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Bleeding disorder, vascular-type(BDVAS)

MedGen UID:
1053592
•Concept ID:
CN376839
•
Disease or Syndrome
Synonym: BDVAS
 
Gene (location): APOLD1 (12p13.1)
 
Monarch Initiative: MONDO:0958229
OMIM®: 620715

Definition

Vascular-type bleeding disorder (BDVAS) is an autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Features include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. Platelet function is normal and platelet transfusion does not alleviate the bleeding (Stritt et al., 2023). [from OMIM]

Recent clinical studies

Etiology

Preoperative embolization for the treatment of cervical Castleman disease.
Sanchez-Ros-Sanchez A, Infante-Cossio P, Gonzalez-Garcia A, Borrero-Martin JJ
J Craniofac Surg 2012 May;23(3):e257-9. doi: 10.1097/SCS.0b013e318251880f. PMID: 22627451
Clinical and laboratory characterization of a large cohort of patients with Castleman disease retrospectively collected from a single center.
Dong Y, Na J, Lv J, Wang R, Chen X, Li N, Ren H
Leuk Lymphoma 2009 Aug;50(8):1308-17. doi: 10.1080/10428190903060095. PMID: 19579073
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome.
Faber P, Craig WL, Duncan JL, Holliday K
Acta Anaesthesiol Scand 2007 Oct;51(9):1277-9. Epub 2007 Aug 20 doi: 10.1111/j.1399-6576.2007.01416.x. PMID: 17714577

Diagnosis

Mimic or coincidentally? TAFRO syndrome and systemic lupus erythematosus: A case-based review.
Okyar B, Torun B, Öktem ES, Bahar AY, Yıldız F, Çetin GY
Mod Rheumatol Case Rep 2023 Jan 3;7(1):271-275. doi: 10.1093/mrcr/rxac045. PMID: 35538613
A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, Yamazaki S, Hatamochi A
Arch Dermatol Res 2010 Jul;302(5):395-9. Epub 2009 Jun 20 doi: 10.1007/s00403-009-0970-6. PMID: 19543901
Clinical and laboratory characterization of a large cohort of patients with Castleman disease retrospectively collected from a single center.
Dong Y, Na J, Lv J, Wang R, Chen X, Li N, Ren H
Leuk Lymphoma 2009 Aug;50(8):1308-17. doi: 10.1080/10428190903060095. PMID: 19579073
Ehlers-Danlos syndrome--vascular type (ecchymotic variant): cutaneous and dermatopathologic features.
Sharma NL, Mahajan VK, Gupta N, Ranjan N, Lath A
J Cutan Pathol 2009 Apr;36(4):486-92. doi: 10.1111/j.1600-0560.2008.01065.x. PMID: 19278438
Castleman disease in pregnancy.
Abramov Y, Nadjari M, Abrahamov A, Reinus C, Anteby SO
Obstet Gynecol 1997 Oct;90(4 Pt 2):653-4. doi: 10.1016/s0029-7844(97)00222-6. PMID: 11770581

Therapy

Glomeruloid hemangioma.
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome.
Faber P, Craig WL, Duncan JL, Holliday K
Acta Anaesthesiol Scand 2007 Oct;51(9):1277-9. Epub 2007 Aug 20 doi: 10.1111/j.1399-6576.2007.01416.x. PMID: 17714577
Fatal bleeding following delivery: a manifestation of the vascular type of Ehlers-Danlos' syndrome.
Björck M, Pigg M, Kragsterman B, Bergqvist D
Gynecol Obstet Invest 2007;63(3):173-5. Epub 2006 Dec 1 doi: 10.1159/000097659. PMID: 17139178
Reversible nonthrombocytopenic palpable purpura associated with metoclopramide.
Goad JA
Ann Pharmacother 1999 Jan;33(1):35-7. doi: 10.1345/aph.18058. PMID: 9972383
Enhancing mediastinal mass at MR: Castleman disease.
Hsieh ML, Quint LE, Faust JM, Turner JE
Magn Reson Imaging 1993;11(4):599-601. doi: 10.1016/0730-725x(93)90480-2. PMID: 8316074

Prognosis

Clinical and laboratory characterization of a large cohort of patients with Castleman disease retrospectively collected from a single center.
Dong Y, Na J, Lv J, Wang R, Chen X, Li N, Ren H
Leuk Lymphoma 2009 Aug;50(8):1308-17. doi: 10.1080/10428190903060095. PMID: 19579073
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
Glomeruloid hemangioma.
Yuri T, Yamazaki F, Takasu K, Shikata N, Tsubura A
Pathol Int 2008 Jun;58(6):390-5. doi: 10.1111/j.1440-1827.2008.02241.x. PMID: 18477219
Fatal bleeding following delivery: a manifestation of the vascular type of Ehlers-Danlos' syndrome.
Björck M, Pigg M, Kragsterman B, Bergqvist D
Gynecol Obstet Invest 2007;63(3):173-5. Epub 2006 Dec 1 doi: 10.1159/000097659. PMID: 17139178
Castleman disease in pregnancy.
Abramov Y, Nadjari M, Abrahamov A, Reinus C, Anteby SO
Obstet Gynecol 1997 Oct;90(4 Pt 2):653-4. doi: 10.1016/s0029-7844(97)00222-6. PMID: 11770581

Clinical prediction guides

A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome.
Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, Yamazaki S, Hatamochi A
Arch Dermatol Res 2010 Jul;302(5):395-9. Epub 2009 Jun 20 doi: 10.1007/s00403-009-0970-6. PMID: 19543901

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed

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