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A to Z of Medical Conditions

Leave a comment Posted on December 14, 2017December 14, 2017 A to Z of Medical Conditions

Blood clots – find out the signs and symptoms of blot clots!

Blood clots

Introduction

[Original article on NHS Choices website]

Every year, thousands of people in the UK develop a blood clot in a vein. It’s known as venous thromboembolism (VTE) and is a serious, potentially fatal, medical condition.

VTE is the collective name for:

deep vein thrombosis (DVT) – a blood clot in in one of the deep veins in the body, usually in one of the legs

pulmonary embolism – a blood clot in the blood vessel that carries blood from the heart to the lungs

Although serious, most blood clots can be completely avoided. The key is to be aware if you’re at risk and take some simple preventative steps.

This article is about blood clots in veins. If you want information on blood clots in arteries, which is a common cause of heart attack and stroke, see the topic on arterial thrombosis.

Who gets blood clots?

Anyone can get a blood clot, but you’re more at risk if you can’t move around much or if you’re unwell.

You’ve probably heard of blood clots linked to long-haul plane journeys or the contraceptive pill, but most blood clots actually develop during or just after a stay in hospital.

Your risk is also increased if you:

are over 60 years old

are overweight or obese

have had a blood clot before

are having hormone replacement therapy (HRT)

are pregnant or have recently given birth

are dehydrated

have cancer or are having cancer treatment

have a condition that causes your blood to clot more easily than normal, such as antiphospholipid syndrome

The rest of this topic will focus on blood clots linked with admission to hospital.

Hospital-acquired blood clots

In 2005, a House of Commons Health Committee report stated that every year in England an estimated 25,000 deaths occur as a result of hospital-acquired VTE.

The report also stated that the estimated number of deaths due to VTE, “is more than the combined total of deaths from breast cancer, AIDS and traffic accidents, and more than 25 times the number who die from MRSA“.

The government recognises that deaths from hospital blood clots are preventable and has recommended that all patients admitted to hospital should be assessed for their risk of developing blood clots, and measures to reduce this risk should be taken when appropriate.

Assessing your risk of blood clots

When you arrive at hospital, you should be checked for your risk of blood clots. Hospital staff will record your age and weight and ask you about your general health. The assessment will also take into account the reason for your hospital stay.

Your risk of clots is likely to be higher, for instance, if you’re having a major operation, if you’re going to be confined to bed for long periods, or if you have any of the other “risk factors” mentioned above.

If the assessment shows that you’re at risk of a blood clot, you should be offered preventative treatment. The options include blood-thinning medication (anticoagulants) and compression stockings or foot pumps to keep your blood circulating and help prevent any clots forming.

Hospital staff should check whether bleeding might be a problem before offering medication to help prevent clots.

If you’ve been admitted to hospital and you haven’t had your blood clot risk checked, it’s important that you ask a doctor or nurse. Equally, if you’ve been told you’re at risk of clots and have been given medicine, stockings or other devices, it’s important that you understand how to use them properly.

Don’t be afraid to ask hospital staff about reducing your risk of blood clots – it could save your life.

Questions you might like to ask your healthcare team about blood clots are:

am I at risk of blood clots?

how likely am I to have bleeding problems?

what happens if I have problems with a medication or treatment I am having to help prevent clots?

Reducing your risk of blood clots

There are things you and the medical professionals looking after you can do before, during and after your hospital stay to minimise your risk of developing a blood clot.

Before coming into hospital

You can help yourself before coming into hospital by:

trying to lose any excess weight

keeping as mobile as you can

talking to your doctor if you take HRT or the combined contraceptive pill – you may need to stop them a few weeks before your operation

While in hospital

While you’re in hospital, you will reduce your chances of a blood clot if you:

drink plenty of fluids to keep hydrated

wear your compression stockings day and night (except when you’re washing)

wear any other compression devices you’ve been given

take any blood-thinning medicines you’ve been offered

get up and move around as soon as you’re advised to

After leaving hospital

You’re still at risk of developing a blood clot in the days and weeks after leaving hospital, so you might be advised to continue preventative measures for a short period. Your care team will discuss this with you before you are discharged.

You may be given compression stockings to wear until you are fully mobile, and you may need to keep using anticoagulants for several weeks. You should also take care to stay as mobile as possible and keep yourself well hydrated.

How to tell if you have a blood clot

Before leaving hospital, you should be told about anything you need to look out for that could suggest you’ve developed a blood clot.

Symptoms of a blood clot can include:

cramping pain, redness, warmth, or swelling in one of your legs – these are symptoms of DVT

breathlessness, chest pain, fainting or coughing up blood – these are symptoms of a pulmonary embolism

If you develop symptoms of a blood clot, see your GP or go to your nearest accident and emergency (A&E) department as soon as possible.

Blood clots can be treated if they’re spotted in time. Read more about treating blood clots.

Leave a comment Posted on December 13, 2017December 13, 2017 A to Z of Medical Conditions

Maple syrup urine disease – the signs, symptoms and complications!

Maple syrup urine disease

[Original article on NHS Choices website]

Maple syrup urine disease (MSUD) is a rare but serious inherited condition.

It means the body can’t process certain amino acids (the “building blocks” of protein), causing a harmful build-up of substances in the blood and urine.

Normally, our bodies break down protein foods such as meat and fish into amino acids. Any amino acids that aren’t needed are usually broken down and removed from the body.

