Von Willebrand disease – what are the causes and signs of Von Willebrand disease?

Von Willebrand Disease
Von Willebrand Disease

Introduction

Von Willebrand disease is the most common inherited bleeding disorder.

People with Von Willebrand disease (VWD) either have a deficiency of a blood protein called Von Willebrand factor, or this protein doesn’t work properly. This means that their blood cannot clot properly and they are prone to prolonged or excessive bleeding.

Von Willebrand factor acts like a glue which allows platelets (a type of blood cell) to stick together and to plug up damaged blood vessels. It also carries and protects another clotting factor called FVIII (factor 8).

Signs and symptoms

VWD can cause problems at any time from birth, but for many people the symptoms are so mild that they may never know they have it.

It’s estimated that around 1% of the UK population have reduced levels of Von Willebrand factor, but only a small minority have symptoms that might require medical attention.

Symptoms of VWD can include:

bruising easily

bleeding from the gums, nose and lining of the gut

prolonged bleeding from cuts

excessive bleeding after tooth extraction or surgery

in women, heavy periods

With treatment, even people with more severe symptoms can go on to lead normal and active lives.

What causes VWD?

VWD is usually caused by a fault in the gene responsible for the production of Von Willebrand factor. This genetic fault can be passed on to a child by one or both of their parents.

There are four different types of VWD. The condition is classified according to the amount and function of the Von Willebrand factor in the blood.

The main types are:

Type 1 – The mildest and most common type. People with type 1 VWD have a reduced level of Von Willebrand factor in their blood. Symptoms might be so mild they never know they have VWD. They don’t usually bleed spontaneously, but can bleed significantly if they have surgery, injure themselves or have a tooth removed.

Type 2 – In this type, which can itself be divided into four further subtypes, the Von Willebrand factor doesn’t work properly. The symptoms of type 2 VWD are often more severe than type 1, but milder than type 3.

Type 3 – People with this rare type have very low levels of Von Willebrand factor in their blood, or none at all. This causes problems similar to haemophilia. Bleeding from the mouth, nose and bowel from an early age is typical, and joint and muscle bleeds can occur after injury.

Pseudo, or platelet type – this is similar to type 2, but instead of the abnormality occurring in the Von Willebrand factor, it occurs in the platelets.

Types 1, 2 and pseudo-VWD are often passed on through “autosomal dominant inheritance”. This means that only one parent has to pass a copy of the faulty gene to their child for them to develop the condition.

Type 3 VWD is passed on through “autosomal recessive inheritance”. This means the child needs to inherit a copy of the faulty gene from both parents. In such cases, the parents may have no symptoms themselves because they may have only inherited a copy of the faulty gene from one of their own parents, rather than both.

Read more about genetic inheritance.

Diagnosing VWD

The symptoms of VWD can be mild and this can mean it is sometimes difficult to diagnose.

If a doctor suspects you may have VWD, you should be referred to a haematologist (a specialist in diagnosing and treating blood disorders) for tests and any necessary treatment.

A blood test can usually be carried out to diagnose the condition, although this may occasionally have to be repeated because levels of Von Willebrand factor can vary over time. You will also be asked about your family history to check if any other members of the family have a bleeding disorder.

Managing VWD

Mild VWD might not need any treatment, and you may be able to manage the condition by taking special precautions and making a few lifestyle changes.

Otherwise, three main treatments are available to either prevent or treat bleeding:

desmopressin – available as a nasal spray or injection

tranexamic acid – available as tablets, a mouthwash or an injection

Von Willebrand factor concentrate – this is purified from human plasma (from donated blood) and is given directly into a vein

Your doctor will explain which medication is suitable for you and when you should take it.

Your doctor will often recommend a “test dose” of desmopressin to check that it works well. Common side effects include facial flushing, palpitations, changes in blood pressure, and sometimes a mild headache. It can also cause fluid retention for up to 24 hours after it is taken, so your doctor will ask you to restrict the amount of fluid you drink after treatment.

Some advice on the use of these medications is given below, along with general lifestyle changes you can make.

General advice

Most people with VWD have the mildest type, type 1, and may not even realise they have it. They can live normal and active lives and take part in most sports and activities.

In more severe cases, contact sports may need to be avoided. Protective equipment should also be worn for certain activities where there is a risk of bleeding or bruising.

If someone with VWD has an accident or is scheduled for surgery, it is important that the doctor or surgeon is aware the person has the condition.

Due to the risk of excessive bleeding, boys at risk of VWD should not be circumcised without first speaking to a doctor.

Managing heavy periods

Girls and women with VWD who have heavy periods might want to carry extra pads or even a change of clothes in case of excessive bleeding.

