East Texas bleeding disorder

MedGen UID:: 342980
•Concept ID:: C1853831
•: Disease or Syndrome

Synonym:	Bleeding Disorder, East Texas Type
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0011615
OMIM®:	605913
Orphanet:	ORPHA391320

Definition

East Texas bleeding disorder is a rare, genetic, coagulation disorder characterized by easy bruising (without hemarthrosis or spontaneous hematomas), epistaxis, menorrhagia, and excessive bleeding after minor trauma and surgical procedures. Patients present a prolonged prothrombin time and/or activated partial thromboplastin time, normal levels of all coagulation factors, and normal protein C activity. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEast Texas bleeding disorder

Rare hemorrhagic disorder due to a constitutional coagulation factors defect
- Factor V short isoforms-related bleeding disorder
  - East Texas bleeding disorder

Follow this link to review classifications for East Texas bleeding disorder in Orphanet.

Professional guidelines

PubMed

Eltrombopag treatment of patients with secondary immune thrombocytopenia: retrospective EHR analysis.

Patwardhan P, Landsteiner A, Lal LS, Geevarghese L, Le L, Nandal S, Cuker A
Ann Hematol 2022 Jan;101(1):11-19. Epub 2021 Sep 10 doi: 10.1007/s00277-021-04637-2. PMID: 34505942 Free PMC Article

Thromboelastography and rotational thromboelastometry in bleeding patients with coagulopathy: Practice management guideline from the Eastern Association for the Surgery of Trauma.

Bugaev N, Como JJ, Golani G, Freeman JJ, Sawhney JS, Vatsaas CJ, Yorkgitis BK, Kreiner LA, Garcia NM, Aziz HA, Pappas PA, Mahoney EJ, Brown ZW, Kasotakis G
J Trauma Acute Care Surg 2020 Dec;89(6):999-1017. doi: 10.1097/TA.0000000000002944. PMID: 32941349

Impact of the 340B Pharmacy Program on Services and Supports for Persons Served by Hemophilia Treatment Centers in the United States.

Malouin RA, Mckernan L, Forsberg A, Cheng D, Drake J, McLaughlin K, Trujillo M
Matern Child Health J 2018 Sep;22(9):1240-1246. doi: 10.1007/s10995-018-2545-7. PMID: 29948762 Free PMC Article

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Recent clinical studies

Etiology

Natural anticoagulant discovery, the gift that keeps on giving: finding FV-Short.

Dahlbäck B
J Thromb Haemost 2023 Apr;21(4):716-727. Epub 2023 Feb 4 doi: 10.1016/j.jtha.2023.01.033. PMID: 36746318

See all (1)

Diagnosis

Factor V east Texas variant causes bleeding in a three-generation family.

Peterson JA, Gupta S, Martinez ND, Hardesty B, Maroney SA, Mast AE
J Thromb Haemost 2022 Mar;20(3):565-573. Epub 2021 Dec 7 doi: 10.1111/jth.15612. PMID: 34847292 Free PMC Article

Inherited disorders of the fibrinolytic pathway.

Jain S, Acharya SS
Transfus Apher Sci 2019 Oct;58(5):572-577. Epub 2019 Aug 8 doi: 10.1016/j.transci.2019.08.007. PMID: 31427261

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