Von Willebrand disease causes: Difference between revisions

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{{CMG}}
{{CMG}}
==Overview==
==Overview==
__NOTOC__
{{Von Willebrand disease}}
{{CMG}}
==Overview==
==Causes==
==Causes==
[[VWD]] is caused by a quantitative or qualitative defect in [[vWF]].  [[Von Willebrand Factor]] binds [[platelets]] to [[collagen]] and is important in primary [[hemostasis]].  It also serves as a carrier for [[Factor VIII]] and prevents it form being degraded.  Most cases of vWD are due to inherited mutations that affect production of vWF.  There are also acquired forms of vWD where vWF is impaired due to other pathological processes. Acquired defects in [[vWF]] can be caused by a number of conditions including:<ref name="pmid4172730">{{cite journal| author=Simone JV, Cornet JA, Abildgaard CF| title=Acquired von Willebrand's syndrome in systemic lupus erythematosus. | journal=Blood | year= 1968 | volume= 31 | issue= 6 | pages= 806-12 | pmid=4172730 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=4172730  }} </ref><ref name="pmid1083062">{{cite journal| author=Wautier JL, Levy-Toledano S, Caen JP| title=Acquired von Willebrand's syndrome and thrombopathy in a patient with chronic lymphocytic leukaemia. | journal=Scand J Haematol | year= 1976 | volume= 16 | issue= 2 | pages= 128-34 | pmid=1083062 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1083062  }} </ref><ref name="pmid17133419">{{cite journal| author=Franchini M, Lippi G| title=Acquired von Willebrand syndrome: an update. | journal=Am J Hematol | year= 2007 | volume= 82 | issue= 5 | pages= 368-75 | pmid=17133419 | doi=10.1002/ajh.20830 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17133419  }} </ref><ref name="pmid21540459">{{cite journal| author=Tiede A, Rand JH, Budde U, Ganser A, Federici AB| title=How I treat the acquired von Willebrand syndrome. | journal=Blood | year= 2011 | volume= 117 | issue= 25 | pages= 6777-85 | pmid=21540459 | doi=10.1182/blood-2010-11-297580 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21540459  }} </ref><ref name="pmid11838652">{{cite journal| author=Kumar S, Pruthi RK, Nichols WL| title=Acquired von Willebrand disease. | journal=Mayo Clin Proc | year= 2002 | volume= 77 | issue= 2 | pages= 181-7 | pmid=11838652 | doi=10.4065/77.2.181 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11838652  }} </ref><ref name="pmid10959686">{{cite journal| author=Veyradier A, Jenkins CS, Fressinaud E, Meyer D| title=Acquired von Willebrand syndrome: from pathophysiology to management. | journal=Thromb Haemost | year= 2000 | volume= 84 | issue= 2 | pages= 175-82 | pmid=10959686 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10959686  }} </ref><ref name="pmid10959711">{{cite journal| author=Federici AB, Rand JH, Bucciarelli P, Budde U, van Genderen PJ, Mohri H et al.| title=Acquired von Willebrand syndrome: data from an international registry. | journal=Thromb Haemost | year= 2000 | volume= 84 | issue= 2 | pages= 345-9 | pmid=10959711 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10959711  }} </ref>
====Heart-related conditions====
*[[Mitral valve prolapse]]
*Ventricular assist device
*[[Ventricular septal defect]]
*[[Aortic stenosis]]
====Malignant diseases====
*Monoclonal gammopathy of undetermined significance
*Leukemia example [[chronic myeloid leukemia]] and [[chronic lymphocytic leukemia]]
*[[Wilms tumor]]
*[[Waldenström macroglobulinemia]]
*[[Essential thrombocythemia]]
*[[Multiple myeloma]]
*[[Non-Hodgkin lymphoma]]
*[[Polycythemia vera]]


VWD is caused by a quantitative or qualitative defect in vWF.  Von Willebrand Factor binds platelets to collagen and is important in primary hemostasis.  It also serves as a carrier for Factor VIII and prevents it form being degraded.  Most cases of vWD are due to inherited mutations that affect production of vWF.  There are also acquired forms of vWD where vWF is impaired due to another process.
====Drugs and other agents====
*[[Valproic acid]]
* [[Ciprofloxacin]]
*[[Griseofulvin]]


