[Current treatment options for hereditary angioedema]

Area of Science:

• Immunology
• Genetics
• Pharmacology

Background:

• Hereditary angioedema (HAE) is a rare, autosomal dominant disorder.
• It results from a deficiency in C1-esterase inhibitor (C1-INH).
• Clinical manifestations include recurrent localized swelling of the skin and mucous membranes, which can be life-threatening.

Purpose of the Study:

• To review the current organization of patient care for HAE.
• To outline contemporary therapeutic options for HAE management.
• To discuss the role of C1-INH in HAE and its treatment.

Main Methods:

• Review of current literature on HAE management.
• Analysis of treatment strategies including prophylaxis and acute attack therapy.
• Overview of available therapeutic agents such as C1-INH concentrates, attenuated androgens, antifibrinolytics, bradykinin receptor antagonists, and kallikrein inhibitors.

Main Results:

• HAE management requires a multi-faceted approach involving short-term and long-term prophylaxis, alongside acute attack treatment.
• A range of therapeutic options are available, including C1-INH replacement therapy (recombinant and plasma-derived), and drugs targeting the bradykinin pathway.
• In the Czech Republic, specialized care is centralized in four diagnostic and therapeutic centers since 2011.

Conclusions:

• Effective management of HAE involves a combination of prophylactic and on-demand treatments.
• The development of targeted therapies has significantly improved HAE patient outcomes.
• Centralized care in specialized centers optimizes the management of this rare and complex condition.