Confex
Hereditary angioedema (HAE) with C1 inhibitor (C1-INH) deficiency is a periodic disease characterized by recurrent swellings without major urticaria. They can appear as non pitting, non pruritic, non erithematous edema of the deep skin layers sometimes carrying discrete pain and sense of discomfort. Cutaneous angioedema are disfiguring without clear demarcation between affected and non-affected area. Face, limbs trunk and genitals can all be affected, mostly one site at the time but concomitant or migrating symptoms are also recorded. Location of edema to the abdominal mucosa is characteristically present in nearly all patients with HAE with a rate of recurrences similar to cutaneous location. It causes temporary bowel occlusion with attending symptoms of severe pain, vomiting, diarrhea: it can easily be misdagnosed as a surgical emergency leading to unnecessary surgery. Laryngeal edema represents around 5% of symptom recurrences in HAE. It can be lethal is not properly treated and causes death in 25% of undiagnosed patients.
Onset of symptoms is within the second decay of life with a peak around puberty. In rare instances patients can start being symptomatic at birth, while it is not uncommon to have subjects with symptom at school age. The disease is transmitted as an autosomal dominant trait thus male and female are equally affected with females usually presenting more severe symptoms.
Symptoms are facilitated by microtrauma, psychological stress, infection and menstruations. Pregnant women can present with a worsening of the disease, but this is not the rule and opposite changes are also seen. Prodromes such as anxiety, relentless, cutaneous rush as erythema marginatum can anticipate of several hours appearance of angioedema.
Although frequently misdiagnosed as allergic condition, the pathogenetic mechanisms leading to HAE symptoms are completely independent from those involved in allergy. Thus, patients with HAE do not present increased susceptibility to drug or food reactions. Angiotensin converting enzyme inhibitors and estrogens are the only drugs that have been shown to be detrimental to HAE patients and should be avoided. The first because they increase the availability of bradykinin, the mediator of symptoms in HAE, the second for a still unknown reason.
Family history of angioedema is a hallmark for hereditary C1-INH deficiency, but 25% of patients develop a de novo mutation and therefore no history of angioedema is detectable in their ancestors.
Diagnosis is made when low levels of C1-INH, either antigenic and/or functional, below 50% of normal are detected in patients with the above mentioned clinical presentation.
In recent years treatment of HAE has radically changed since new drugs arrived on the market. Recognizing the clinical picture of this disease has thus become even more important than in the past in order provide patients with the appropriate therapeutic approach.
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