There are three types of inherited vWD, caused by different defects in vWF:
====Autoimmune disorders====
* Type 1: Quantitative defect of vWF, but the protein functions properly.  There is just less vWF than there should be.  This is the most common form.
*[[Systemic lupus erythematosus]]
* Type 2: A group of quantitative defects in vWF.  There are four subtypes
** Type 2A: Loss of just high molecular weight vWF multimers due to either defects in assembly or increased vulnerability to cleavage by vWF-protease.  High weight multimers are the most active, so loss of these causes increased bleeding.
** Type 2B: Stronger than normal binding of vWF to platelets leads to loss of high weight multimers from circulation.
*** Platelet type vWD (or pseudo-vWD) is caused by a gain-of-function mutation in the platelet receptor that also leads to stronger binding to vWF
** Type 2N: Loss of ability of vWF to bind to factor VIII.  Behaves similar to a mild hemophilia A due to decreased factor VIII levels.
** Type 2M: vWF dysfunction due to defective binding to platelets
* Type 3: Complete absence of vWF.<ref>Favarolo et al. Von Willebrand Disease and Platelet Disorders.  Hemophilia 2014; 20: 59-64.</ref>


Acquired defects in vWF can also be due to a number of conditions including hematologic malignancies and aortic stenosis (Heyde syndrome).
====Other disorders====
*[[Hypothyroidism]]
*[[Uremia]]
*[[Hemoglobinopathies]]
*[[Angiodysplasia]]


==References==
==References==

Revision as of 22:54, 29 November 2016

Von Willebrand disease Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Von Willebrand disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Von Willebrand disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Von Willebrand disease causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Von Willebrand disease causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Von Willebrand disease causes

on Von Willebrand disease causes

Von Willebrand disease causes in the news

Blogs on Von Willebrand disease causes

Directions to Hospitals Treating Von Willebrand disease

Risk calculators and risk factors for Von Willebrand disease causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Overview

Causes

VWD is caused by a quantitative or qualitative defect in vWF. Von Willebrand Factor binds platelets to collagen and is important in primary hemostasis. It also serves as a carrier for Factor VIII and prevents it form being degraded. Most cases of vWD are due to inherited mutations that affect production of vWF. There are also acquired forms of vWD where vWF is impaired due to other pathological processes. Acquired defects in vWF can be caused by a number of conditions including:[1][2][3][4][5][6][7]

Heart-related conditions

Malignant diseases

  • Monoclonal gammopathy of undetermined significance

Drugs and other agents

Autoimmune disorders

Other disorders

References

  1. Simone JV, Cornet JA, Abildgaard CF (1968). "Acquired von Willebrand's syndrome in systemic lupus erythematosus". Blood. 31 (6): 806–12. PMID 4172730.
  2. Wautier JL, Levy-Toledano S, Caen JP (1976). "Acquired von Willebrand's syndrome and thrombopathy in a patient with chronic lymphocytic leukaemia". Scand J Haematol. 16 (2): 128–34. PMID 1083062.
  3. Franchini M, Lippi G (2007). "Acquired von Willebrand syndrome: an update". Am J Hematol. 82 (5): 368–75. doi:10.1002/ajh.20830. PMID 17133419.
  4. Tiede A, Rand JH, Budde U, Ganser A, Federici AB (2011). "How I treat the acquired von Willebrand syndrome". Blood. 117 (25): 6777–85. doi:10.1182/blood-2010-11-297580. PMID 21540459.
  5. Kumar S, Pruthi RK, Nichols WL (2002). "Acquired von Willebrand disease". Mayo Clin Proc. 77 (2): 181–7. doi:10.4065/77.2.181. PMID 11838652.
  6. Veyradier A, Jenkins CS, Fressinaud E, Meyer D (2000). "Acquired von Willebrand syndrome: from pathophysiology to management". Thromb Haemost. 84 (2): 175–82. PMID 10959686.
  7. Federici AB, Rand JH, Bucciarelli P, Budde U, van Genderen PJ, Mohri H; et al. (2000). "Acquired von Willebrand syndrome: data from an international registry". Thromb Haemost. 84 (2): 345–9. PMID 10959711.

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