Von Willebrand Disease (VWD) - Blood disorder where blood does not clot properly

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Von Willebrand Disease (VWD) - Blood disorder where blood does not clot properly

Symptoms

Bruises

Excessive bleeding (Nose, gums, menstral)

Lack of Von Willebrand Factor

Glycoprotein

Platelet adhesion

Types

Autosomal Recessive

Type 3

Rarest, most severe

Autosomal Dominant

Type 1

Mildest, most common

Mutations

Harmful Mutation

Mutation on chromosome 12

Pseudogene duplicated on chromosome 22

Lack of Von Williebrand Factor (VWF)

Inability to make proper blood clots

Inheritance

Equal Chance of Male/Female carrying VWD

Receiving VWD Allele from parent

Directional Selection

Type O blood with lower levels of VWF

Types A, B, AB blood have higher levels of the VWF

How has Von Willebrand Disease relate to evolution?

Learning to increase VWF

Treatments

Antifibrinolytics

Drugs that blood clots to breakdown

VWF infusions

Receive regular VWF infusions

Desmopressin (1977)

Hormonal injection that stimulates body to create more VWF in blood vessels

Selective Breeding

Symbiosis between humans and dogs

Breeding Dogs

Spontaneous hemorrhages

Shetland Sheepdogs

Scottish Terriers

Doberman Pinscher

Propagation

Identified by Erik Adolf Von Willebrand in 1924

In 1960s, combined with factor FVIII and plasma responsible for platelet adhesion

In 1970s, found Ristocetin to induce platelet aggregation