Published online May 6, 2022. doi: 10.12998/wjcc.v10.i13.4161
Peer-review started: August 11, 2021
First decision: September 2, 2021
Revised: September 17, 2021
Accepted: March 14, 2022
Article in press: March 14, 2022
Published online: May 6, 2022
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.
Core Tip: Thrombophilia is genetic or acquired defect, or there are acquired risk factors and a high thromboembolic tendency. Hereditary antithrombin (AT) deficiency is a genetic defect caused by a mutation in the AT coding gene SERPINCI1, which is one of the major risk factors for hereditary thrombophilia. We report a case of thrombotic disorder with hereditary AT deficiency, in which genetic tests revealed a heterozygous SERPINC1 mutation, and a JAK2V617-positive myeloproliferative neoplasm was a potential acquisition factor for venous thrombosis. At the same time, this patient was genetically confirmed to have both UGT1A1 and β-thalassemia gene mutations. In clinical work, under the premise of clear thrombophilia, comprehensive screening of relevant occult factors is necessary.