angioedema, hereditary, 6

Angioedema, hereditary, 6 (HAE6) is associated with variants in the KNG1 gene, which plays a role in the regulation of bradykinin, a peptide that can cause swelling. This condition follows an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene can cause the disorder. Clinical features include recurrent episodes of angioedema, which is swelling that can affect various parts of the body. The most commonly reported symptoms include facial edema (80-99% of cases), swollen lips (80-99%), and edema of the dorsum of hands (30-79%). Due to the limited prevalence data, the exact frequency of this condition is not well characterized.

The hallmark of HAE6 is recurrent angioedema, which can present as significant swelling of the face, especially around the lips and eyes, occurring in 80-99% of affected individuals. Additionally, some patients may experience swelling of the hands, with 30-79% reporting this symptom. These episodes can be unpredictable and may lead to discomfort and potential complications, such as airway obstruction.

Documentation for HAE6 is limited primarily due to its rarity and the recent identification of its genetic basis. As conditions like HAE6 affect fewer individuals, systematic clinical studies have been sparse, leading to gaps in comprehensive clinical characterization. This can understandably be frustrating for patients seeking more information about their condition.