Hereditary Angioedema Symptoms and Diagnosis

Hereditary angioedema, if not prevented through genetic counseling, may cause severe problems to a patient in his or her late childhood and adolescent years. Hereditary angioedema is a health conditions that is experienced by a portion of the population, and it can be passed down to children or grandchildren. Prevention is important for this case, so it is advisable for families who have a family medical history of this disorder to seek counseling before early symptoms surface. Hereditary angioedema is caused by low levels or malfunction of a protein called C1 inhibitor.

Symptoms of Hereditary Angioedema

Hereditary angioedema is characterized by the swelling of the different parts of the body. This can be fatal, especially if the swelling occurs in the throat area. Among the most common symptoms of hereditary angioedema are the following:

• Blockage of the airway. This is often accompanied by throat swelling and sudden hoarseness. This is due to the swelling of the larynx and/ or trachea as an abnormal reaction of the immune system.
• Repetitive episodes of abdominal cramping without apparent causes. The frequency and intensity of these attacks can be caused by a certain type of bacteria that are found in the stomach.
• Swelling in other parts of the body like arms, legs, lips, eyes, tongue and/ or throat.
• Intestinal swellings. This symptom when aggravated can lead to other abdominal problems like cramping, vomiting, dehydration, diarrhea, pain and occasional abdominal shock.
• Swelling in the surface of the skin caused by a concentration of fluids under the skin surface.
• Burning and hot sensation in the swollen areas, especially on the skin, however, it is not itchy.
• Swelling of the conjunctiva in the eye that affects the vision.
• Swelling of the bladder or urethra (the tube that connects the bladder to the genitals), which can cause bladder problems and difficulty in urination.

Diagnosis

Hereditary angioedema must be diagnosed early on to prevent severity of attacks and other complications. The basic diagnostic test for this disorder is through blood test. This is to check the levels of the proteins that are regulated by C1- 1NH (Complement C4). If the protein levels are low in the blood, its actual levels and functions are measured. Very low C1 protein levels in the blood may suggest a diagnosis of hereditary angioedema. Diagnosis and treatment for this condition is highly specialized and must be carried out in a recognized immunology clinic.