They should get advice from their GP or gynaecologist about options to control their bleeding, these include:

the oral contraceptive pill

the intrauterine system (IUS)

tranexamic acid tablets

a desmopressin nasal spray

in severe cases, Von Willebrand factor concentrate

Read more about treating heavy periods.

Managing nosebleeds and other injuries

If bleeding does occur, applying pressure to the area may be all that’s needed. For example, someone who gets a nosebleed should put pressure on the bridge of the nose to help stop the bleeding.

Taking medication continuously to prevent bleeding and bruising is not usually necessary, although your doctor may prescribe desmopressin or tranexamic acid for you to take in the event of an injury or bleed.

Injections of Von Willebrand factor concentrate may be needed to treat injuries in people with type 3 or type 2 VWD, or particularly severe injuries in people with type 1 VWD.

Preventing bleeding before dental procedures or surgery

People with type 1 VWD can usually be treated with desmopressin before dental procedures or surgery.

Desmopressin temporarily boosts levels of Von Willebrand factor long enough to prevent bleeding during the procedure. Tranexamic acid is also often given in addition to desmopressin.

This may not necessarily be helpful in treating people with some forms of type 2 VWD, and is not at all effective in type 3 VWD (as there are no levels of Von Willebrand factor to boost). In these cases, injections of Von Willebrand factor concentrate may be needed instead.

Patients with type 1 also might need Von Willebrand factor concentrate before major surgery, although desmopressin and tranexamic acid usually offer enough protection against bleeding.

Advice for pregnant women

Levels of Von Willebrand factor often increase throughout pregnancy – but despite this, some pregnant women with VWD are at increased risk of bleeding complications during labour and after delivery.

As long as the doctors and midwives are aware of your condition, you can be monitored carefully and given treatment, if required, to prevent bleeding during and after delivery.

Gilbert’s syndrome – what are the signs and symptoms of Gilbert’s syndrome?

Gilbert's syndrome
Gilbert’s syndrome

Introduction

In Gilbert’s syndrome, slightly higher than normal levels of a substance called bilirubin build up in the blood.

Bilirubin is a yellow substance found naturally in the blood. It forms as a by-product when old red blood cells are broken down.

Symptoms of Gilbert’s syndrome

Most people with Gilbert’s syndrome experience occasional and short-lived episodes of jaundice (yellowing of the skin and whites of the eyes) due to the build-up of bilirubin in the blood.

As Gilbert’s syndrome usually only causes a slight increase in bilirubin levels, the yellowing of jaundice is often mild. The eyes are usually affected most.

Some people also report other problems during episodes of jaundice, including:

abdominal (tummy) pain

feeling very tired (fatigue)

loss of appetite

feeling sick

dizziness

irritable bowel syndrome (IBS) – a common digestive disorder that causes stomach cramps, bloating, diarrhoea and constipation

problems concentrating and thinking clearly (brain fog)

a general sense of feeling unwell

However, these problems aren’t necessarily thought to be directly related to increased bilirubin levels, and could indicate a condition other than Gilbert’s syndrome.

Around one in three people with Gilbert’s syndrome don’t experience any symptoms at all. Therefore, you may not realise you have the syndrome until tests for an unrelated problem are carried out.

When to see your GP

See your GP if you experience an episode of jaundice for the first time.

The jaundice of Gilbert’s syndrome is usually mild, but jaundice can be associated with more serious liver problems, such as cirrhosis or hepatitis C.

It’s therefore important to seek immediate medical advice from your GP if you have jaundice. If you can’t get in touch with your GP, contact NHS 111 or your local out-of-hours service for advice.

If you’ve been diagnosed with Gilbert’s syndrome (see below), you don’t usually need to seek medical advice during an episode of jaundice, unless you have additional or unusual symptoms.

What causes Gilbert’s syndrome?

Gilbert’s syndrome is a genetic disorder that’s hereditary (it runs in families). People with the syndrome have a faulty gene which causes the liver to have problems removing bilirubin from the blood.

Normally, when red blood cells reach the end of their life (after about 120 days), haemoglobin – the red pigment that carries oxygen in the blood – breaks down into bilirubin.

The liver converts bilirubin into a water-soluble form, which passes into bile and is eventually removed from the body in urine or stools. Bilirubin gives urine its light yellow colour and stools their dark brown colour.

In Gilbert’s syndrome, the faulty gene means that bilirubin isn’t passed into bile (a fluid produced by the liver to help with digestion) at the normal rate. Instead, it builds up in the bloodstream, giving the skin and white of the eyes a yellowish tinge.

