Introduction
Pediatric Hereditary Angioedema is a rare disorder caused by a congenital deficiency of C1 inhibitors. Recurrent angioedema that affects the subcutis involving the face, trunk, and genitals or sometimes the submucosa are characteristic of hereditary angioedema. The formation or presence of edema is related to the dysfunction of the C1 inhibitor, and traditional treatment with antihistamines and corticosteroids is inefficient. This disease shows its presentation in the first two decades of life. However, even now, there still is a delay between the onset of initial sumps of the disorder and the diagnosis of angioedema.
This lifelong disease is characterized by repeated skin, upper airway, and gastrointestinal tract swelling. The cause is inadequate C1 inhibitor function and dysfunction in the bradykinin pathway, showing clinical symptoms. Apart from the symptoms, the patient’s quality of life Is also affected. Symptoms usually begin early and are usually diagnosed at 20 years of life. Life-threatening situations are usually uncommon in pediatric patients.
What Are the Symptoms of Hereditary Angioedema?
There are three most common types of angioedema:
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Subcutaneous edema.
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Laryngeal edema.
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Abdominal edema.
The frequency of occurrence is variable in all types. In patients suffering from severe disease, the recurrence can happen every week. In some patients, the disease remains mild, and the patient shows no symptoms lifelong.
Subcutaneous Edema:
The edema of the skin occurring in pediatric Hereditary Angioedema is a circumscribed and non-erythematous swelling of the patient's skin. This lesson is not associated with urticaria and is experienced by almost all the patients suffering from the disease during their lives. The parts that are most highly affected are extremities and may also develop on the face, neck, genital area, and also the trunk. This edema may resolve spontaneously within two to four days of the appearance. In children, the most common precipitation includes mechanical trauma and airway infection.
Abdominal Edema:
This type mimics abdominal catastrophe and may result in treatment with an unwanted surgery. Clinical features include diffuse abdominal pain, diarrhea, and vomiting, and can also lead to hypovolemic shock. The differential diagnosis for this type of edema is the absence of fever. While blood cell count increases and may result in hemoconcentration. It is also associated with high red blood cells and platelets, elevated levels of hemoglobin, and hematocrit. Coagulation time is reduced. The abdomen is the second most frequent location of edema attack involving the gut and stomach. Common causes include frequent abdominal pain in children. In a few patients, the abdominal pain reflects abdominal edema. This abdominal edema is often accompanied by subcutaneous edema.
Laryngeal Edema:
Although this type of Hereditary Angioedema is a rare condition, it is a life-threatening situation characterized by a deficiency of C1 inhibitors. This type usually occurs in the second decade of life in almost half of the patients affected with Hereditary Angioedema in their lifetimes. This can be present as early as three years of age. In pediatric patients, the edema is seen in the face, neck, soft palate, uvula, and larynx. As the diameter of the upper respiratory tract is small, even small inflammation causes rapid obstruction and suffocation in children. Clinical presentation of laryngeal edema in children includes dyspnea, stridor, hoarseness, change of voice, and dysphasia. Correct diagnosis at the appropriate time should be done by a specialist such as an otolaryngologist.
Other Locations Showing Edema
In pediatric patients, hereditary angioedema may also be seen in the brain, muscles and joints, urinary bladder, urethra, and kidneys. Subcutaneous edema of the trunk, called chest episode, involves dyspnea and retrosternal pain. Involvement of heart and lungs showing evidence of pericardial and pleural effusion is also seen in children with hereditary edema.
What Is the Treatment for Hereditary Angioedema?
Management:
The management of the disorder involves the following:
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Educating patients and families.
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Treatment is to be sought under a specialist.
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Home Therapies.
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Regular follow-up.
Treatment
The active treatment for Hereditary Angioedema in pediatric patients includes:
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Immediate hospitalization of children with edema involving submucosa of the face and lips that is associated with the spread of edema to the larynx. Laryngeal edema is an emergency and an indication for immediate hospitalization in the ICU. The patient is intubated, and a tracheostomy is carried out if needed.
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Severe abdominal pain because of edema is also a surgical emergency, and differential diagnoses include appendicitis. Abdominal ultrasound is advantageous in pediatric patients. The peritoneal fluid and edematous swelling of the intestines suggest abdominal edema.
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The patient has typical signs of hypovolemia.
Home therapy
The home therapy for angioedema in children is almost similar to hemophilia, which is 30 years old now. It is recommended for all patients to go for home therapy. The edema attack can progress rapidly and become a life-threatening situation. C1 inhibitor replacement is kept at home and for travel. This can be self-administered or given by a caregiver. Self-administration should be done timely, and this reduces the occurrence of severe events. Home therapy should be supervised continuously for efficient results. Immediate help should be sought if self-administration is not possible because of the severity of the attack. The patient should seek medical attention if the attack of edema is not responding to the therapy. The replacement should avoid being exposed to heat or cold while traveling.
Emergency Treatment:
There should always be an emergency plan for treating the attack of angioedema. The laryngeal type can be life-threatening. This includes patients on long-term prophylaxis who have attacks. For patients with frequent attacks, treatment should be at home and school. Medical facilities can speed up treatment, reduce severity, and increase patient comfort. The treatment can also be given at home by oneself or a caregiver. Emergency medical care should be taken if the symptoms do not improve.
Conclusion
This hereditary angioedema in pediatric patients is a devastating disease with free treatment options available. The new therapies have been included and decreased the risk of mortality. Testing for individuals at high risk should be available. The efficiency of other treatment therapies is eagerly awaited.
