I am a 27 year old female, I lived in europe for a good part of my life but relocated back to US with husband and received prenatal care. Doc wanted to know why I have a rare blood disorder VonWillibrands known more tipically as the "royal blood disorder", My family is easy to investigate they asked why I had it, I told them my family is from aristocracy, why am I being victimized in a small town? Phsycs say I have a delusional disorder, to go on to say my ENTIRE family does, what do I do? Child welfare has already been involved I am lost this is rediculous help please I dont want to result to attorneys its not necessary. How Do I prove something thats blatently obvious?
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Answers
Can you rewrite this a little more clearly so we can understand what's going on?
I googled Von willebrand and there was many sites to explain the disease.....so maybe you should go to another doctor who would be more symphathic?
Introduction
Background
Although referred to as a single disease, von Willebrand disease (VWD) is in fact a family of bleeding disorders caused by an abnormality of the von Willebrand factor (VWF). VWD is the most common hereditary bleeding disorder.
First described by Erik Adolf von Willebrand in 1926, VWD is a congenital bleeding disorder characterized by a lifelong tendency toward easy bruising, frequent epistaxis, and menorrhagia.
Pathophysiology
VWD is due to an abnormality, either quantitative or qualitative, of the VWF, which is a large multimeric glycoprotein that functions as the carrier protein for factor VIII (FVIII). VWF also is required for normal platelet adhesion. As such, VWF functions in both primary (involving platelet adhesion) and secondary (involving FVIII) hemostasis. In primary hemostasis, VWF attaches to platelets by its specific receptor to glycoprotein Ib on the platelet surface and acts as an adhesive bridge between the platelets and damaged subendothelium at the site of vascular injury. In secondary hemostasis, VWF protects FVIII from degradation and delivers it to the site of injury.
VWF is composed of dimeric subunits that are linked by disulfide bonds to form complex multimers of low, intermediate, and high molecular weights. The small multimers function mainly as carriers for FVIII.
High molecular weight multimers have higher numbers of platelet-binding sites and greater adhesive properties. Each multimeric subunit has binding sites for the receptor glycoprotein Ib on nonactivated platelets and the receptor glycoprotein IIb/IIIa on activated platelets. This facilitates both platelet adhesion and platelet aggregation, making high molecular weight multimers most important for normal platelet function.
VWd types
VWD can be classified into 3 main types, of which 70-80% are considered to be type 1.
Type 1 VWD is characterized by a partial quantitative decrease of qualitatively normal VWF and FVIII. An individual with type 1 VWD generally has mild clinical symptoms, and this type usually is inherited as an autosomal dominant trait; however, penetrance may vary dramatically in a single family. In addition, clinical and laboratory findings may vary in the same patient on different occasions. Typically, a proportional reduction in VWF activity, VWF antigen, and FVIII exists with type 1 VWD.
Of patients with VWD, 15-20% have type 2 disease. VWD type 2 is a variant of the disease with primarily qualitative defects of VWF. Type 2 VWD can be either autosomal dominant or recessive. Of the 5 known type 2 VWD subtypes (ie, 2A, 2B, 2C, 2M, 2N), type 2A VWD is by far the most common.
Type 2A VWD is inherited as an autosomal dominant trait and is characterized by normal-to-reduced plasma levels of factor VIIIc (FVIIIc) and VWF. Analysis of VWF multimers reveals a relative reduction in intermediate and high molecular weight multimer complexes. The multimeric abnormalities are commonly the result of in vivo proteolytic degradation of the VWF. The ristocetin cofactor activity is greatly reduced, and the platelet VWF reveals multimeric abnormalities similar to those found in plasma.
Type 2B VWD also is inherited as an autosomal dominant trait. This type is characterized by a reduction in the proportion of high molecular weight VWF multimers, while the proportion of low molecular weight fragments are increased. Patients with type 2B VWD have a hemostatic defect caused by a qualitatively abnormal VWF and intermittent thrombocytopenia. The abnormal VWF has an increased affinity for platelet glycoprotein Ib. The platelet count may fall further during pregnancy, in association with surgical procedures, or after the administration of desmopressin acetate (DDAVP). Although some investigators found DDAVP to be clinically useful in persons with type 2B VWD, studies directed at excluding the 2B variant should be completed before DDAVP is used therapeutically. Measurements of FVIIIc and VWF in plasma are variable; however, studies involving the use of titered doses of ristocetin reveal that aggregation of normal platelets is enhanced and induced by unusually small amounts of the drug.
