Wufuer Guzailinuer, Wufuer Kaisaer, Ba Tu, Cui Tao, Tao Ling, Fu Ling, Mao Ming, Duan Ming-Hui
Department of Hematology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, Xinjiang Uygur Autonomous Region, China.
Department of Thoracic Surgery, The Eighth Affiliated Hospital of Xinjiang Medical University, Urumqi 830001, Xinjiang Uygur Autonomous Region, China.
World J Clin Cases. 2022 May 6;10(13):4161-4170. doi: 10.12998/wjcc.v10.i13.4161.
A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of 42. At the age of 44, he once again developed thrombosis. Genetic testing showed heterozygous SERPINC1 mutation, bone marrow biopsy showed fibrosis grade 1 (MF-1), and JAK2 V617F mutation was positive, accompanied by UGT1A1 mutation and β-thalassemia gene mutation.
A 46-year-old Han man was first found to have sigmoid sinus and transverse sinus venous thrombosis at the age of 42 but had no individual or family thrombosis history, and he had been regularly taking warfarin anticoagulant therapy for a long period of time. At the age of 44, venous thrombosis reappeared in parts of the intrahepatic vein, main portal vein, splenic vein, and superior mesenteric vein, and his spleen was obviously enlarged. He had a history of jaundice for many years, and genetic testing revealed that he carried a heterozygous SERPINC1 mutation. Bone marrow biopsy showed multifocal fibrous tissue hyperplasia among trabeculae and focal fibrosis. He was positive for the JAK2 V617F mutation. At the same time, UGT1A1 and β-thalassemia gene mutations existed, and a SERPINC1 mutation and UGT1A1 mutation were both found in his parents.
The patient in this case had thrombophilia as the primary symptom, JAK2V617-positive myeloproliferative neoplasm (MPN) was the main potential cause, and hereditary AT-III deficiency may have been one of multiple secondary causes. It remains to be determined whether UGT1A1 and β-thalassemia gene mutations are related to thrombophilia. However, the clinical features of MPN in this patient were hidden, and the relevant clinical features of coexisting thalassemia and hereditary Gilbert syndrome, reported here for the first time domestically and abroad, were complicating factors, causing great difficulties for a clear diagnosis. Thus, when thrombophilia has been determined, it is necessary to screen the relevant latent problems overall. When the clinical features cannot be perfectly explained by one etiology, a relevant comprehensive examination should also be initiated from the perspective of multiple etiologies.
一名46岁汉族男性，42岁时首次发生乙状窦及横窦静脉血栓形成。44岁时再次发生血栓形成。基因检测显示存在杂合性SERPINC1突变，骨髓活检显示纤维化1级（MF-1），JAK2 V617F突变呈阳性，同时伴有UGT1A1突变及β-地中海贫血基因突变。
一名46岁汉族男性，42岁时首次被发现有乙状窦及横窦静脉血栓形成，但无个人或家族血栓形成病史，长期规律服用华法林抗凝治疗。44岁时，肝内静脉、门静脉主干、脾静脉及肠系膜上静脉部分再次出现静脉血栓形成，脾脏明显肿大。有多年黄疸病史，基因检测显示携带杂合性SERPINC1突变。骨髓活检显示小梁间多灶性纤维组织增生及局灶性纤维化。JAK2 V617F突变呈阳性。同时存在UGT1A1及β-地中海贫血基因突变，其父母均发现有SERPINC1突变及UGT1A1突变。
本例患者以易栓症为主要表现，JAK2V617阳性骨髓增殖性肿瘤（MPN）为主要潜在病因，遗传性抗凝血酶III缺乏可能是多种继发病因之一。UGT1A1及β-地中海贫血基因突变是否与易栓症相关尚待确定。然而，该患者MPN的临床特征隐匿，国内外首次报道的并存地中海贫血及遗传性吉尔伯特综合征的相关临床特征为复杂因素，给明确诊断带来极大困难。因此，在确定易栓症后，有必要全面筛查相关潜在问题。当单一病因无法完美解释临床特征时，也应从多种病因角度开展相关综合检查。
