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Gene & Protein in Disease Hereditary angioedema

against the development of severe complications. This, in Oral medications, such as danazol and tranexamic acid,
turn, facilitates prompt recovery and reduces the duration of continue to be the most commonly prescribed medications.
painful episodes experienced during the attacks. 13 However, patients should undergo regular re-evaluation
and discussion with their health-care provider during each
The therapeutic options for the treatment of HAE
have expanded significantly in recent years, offering both consultation to determine whether prophylactic treatment
is still necessary.
long-term prophylactic strategies aimed at preventing
HAE attacks and acute treatment options to address 4. Conclusion
immediate symptoms. Historically, attenuated androgens
have been utilized for HAE prophylaxis; however, it is Angioedema is an uncommon pathological condition
crucial to note that these medications can potentially lead characterized by sudden episodes of swelling under the
to severe adverse effects. Thus, although they have proven skin and mucous membranes and can vary widely in
effective in some cases, their side effects necessitate careful the age of onset among individuals. Early detection is
consideration. There are several noteworthy options for crucial because of the considerable morbidity associated
acute treatment. One option is Berinert®, which functions as with laryngeal swelling. The clinical presentation
a nanofiltered C1-inhibitor (human) replacement product. characterized by skin and mucous membrane swelling,
Another choice is Firazyr® (icatibant), an antagonist of the minimal itching, recurring episodes, absence of hives,
bradykinin B2 receptor that plays a role in the development and unresponsiveness to antiallergic treatment, along
of AE. Finally, Kalbitor® (ecallantide) is a plasma kallikrein with a familial history of similar cases, should guide the
inhibitor that can be employed to manage acute HAE diagnosis. Upon strong clinical suspicion, confirmation
attacks. Each of these treatment modalities offers distinct can be obtained through laboratory tests involving
mechanisms of action and may be suitable for different the measurement of C4- and C1-inhibitor levels.
patients, depending on their individual requirements. The Consequently, clinicians must closely collaborate with a
availability of these diverse therapeutic options represents team of experienced biologists to study this condition.
a significant advancement in the field of HAE management The significant advancement in genetic research holds
and provides health-care professionals with a broader promise for enhancing our understanding of the diverse
range of tools to effectively address this condition. 13 range of clinical manifestations. However, the current
therapeutic interventions are suboptimal because they
3.3. Prophylaxis often have notable adverse effects.
It is essential to administer short-term prophylaxis before Acknowledgments
high-risk procedures to patients at risk. Anesthesiologists
13
should possess comprehensive knowledge of the guidelines None.
for HAE and AAE. 2,14-16 Patients with HAE should Funding
consider short-term prophylaxis, such as plasma-derived
C1-inhibitor concentrate and a short-term course of high- None.
dose therapy with attenuated androgens, or fresh frozen
plasma, to minimize the risk of attacks triggered by specific Conflict of interest
factors, such as invasive medical procedures. 17 The authors declare they have no competing interests.
Long-term prophylactic therapy aims to minimize Author contributions
the occurrence and severity of seizures and prevent
progression to emergencies or hospitalization in patients Conceptualization: Youssef Bouzoubaa, Hamza Benghaleb
with HAE. The primary objective is to enhance the overall Investigation: Walid Bijou, Youssef Oukessou, Sami Rouadi,
well-being of patients. The risk–benefit ratio of such Redallah Abada, Mohamed Roubal, Mohamed Mahtar
treatments should be carefully considered for each patient, Methodology: Walid Bijou,Youssef Oukessou, Sami Rouadi,
considering their adverse effects, administration method, Redallah Abada, Mohamed Roubal, Mohamed Mahtar
and cost. Prolonged prophylaxis is typically recommended Writing – original draft: Youssef Bouzoubaa, Hamza
for patients experiencing frequent (defined as more than Benghaleb
24 symptomatic days/year) or severe (at least one severe Writing – review & editing: Youssef Bouzoubaa, Hamza
attack/month) AE attacks, those with a history of laryngeal Benghaleb
edema, significant school or occupational absences, a
marked decline in quality of life, or patients who are Ethics approval and consent to participate
unable to manage the treatment of severe crises. 18,19 The patient provided verbal consent for this case report.

Volume 3 Issue 1 (2024) 3 https://doi.org/10.36922/gpd.2665