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Von Willebrand Disease

Von Willebrand Disease (VWD) is the most common inherited bleeding disorder diagnosed in women with heavy abnormal uterine bleeding, due to a coagulation defect. Women with this disease may also have some tendency to bruising/nosebleeds in childhood but it will be when they get there first period that deficiency in von Willebrand factor – an essential protein required for both normal platelet function and as a co-factor to Factor VIII in the clotting cascade, most frequently presents.

A parent with VWD has a 50 per cent chance of passing the affected gene on to each child. VWD can affect both men and women. Sometimes genes mutate or change and can skip generations. Sometimes a child may have VWD but there was no family history of the condition. This means that VWD can occur in any family.

Women with this condition will present with excessive or prolonged bleeding with all other investigations normal (e.g. structural abnormalities are excluded). The diagnosis of Von Willebrand’s disease is by means of a coagulation screen and vWF antigen testing.

History behind Von Willebrand’s disease

Von Willebrand’s disease is named after Dr Erik Adolf von Willebrand, a Finnish paediatrician. In 1924, a 5-year-old girl was brought to the hospital in Helsinki where von Willebrand worked. He diagnosed her with a bleedingdisorder which he recognised was different from the haemophilia which was initially suspected. He subsequently assessed 66 members of her family and in 1926 first described the disease and its inheritance. Von Willebrand’s disease is the commonest coagulation defect in humans-but is also seen in dogs (notably Doberman Pinschers),and more rarely in swine, cattle, horses, and cats.

Symptoms of Von Willebrand’s Disease

Many people with the disease do not have any symptoms. Those who do may find that they:

  • have lots of nosebleeds
  • bruise easily
  • have heavy menstrual (period) flow
  • bleed excessively from the mouth.
  • The presence in your menstrual flow of blood clots greater than 1 inch (2.5 centimeters) in diameter
  • The need to change your menstrual pad or tampon more often than hourly
  • The need to use double sanitary protection to control menstrual flow
  • Symptoms of anemia, including tiredness, fatigue or shortness of breath

There are three main types of VWD:

  • Type 1
  • Type 2
  • Type 3.

These can be broken down into further categories. The most common are types 2A and 2B.

Complications of von Willebrand disease may include:

  • Anaemia– Women who experience heavy menstrual bleeding are more at risk of iron deficiency anaemia.
  • Swelling and pain-If abnormal bleeding occurs in the joints or soft tissue, swelling and severe pain can result.
  • Death from bleeding –Rarely, someone with Von Willebrand’s Disease may experience uncontrolled bleeding that can be life-threatening and needs emergency medical attention.

There are hormones and other medications that can help with the acute bleeding that can present with VWD.

Although Von Willebrand’s Disease is the most common pathology, other bleeding disorders including thrombocytopaenia and haemophilias should be considered. Consultation with a haematologist should be considered when a coagulation defect is diagnosed, or when the history suggests a clotting disorder. The main aim is to to manage the underlying disease but to also help with effective menstrual regulation (usually with combined contraceptive pills).

Regards

Dr Andrew Orr

Women’s and Men’s Health Advocate

-No Stone Left Unturned

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Genetics & Gene Sequencing May Be The Path To a Cure for Endometriosis

I have always said that the biggest inroads to the management and treatment of endometriosis will come from the area of genetics. I’ve also said that if there is going to be a cure, this will be the pathway that is comes from.

New research published in the New England Journal of Medicine has revealed that Gene sequencing has found a set of genetic mutations which may help to develop molecular tests to distinguish between mild and aggressive types of endometriosis. This is a big step forward into finding out more about endometriosis and developing better medical treatments and management strategies. Hopefully one day it will also lead to a cure for women with this horrible disease.

Endometriosis is a painful disorder in women which uterine tissue grows outside of the womb, most commonly into the abdomen, and will affect at least 1 in 10 women. It can spread to every part of the body.

Many women with endometriosis will experience symptoms of abdominal pain, migraines, pain with sex, ovulation pain, IBS like symptoms, UTI like symptoms (without infection present), menstrual cramps, abdominal distension and possible issues with infertility.

Endometriosis can affect both physical and mental health in sufferers. While a portion of women with endometriosis get pain and associated symptoms, it needs to be noted that a significant portion of women with endometriosis are asymptomatic (no symptoms) and would not even know that had it, until they are investigated for fertility purposes.

This discovery helps moves towards developing genetic based systems for classifying endometriosis to sort out which forms of the disorder needs more aggressive treatment. Presence of the unusual set of mutations suggest that while origins are rooted in normal endometrial cells mutations change their fate, the mutations identified have links to genetic mutations found in some forms of cancer. Abnormal endometriosis tissue growth will often spread throughout the abdominal cavity but rarely becomes cancerous with exception to a few cases when the ovaries are involved.

The close links to cancer have always baffled scientists, as endometriosis does behave like a cancer the way it spreads, and now they have found some of the same mutations found in cancers, in some of the endometriosis lesions. But again, endometriosis rarely turns cancerous, except if it does spread to the ovaries, but there have been some studies to suggest links that women with endometriosis may be at more risk of endometrial cancer.

In this latest research, the research scientists analysed the samples looking for mutations or abnormal changes in DNA and filtered out normal variations in genes which commonly occur. At least one or more mutations in endometriosis tissue that were not present in their normal tissue, in which the number and type of mutations varied per endometriosis lesion and each woman.The types of mutations found were among the most common mutated genes found, which are all known for DNA repair, controlling cell growth, and cell invasion.

The researchers are working on additional studies to investigate whether patient outcomes correlate with the mutations. Testing which can sort lesions into less or more aggressive has potential to help decide how to monitor progression as well as control and treat the endometriosis. It may also be possible to develop new treatments which use agents that block gene related pathways specific to an individual’s disease.

Women are normally prescribed anti-hormonal treatments, which block estrogen to shrink lesions. Endometriosis is estrogen driven and is not from estrogen dominance, as some people would have women believe. Even small amounts of estrogen can drive the disease and cause the expression of the lesions. When endometriosis occurs on the ovaries and forms a large cyst, or endometrioma, it is typically removed as it increases the risk of developing ovarian cancer in some women.

While this new development is not a cure for endometriosis, it is providing new insights into the disease, which will hopefully one day see a cure in the not so distant future. Lets help end the silence for women with this horrible disease by getting more awareness out there and let us hope that the cure will eventually come one day soon.

Regards
Dr Andrew Orr
-No Stone Left Unturned
-Period Pain IS NOT Normal
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