HELLP sendromunu taklit eden gebelik başlangıçlı konjenital trombotik trombositopenik purpura (Upshaw-Schulman sendromu): Olgu sunumu

Pregnancy onset congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) mimicking HELLP syndrome: a case report

Ayşegül ÖZEL, Sezin CANBEK, Berna Buse KOBAL, Başak ERGİN, Zeynep YAZICI, Murat MUHCU, Ali Hakan KAYA

Özet

Amaç: Trombotik trombositopenik purpura; hemolitik anemi, trombositopeni, nörolojik anomaliler, atefl ve renal disfonksiyon ile karakterize trombotik mikroanjiyopatik bir hastal›kt›r. Preek- lampsi ve HELLP sendromu gibi trombotik mikroanjiyopatiler gebeli¤e özgüyken, trombotik trombositopenik purpura (TTP) ve hemolitik üremik sendrom gibi di¤er mikroanjiyopatiler gebeli¤e özgü de¤ildir. Bu raporda, ADAMTS13 aktivitesinde önemli bir azalmaya yol açan yeni bir mutasyon tespit etti¤imiz olgumuzu su- nuyoruz. Olgu: Epigastrik a¤r›, hipertansiyon ve düflük platelet say›s›yla baflvuran 32 yafl›ndaki nullipar gebede önce HELLP sendromun- dan flüphelenildi, fakat olguya do¤um sonras›nda konjenital TTP tan›s› ald›. Sonuç: Bu olguda tan› almam›fl TTP’nin yan› s›ra HELLP sendro- mu mevcuttu. ‹ki patolojiyi antenatal bir temelde birbirinden ay›rt edebilmek için yeterli fark›ndal›¤a sahip olmaya çal›flmaktay›z, çün- kü iki patolojinin yönetim nedenleri birbirinden tamamen farkl›d›r.

Abstract

Objective: Thrombotic thrombocytopenic purpura is a thrombot- ic microangiopathic condition characterized by hemolytic anemia, thrombocytopenia, neurologic abnormalities, fever and renal dys- function. Thrombotic microangiopathies such as preeclampsia and HELLP syndrome are pregnancy-specific, whereas others such as thrombotic thrombocytopenic purpura (TTP) and hemolytic ure- mic syndrome are not. In this report, we present a case at which we identified a novel mutation which led to a significant reduction of ADAMTS13 activity. Case: A nulliparous pregnant woman of 32-year-old presenting with epigastric pain, hypertension and low platelet count was first sus- pected of HELLP syndrome, but was diagnosed with congenital TTP after delivery. Conclusion: HELLP syndrome co-existed with undiagnosed TTP in this case. We strive to have sufficient awareness in order to dis- tinguish these two pathologies from each other on an antenatal basis, because the causes of the managements are entirely different.