In patients with the rare type 2M VWD, laboratory results are similar to those of certain patients with type 2A VWD. Type 2M VWD is characterized by a decreased platelet-directed function that is not due to a decrease of high–molecular weight multimers. Laboratory findings show decreased VWF activity, but VWF antigen, FVIII, and multimer analysis are found to be within reference range.
Type 2N VWD is also rare and is characterized by a markedly decreased affinity of VWF for FVIII, resulting in FVIII levels reduced to usually around 5% of the reference range. Other VWF laboratory parameters (ie, VWF antigen [VWF:Ag], ristocetin cofactor activity) are usually normal. The FVIII-binding defect in these patients is inherited in an autosomal recessive manner. Evaluate patients with FVIII deficiency and a bleeding disorder that is not clearly transmitted as an X-linked disorder or those who respond incompletely to hemophilia A therapy for type 2N VWD. Unfortunately, the confirmatory test for type 2N VWD is not routinely available, likely resulting in an underestimate of the true frequency of this subtype.
Type 3 is the most severe form of VWD. In the homozygous patient, type 3 VWD is characterized by marked deficiencies of both VWF and FVIIIc in the plasma, the absence of VWF from both platelets and endothelial cells, and a lack of response to DDAVP. Type 3 VWD is characterized by severe clinical bleeding and is inherited as an autosomal recessive trait. Consanguinity is common in kindreds with this variant. Less severe clinical abnormalities and laboratory abnormalities may be identified in occasional heterozygotes; however, such cases are difficult to identify. Multimeric analysis of the small amount of VWF present yields variable results, in some cases revealing only small multimers.
Frequency
United States
VWD is estimated to affect fewer than 3% of the population.
International
Prevalence worldwide is estimated at 0.9-1.3%.
Mortality/Morbidity
The morbidity in individuals with VWD is variable. Many children with VWD are asymptomatic. Some of these children have cutaneous and/or mucus membrane bleeding (eg, easy bruising, epistaxis).
Menorrhagia is a common symptom in females with VWD. It occurs in more than 50% of women with VWD and may be the only clinical manifestation of the disease.
The rare type 3 VWD can manifest with severe bleeding symptoms similar to severe hemophilia (eg, hemarthrosis, intramuscular bleeding).
Race
No influence of ethnicity on the prevalence of VWD exists.
Sex
VWD affects males and females in equal numbers.
Age
VWD is a congenital bleeding disorder and can be diagnosed at any age.
Clinical
History
Many children with von Willebrand disease (VWD) are asymptomatic and are diagnosed as a result of a positive family history or during routine preoperative screening (eg, prolonged bleeding time). Importantly, remember that a wide variation in clinical manifestations exists, even for members of the same family.
The history may reveal the following:
Increased or easy bruising
Recurrent epistaxis
Menorrhagia
Postoperative bleeding (particularly after tonsillectomy or dental extractions)
Family history of a bleeding diathesis
Bleeding from wounds
Gingival bleeding
Postpartum bleeding
Physical
The physical exam may be normal, but the following may be present:
Increased bruises
Mucosal bleeding
Causes
VWD is caused by an inherited defect that results in a deficiency or dysfunction of von Willebrand factor (VWF). The gene for VWF is on the short arm of chromosome 12. It spans approximately 180 kilobases (kb) and is composed of 52 exons. Exons range in size from 40 base pairs (bp) to 1.4 kb. Various point mutations, insertions, and deletions at the VWF locus have been described.
In some cases, VWD is believed to result from other pathologic processes; however, because of the relatively high prevalence of VWD, its concomitant occurrence with other disease states may be coincidental.
Nevertheless, acquired forms of VWD can be observed in the following conditions:
Wilms tumor
Congenital heart disease
Systemic lupus erythematosus
Angiodysplasia
Seizure disorders treated with valproic acid
Hypothyroidism
References
Contents
Overview: Von Willebrand Disease
Differential Diagnoses & Workup: Von Willebrand Disease
Treatment & Medication: Von Willebrand Disease
Follow-up: Von Willebrand Disease
check out this web page: http://www.hemophilia.org and look for Von Willebrand Disease; what do u mean when the doctor said u have a delusional disorder?
It is known by history that through some royal families ran the hemophilia in blood due to mixed marriages in between same family members.
yes I know thats what i am saying its like because I havent made an a** out of myself like britney spears all of a sudden im as cooky as anna nicole... Or maybe its just getting in their 15 minutes of fame to try and solve this mystery thats just simply just not there... I think the Bible talks about people like this.
I like what kitty and stitlskin say...can/could you find a new doctor or talk to someone else in the medical field about what you told us?
Perhaps they could help?
Best,
Clyde