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Novel exomic rare variants associated with venous thrombosis.

ABSTRACT: Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate-adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma levels of anticoagulant glucosylceramide. Analysis of 50 chr17p13.1 MYH rare SNPs (clustered skeletal myosin heavy chain genes) using collapsing methods was associated with recurrent VTE (P = 2·70 ×10^-16 ). When intravenously injected, skeletal muscle myosin was pro-coagulant in a haemophilia mouse tail bleeding model. Thus, FAM134B and MYH genetic variants are plausibly linked to VTE risk.

SUBMITTER: Deguchi H

PROVIDER: S-EPMC7732677 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Novel exomic rare variants associated with venous thrombosis.

Deguchi Hiroshi H Shukla Meenal M Hayat Mohammed M Torkamani Ali A Elias Darlene J DJ Griffin John H JH

British journal of haematology 20200330 5

Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate-adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma level ...[more]

PMID: 32232851

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Project description:BackgroundVascular complications of acute pancreatitis are common. Splanchnic thrombosis accounts for 11% of these complications, whereas extrasplanchnic thrombosis remains a rare entity. These complications are associated with high morbidity and mortality. Diagnosis is established on the basis of clinical and radiological evaluation, especially computed tomography. Renal vein thrombosis has been reported previously, but only in association with thrombosis of the inferior vena cava. To our knowledge, renal vein thrombosis without inferior vena cava thrombosis has never been reported in the literature. We report a case of a woman who developed acute pancreatitis complicated with splanchnic thrombosis and renal vein thrombosis with a patent inferior vena cava.Case presentationA 48-year-old Moroccan woman with no significant past medical history presented to our emergency department with worsening epigastric pain and vomiting. Her physical examination was notable only for moderate epigastric tenderness. She was apyrexic and had no jaundice or any features of liver failure. An initial computed tomographic scan showed Balthazar grade C pancreatitis with multiple splanchnic thromboses involving the portal vein, superior mesenteric vein, and left renal vein and enteromesenteric venous infarct with no signs of bowel perforation. The inferior vena cava was patent. Therapeutic anticoagulation and analgesia were started with resumption of enteral feeding 72 h later. The result of a thrombophilia screen was negative. Two months later, the patient was admitted to the intensive care unit with acute liver failure. Computed tomography of the abdomen showed worsening ischemic liver lesions and no signs of bowel perforation. Biochemical analysis showed acute hepatitis with hepatocellular insufficiency. The clinical evolution was unfavorable, and the patient died 48 h later.ConclusionsAssociation of splanchnic and renal vein thrombosis without inferior vena cava thrombosis as a complication of acute pancreatitis has never been reported before. There are no specific aspects of management of this complication; therapeutic anticoagulation and symptomatic treatment are the main measures used owing to the lack of available organs for liver transplant. The prognosis depends on the consequences of splanchnic thrombosis and their complications.

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Novel exomic rare variants associated with venous thrombosis.

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Novel exomic rare variants associated with venous thrombosis.

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