Other than inheriting the faulty gene, there are no known risk factors for developing Gilbert’s syndrome. It isn’t related to lifestyle habits, environmental factors or serious underlying liver problems, such as cirrhosis or hepatitis C.

What triggers the symptoms?

People with Gilbert’s syndrome often find there are certain triggers that can bring on an episode of jaundice.

Some of the possible triggers linked with the condition include:

being dehydrated

going without food for long periods of time (fasting)

being ill with an infection

being stressed

physical exertion

not getting enough sleep

having surgery

in women, having their monthly period

Where possible, avoiding known triggers can reduce your chance of experiencing episodes of jaundice.

Who’s affected

Gilbert’s syndrome is common, but it’s difficult to know exactly how many people are affected because it doesn’t always cause obvious symptoms.

In the UK, it’s thought that at least 1 in 20 people (probably more) are affected by Gilbert’s syndrome.

Gilbert’s syndrome affects more men than women. It’s usually diagnosed during a person’s late teens or early twenties.

Diagnosing Gilbert’s syndrome

Gilbert’s syndrome can be diagnosed using a blood test to measure the levels of bilirubin in your blood and a liver function test.

When the liver is damaged, it releases enzymes into the blood. At the same time, levels of proteins that the liver produces to keep the body healthy begin to drop. By measuring the levels of these enzymes and proteins, it’s possible to build up a reasonably accurate picture of how well the liver is functioning.

If the test results show you have high levels of bilirubin in your blood, but your liver is otherwise working normally, a confident diagnosis of Gilbert’s syndrome can usually be made.

In certain cases, a genetic test may be necessary to confirm a diagnosis of Gilbert’s syndrome.

Living with Gilbert’s syndrome

Gilbert’s syndrome is a lifelong disorder. However, it doesn’t require treatment because it doesn’t pose a threat to health and doesn’t cause complications or an increased risk of liver disease.

Episodes of jaundice and any associated symptoms are usually short-lived and eventually pass.

If you have Gilbert’s syndrome, there’s no reason to modify your diet or the amount of exercise you do, and the recommendations about eating a healthy, balanced diet and the physical activity guidelines still apply.

However, you may find it useful to avoid the things you know trigger episodes of jaundice, such as dehydration and stress.

If you have Gilbert’s syndrome, the problem with your liver may also mean you’re at risk of developing jaundice or other side effects after taking certain medications. Therefore, seek medical advice before taking any new medication and make sure you mention to any doctors treating you for the first time that you have the syndrome.

Medications that shouldn’t be taken if you have Gilbert’s syndrome, unless advised by a doctor, include some types of HIV med, some types of medication for high cholesterol, and some chemotherapy.

Factor V Leiden – what are the signs and symptoms of Factor V Leiden?

Factor V Leiden
Factor V Leiden

Introduction

Thrombophilia is where the blood has an increased tendency to form clots.

It’s not a condition or a disorder itself, and is sometimes associated with blood clots (venous thromboses) that are caused by genetic changes (mutations).

If you have thrombophilia, you’re more likely to develop a blood clot in one of the large veins in your leg. This is known as deep vein thrombosis (DVT).

It’s important to be aware of the signs of a DVT, such as unexplained pain, swelling or tenderness in your leg (usually in your calf). See your GP as soon as possible if you have these symptoms (see below).

The blood clotting process

When you cut yourself, the bleeding usually triggers a number of chemical reactions in the blood.

The chemical reactions cause a blood clot to form, which sticks to the injured part of the blood vessel along with blood cells called platelets.

Clotting substances, known as clotting factors, help control bleeding and work with platelets to ensure the blood clots effectively.

However, in thrombophilia, there’s an imbalance in clotting chemicals and a person with the disorder either has too much clotting factor, or too little of the substance that prevents clotting.

Types of thrombophilia

There are many different types of thrombophilia. Some of the main types are outlined below.

Factor V Leiden

Factor V Leiden is a type of thrombophilia caused by a specific gene mutation.

It’s the most common type of inherited thrombophilia, with 3-8% of Europeans having one copy of the factor V Leiden mutation in each cell, and about one in 5,000 people having two copies of the mutation. It’s less common in other populations.

If you have Factor V Leiden, your risk of developing a DVT is increased (see above). There’s also a higher risk of blood clots breaking away from their original location and travelling to other areas of your body through your bloodstream.

This can be particularly serious if the blood clot becomes stuck in the main artery of your lungs (the pulmonary artery). This is known as a pulmonary embolism and it can be life-threatening (see below).

Prothrombin 20210 mutation

Prothrombin 20210 mutation, also known as Factor II mutation, is another genetic blood disorder that increases the risk of clots.

