Acil Serviste Herediter Anjioödem’e Güncel Yaklaşım

Herediter anjioödem (HAÖ) nadir görülen, genelde C1 inhibitör (C1-INH) eksikliğine bağlı, tekrarlayan anjioödem ataklarıyla bilinen ve ölümcül olabilen otozomaldominant geçişli bir hastalıktır. Anjioödem atakları genellikle aniden oluşur, sıklıkla tahmin edilemez ve tipik olarak ekstremite, gövde, yüz, karın, genital organlar veüst solunum yollarını tutan şişliklere yol açar. Hastaların yaklaşık 1/3’ünde prodromal dönemde eritema marginatum benzeri döküntü görülebilir. Herediter anjioödemhastalarında tipik olarak eşlik eden ürtiker olmaması sıklıkla nonhistaminerjik (bradikinerjik) anjioödem şeklinde düşünülmesine yol açar. Ataklar önemli derecedeişlevsel bozukluğa, yaşam kalitesinin azalmasına ve larengeal atak olgularında ise ölüme yol açabilir. Herediter anjioödemin karın tutulumuyla giden atağı genelde tanıdagecikme ve uygunsuz tedaviye neden olan ailevi Akdeniz ateşi (AAA) ve apandisit gibi bazı akut batın durumlarını taklit eder. Herediter anjioödem tedavisi kısa ve uzunsüreli profilaksi ile atak tedavilerini içerir. Günümüzde kullanılan dört tür akut/atak tedavi seçeneği arasında, plazma kaynaklı C1-INH konsantresi, rekombinant C1-INHkonsantresi, ecallantide ve ikatibant sayılabilir.

Current Approach to Hereditary Angioedema at Emergency Department

Hereditary angioedema (HAE) is an uncommon, mostly due to C1 inhibitor (C1-INH) deficiency, possibly fatal disorder known by episodic angioedema attacks with autosomal dominant inheritance. Angioedema attacks are generally sudden, often unpredictable and causing swelling typically affecting the extremities, trunk, face, abdomen, genitalia, and upper airways. Erythme marginatum-like rash is seen in 1/3 of the patients during prodromal period. Since HAE patients characteristically have no concomitant urticaria, they are frequently considered as nonhistaminergic (bradykinergic) angioedema. Attacks may lead to significant functional impairment, decreased quality of life, and fatality due to laryngeal attacks. Abdominal attack of HAE usually resembles several acute abdominal situations, such as familial mediterranean fever (FMF) and appendicitis causing a deferral of exact diagnosis and unfitting therapies. Treatment for HAE involves long- and short-term prophylaxis as well as management of attacks. Among four attack treatment options, plasma-derived C1-INH concentrate, recombinant C1-INH concentrate, ecallantide, and icatibant are utilized nowadays.

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