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Zpráva o onemocněních · Hematological

Von Willebrand Disease

Whole genome sequencing reads the complete VWF gene (one of the largest in the genome at 178kb), distinguishing all 6 subtypes and identifying the specific variant that determines whether desmopressin, factor concentrate, or platelet transfusion is the correct treatment.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

An inherited bleeding disorder caused by a deficiency or dysfunction of von Willebrand factor, a protein essential for blood clotting.

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by quantitative or qualitative defects in von Willebrand factor (VWF), a large multimeric glycoprotein essential for platelet adhesion and as a carrier for coagulation factor VIII. VWD affects up to 1% of the population by laboratory criteria, though clinically significant disease requiring treatment is estimated at 1 in 1,000 to 1 in 10,000. VWD is classified into three major types: type 1 (partial VWF deficiency, ~70-80% of cases), type 2 (qualitative VWF defects, subdivided into 2A, 2B, 2M, and 2N), and type 3 (complete VWF deficiency, severe and rare).

Clinical presentation ranges from mild mucocutaneous bleeding (easy bruising, prolonged bleeding from cuts, menorrhagia (heavy menstrual bleeding), excessive bleeding after dental procedures) to life-threatening hemorrhage in type 3 VWD. VWD is one of the most commonly missed diagnoses in hematology: many patients are dismissed with 'easy bruising,' women with menorrhagia undergo years of investigation without VWD being considered, and surgical bleeding complications occur without prior genetic identification. Standard coagulation tests (PT, aPTT) are often normal in type 1 and some type 2 variants.

Treatment depends entirely on VWD subtype. Desmopressin (DDAVP), which releases stored VWF from endothelial cells, is effective in most type 1 patients but is contraindicated in type 2B (it worsens thrombocytopenia by releasing dysfunctional VWF that causes platelet agglutination). Type 2N and type 3 require VWF-containing factor VIII concentrate. Type 2A may or may not respond to DDAVP depending on the specific variant. This treatment-critical distinction between subtypes requires molecular VWF genotyping: phenotypic laboratory tests (VWF antigen, VWF activity, multimer analysis) can be ambiguous or fluctuating.

Type 2B VWD is worsened by desmopressin (DDAVP), the standard first-line VWD treatment, because the gain-of-function VWF variant causes spontaneous platelet binding. Administering DDAVP to a type 2B patient causes acute thrombocytopenia. Subtype identification before treatment is essential.

Onemocnění, které analyzujeme

Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).

Co se diagnózou změní

Type 1: desmopressin (DDAVP); type 2A: DDAVP trial or VWF concentrate; type 2B: VWF concentrate (DDAVP contraindicated); type 2M: DDAVP trial; type 2N: VWF/FVIII concentrate; type 3: VWF/FVIII concentrate; tranexamic acid for mucosal bleeding

Analyzované geny

Známé také jako

congenital von willebrand's disease; hereditary von Willebrand disease (hereditary or acquired); vascular haemophilia; vascular hemophilia; von Willebrand disease; von Willebrand disorder; von Willebrand's-Jurgens' disease; von Willebrand-Jurgens disease

Zahrnuje 11 příbuzných podtypů ↓
  • Bernard-Soulier syndrome, type A2, autosomal dominant
  • GP1BA-related Bernard-Soulier syndrome
  • platelet-type von Willebrand disease
  • von Willebrand disease 1
  • von Willebrand disease 2
  • von Willebrand disease 3
  • von Willebrand disease type 2A
  • von Willebrand disease type 2B
  • von Willebrand disease type 2M
  • von Willebrand disease type 2N
  • Von Willebrand disease, X-linked form
MONDO:0019565Orphanet 903MedGen 1814986

Proč sekvenování celého genomu

VWF laboratory phenotyping is notoriously variable: VWF levels fluctuate with stress, blood type, hormonal status, and acute illness. Molecular genotyping provides a permanent, unambiguous diagnosis that does not change with the patient's clinical state.

VWF levels fluctuate: a normal lab result does not exclude VWD, and the genotype provides a permanent answer

VWF is an acute-phase reactant: levels rise with stress, surgery, pregnancy, oral contraceptive use, and acute illness. Patients with type 1 VWD can have VWF levels that test within the normal range during acute illness or pregnancy, leading to false-negative laboratory results and missed diagnoses. The reverse also occurs: repeat testing during non-stressed states may produce abnormal results. This variability creates diagnostic uncertainty that is resolved permanently by molecular VWF genotyping. A confirmed VWF pathogenic variant establishes the diagnosis regardless of laboratory fluctuations and enables immediate subtype-specific treatment planning.

Women with undiagnosed VWD experience years of untreated menorrhagia and postpartum hemorrhage risk

Menorrhagia (heavy menstrual bleeding) is the most common presenting symptom of VWD in women. Studies estimate that 5-20% of women evaluated for menorrhagia have underlying VWD that was never investigated. These women undergo years of gynecological evaluation, iron supplementation, and sometimes hysterectomy without the underlying bleeding disorder being identified. During pregnancy, VWF levels rise physiologically (often normalizing by delivery), then drop rapidly postpartum, creating a high-risk window for postpartum hemorrhage. Genetic diagnosis before pregnancy enables prophylactic VWF replacement during delivery and the postpartum period.

Další hematological conditions

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

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