Prothrombin is a protein in the blood which helps it to clot (thicken). However, in some people, a mutation in the gene that produces prothrombin causes too much to be produced, resulting in an increased tendency for blood clots, such as DVTs, to form.

As with Factor V Leiden, prothrombin 20210 is more common in white people, particularly Europeans.

Protein C, protein S or antithrombin deficiency

Protein C, protein S, and antithrombin are natural anticoagulants (substances that prevent the blood from clotting).

If you have low levels of these anticoagulants, or if they don’t work properly, your risk of developing a DVT or pulmonary embolism is increased.

Problems with protein C, protein S or antithrombin can be inherited but are rare.

Antiphospholipid syndrome

Antiphospholipid syndrome, also known as Hughes syndrome, is an immune system disorder that increases the risk of blood clots.

Your body produces antibodies that attack phospholipids, a fat molecule thought to keep blood at the right consistency.

The antibodies bind to the phospholipids, increasing your risk of a blood clot developing in a vein or artery.

Symptoms of thrombophilia

Thrombophilia is often mild and many people don’t experience any health problems. Symptoms will only occur if the disorder causes a blood clot.

People with thrombophilia are particularly at risk of developing a DVT.

Warning signs of a DVT include:

pain, swelling and tenderness in one of your legs (usually your calf)

a heavy ache in the affected area

warm skin in the area of the clot

redness of your skin, particularly at the back of your leg below the knee

DVT usually, although not always, affects one leg. The pain may be worse when you bend your foot up towards your knee.

Part of the blood clot can sometimes break away and travel through the bloodstream. This is known as an embolism.

Embolisms can be dangerous if they become lodged in the lungs (pulmonary embolism). This is a serious and potentially life-threatening condition because it can prevent blood from reaching your lungs.

The symptoms of a pulmonary embolism are:

chest or upper back pain

shortness of breath

coughing – usually dry but you may cough up blood or mucus containing blood

feeling lightheaded or dizzy

fainting

See your GP immediately if you experience any combination of the above symptoms. Alternatively, you can call NHS 111 or contact your local out-of-hours service for advice. Dial 999 to request an ambulance if your symptoms are severe.

Diagnosing thrombophilia

Thrombophilia testing isn’t routinely carried out on everyone who has a blood clot.

Testing for inherited thrombophilia in people with venous thrombosis isn’t usually needed because the results don’t usually influence clinical decisions.

For example, decisions regarding the length of treatment should be made by taking into consideration whether or not venous thrombosis was provoked, whether other risk factors are present, and the risk of bleeding due to treatment with anticoagulants, regardless of whether inherited thrombophilia is present or not.

Thrombophilia is diagnosed by having blood tests weeks or months after your blood clot. The tests look for anticoagulant deficiencies. Before having the tests, you’ll usually have to wait until you’ve stopped taking anticoagulant medicine, such as warfarin, for four to six weeks.

If the blood test results indicate you have thrombophilia, you may be referred to a haematologist (a specialist in diagnosing and treating blood disorders).

Treating thrombophilia

Treatment may not be needed if you have mild thrombophilia.

If you develop a blood clot, you’ll need treatment for the blood clot and treatment to prevent further clots. You may need to take warfarin tablets or have an injection of heparin.

Warfarin and heparin

Warfarin and heparin are anticoagulants . They interfere with the clotting process and are commonly used to treat or prevent DVT and pulmonary embolisms.

If you need an anticoagulant to prevent a clot, you’ll be prescribed warfarin. It will take a few days to work properly.

If you need instant treatment for an existing clot, you’ll usually be given a heparin injection (which works straight away), as well as warfarin tablets for the first few days. The injection will either be given in hospital or at home.

A heparin injection may also be given to people with antiphospholipid syndrome, before and after surgery or during pregnancy. Unlike warfarin, heparin is safe to take in pregnancy.

International Normalised Ratio (INR) test

Your doctor will need to adjust your warfarin dose so your blood doesn’t clot easily, but isn’t too high to put you at risk of bleeding problems.

You’ll need to have a regular blood test called the International Normalised Ratio (INR) to measure your blood clotting ability while taking warfarin.

You’ll have the INR test less frequently once your ideal dose has been reached (an INR of two to three is usually the aim).

Lifestyle advice

If you have thrombophilia, it’s important you’re aware of the symptoms of a blood clot (see above), and that you see your GP immediately if you think you have one.

You should also take the following precautions to lower your risk of blood clots:

lose weight if you’re overweight

stop smoking if you smoke

eat a healthy, balanced diet and exercise regularly

avoid being immobile for long periods because this can cause a DVT (read more about preventing DVT)

If you’re pregnant, or planning to get pregnant, discuss this with your GP and inform the midwife and obstetrician about your condition.

