals must be proficient in recognizing and managing hereditary angioedema (HAE) due to its potential severity. Home care, emphasizing lifestyle management and adherence to prescribed medications, plays a crucial role. In hospitals, addressing airway blockage is paramount, with various medications available for tailored treatment. Early diagnosis, proactive management, and effective communication with healthcare professionals are vital for optimizing HAE patient outcomes.