You may need to take low-dose aspirin or an anticoagulant medicine while you’re pregnant to prevent problems occurring during pregnancy or miscarriage.

If you’re having a major operation, make sure you tell the healthcare professionals treating you about your condition. You may need a heparin injection to prevent a blood clot forming.

Women with thrombophilia should avoid taking the combined oral contraceptive pill or hormone replacement therapy (HRT) because they’ll further increase your risk of developing a blood clot.

World Sepsis Day – Tuesday 13 September – What are the signs and symptoms of sepsis?

World Sepsis Day 2016
World Sepsis Day 2016
What are the signs and treatment of sepsis?

“The figures are huge” says John Parker who is Leicester’s Hospitals Sepsis Lead Consultant , “every year in the UK there are 150,000 cases of Sepsis, resulting in a staggering 44,000 deaths – more than bowel, breast and prostate cancer combined. Unfortunately the initial signs are often ignored, an individual may say “I just felt like I had a bout of flu, stomach upset or chest infection” and so people don’t get any medical attention. Early diagnosis is essential, so we want to highlight the signs of Sepsis and raise its awareness.”

“It’s important to remember that sepsis is a medical emergency. Every minute and hour counts, especially since the infection can spread quickly. There’s no one symptom of sepsis, but rather it has a combination of symptoms.”

Sepsis is caused by the way the body responds to germs, such as bacteria, getting into your body. The infection may have started anywhere in a sufferer’s body, and may be only in one part of the body or it may be widespread. Sepsis can occur following chest or water infections, problems in the abdomen like burst ulcers, or simple skin injuries like cuts and bites.

“A lot of people will more readily know sepsis as septicaemia or blood poisoning and whilst diagnosis and treatment can be different for adult and children, the basic signs to look out for are:

S lurred speech
E xtreme shivering or muscle pain
P assing no urine (in a day)
S evere breathlessness
I feel like I might die
S kin mottled or discoloured

Amandeep Sadhra who has recovered from sepsis says “I was just going about my normal day, when I noticed a rash on my hand, I didn’t really take any notice of it as I suffer from eczema, but during the course of the day it got worse and was throbbing a lot. By the time I got home after work, I felt very tired and had no appetite. I decided to just take some paracetamol and go to bed. The next day I felt no better and didn’t want to get up and my hand had ballooned up like a boxing glove and I was starting to shiver, I felt like I was getting a fever. It was at this time my husband said we should go to the Emergency Department.

“I received scans, a blood test and was advised that as there was a lot of fluid on my hand that I would have to have an operation, but during the course of the night the doctor advised me that my blood pressure was dropping and the antibiotics were not working and I was going to be transferred to intensive care. The next day I was taken for my operation and woke up five or so days later after my procedure. I was then advised that I had been very ill after my operation, suffering from multiple organ failure, slight pneumonia and it was decided to continue my sedation. I was then advised that I had Sepsis.”

“It was a life-changing event, I had always been fit and healthy but after being discharged from hospital it has taken me several months to recuperate, go back to work, get back to normal. You never think something like this could happen to you, particularly from something so minimal like a skin rash to something life threatening.”

If you suspect sepsis, get medical attention immediately.

Blood Donation: The Easy Way to Save Lives

It seems hard to believe that a single unit of blood can save up to three people’s lives, but that is the truth. By giving up this small sample of our blood, along with little more than an hour of our time, we could possible give three people a second chance in life. One of those could be a family member or a friend who is urgently in need of a donation. A small sacrifice for you is quite possibly a life-saving intervention for them.

Blood Donation - The Easy Way to Save Lives
Blood Donation – The Easy Way to Save Lives

Deciding to give blood isn’t as simple as wanting to give it, though. A number of factors could deem your blood unsuitable for donation, such as any recent pregnancy or childbirth, or undergoing a major operation inside the last six months. While wanting to donate blood is admirable, you should only make a donation if you are sure that your blood would be safe to give to another person. This process can be further complicated by the requirement for compatibility between donor and recipient. People of type A blood, for instance, will not be able to receive from anyone with blood types B or AB, as the presence of the B antigen would cause an antibody against the A antigen and potentially lead to a fatal reaction.

This infographic from Union Quay Medical Centre (http://www.unionquaymedicalcentre.ie/general-practice.html) in Ireland tells you everything you need to know before donating blood for the first time, such as the compatibility of blood groups, the eligibility of donation and the before, during and after of the actual donation process. If you’re thinking of becoming a first-time donor but you have unanswered questions, the guide below could address those uncertainties, so why not take a few minutes to read through it?