Babies with MSUD are unable to break down the amino acids leucine, isoleucine and valine. Very high levels of these amino acids are harmful.

One of the characteristic symptoms of MSUD is sweet-smelling urine, which gives the condition its name.

Diagnosing MSUD

At around five days old, babies are offered newborn blood spot screening to check if they have MSUD. This involves pricking your baby’s heel to collect drops of blood to test.

If MSUD is diagnosed, treatment can be given straight away to reduce the risk of serious complications. With early diagnosis and the correct treatment, the outcome can be greatly improved. However, treatment for MSUD must be continued for life.

Without treatment, severe and life-threatening symptoms can develop, including seizures (fits) or falling into a coma. Some children with untreated MSUD are also at risk of brain damage and developmental delay.

Around 1 in 185,000 children worldwide are thought to be affected by the condition.

Symptoms

Symptoms of MSUD usually appear within the first few days or weeks after birth. More general symptoms include:

sweet-smelling urine and sweat

poor feeding or loss of appetite

weight loss

Babies with MSUD may also have episodes known as a metabolic crisis, sometimes early in their life. Symptoms of a metabolic crisis include:

lack of energy

vomiting

irritability

breathing difficulties

It’s important to get medical help immediately if your baby develops symptoms of a metabolic crisis. Your doctor will give you advice to help you recognise the signs.

In some cases, a metabolic crisis may be triggered later in childhood by an infection or illness. The hospital will provide you with emergency treatment instructions to follow if your child is ill, which helps prevent these symptoms developing.

Treating MSUD

Diet

Children diagnosed with MSUD are first referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of amino acids your baby receives, especially leucine, valine and isoleucine.

High-protein foods need to be limited, including:

meat

fish

cheese

eggs

pulses

nuts

Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development.

Some children need to take supplements of isoleucine and valine alongside the prescribed diet. This is to help maintain a healthy level of these amino acids in the blood without causing harm. Blood tests are needed to monitor these levels.

Breastfeeding and baby milk also need to be monitored and measured, as advised by your dietitian. Regular baby milk contains the amino acids that need to be restricted, so a special formula is used instead. This contains all the vitamins, minerals and other amino acids your baby needs.

People with MSUD need to follow a low-protein diet for the rest of their life to reduce the risk of a metabolic crisis. As your child gets older they’ll eventually need to learn how to control their diet and will stay in contact with a dietitian for advice and monitoring.

Emergency treatment

If your baby develops an infection, such as a high temperature or cold, their risk of having a metabolic crisis increases. It’s possible to reduce the risk by changing to an emergency diet while they’re ill.

Your dietitian will provide detailed instructions, but the aim is to replace milk and foods containing protein with special high-sugar drinks and amino acid supplements.

If your baby can’t keep down their emergency feeds or has repeated diarrhoea, contact the metabolic team at the hospital to let them know you’re heading straight to the accident and emergency (A&E) department.

You should also be given a leaflet to bring with you in the event of an emergency in case the doctors haven’t seen MSUD before.

Once in hospital, your baby can be monitored and treated with fluids given directly into a vein (intravenous fluids).

You should also take your baby to hospital if they develop the symptoms of a metabolic crisis, such as irritability, loss of energy or breathing difficulties.

Liver transplant

A liver transplant is sometimes an option to treat MSUD. If a person with MSUD receives a donated liver, they’ll no longer be at risk of a metabolic crisis and can have a normal diet.

However, a liver transplant is a major procedure with its own risks. You will have to take medicine to suppress the immune system (immunosuppressant medication) for the rest of your life to stop your body rejecting the new liver.

It’s important to consider all the pros and cons before deciding whether or not to have a liver transplant. Your doctor will be able to discuss whether this is a suitable option.

How MSUD is inherited

The genetic change (mutation) responsible for MSUD is passed on by the parents, who usually don’t have any symptoms of the condition. This is known as autosomal recessive inheritance.

This means a baby needs to receive two copies of the altered genes to develop the condition – one from their mother and one from their father. If the baby only receives one mutated gene, they’ll just be a carrier of MSUD.

If you’re a carrier of the affected genes and you have a baby with a partner who’s also a carrier, your baby has:

a 25% chance of developing the condition

a 50% chance of being a carrier of MSUD

a 25% chance of receiving a pair of normal genes

Although it’s not possible to prevent MSUD, it’s important to let your midwife and doctor know if you have a family history of the condition. Any further children you have can be tested for the condition as soon as possible and given appropriate treatment.

You may also wish to consider genetic counselling for support, information and advice about genetic conditions.

Information about your child

If your child has MSUD, your clinical team will pass information about him or her on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Leave a comment Posted on December 3, 2017December 3, 2017 A to Z of Medical Conditions

15 Natural and Safe Remedies for Heartburn

Acid reflux is an extremely common health problem. The hallmark symptom of acid reflux is heartburn, a burning sensation behind your breastbone that sometimes travels up your throat. Try these tips to help you deal with heartburn or avoid it altogether.

heart burn

A number of strategies can help you get your heartburn under control, without medications. Check out this infographic to discover 15 different natural and safe remedies for heartburn.

<img src="https://media.mercola.com/assets/images/infographic/15-natural-and-safe-remedies-for-heartburn.jpg" alt="heart burn" border="0" style="max-width:100%; min-width:300px; margin: 0 auto 20px auto; display:block;"><p style="max-width:800px; min-width:300px; margin:0 auto; text-align:center;">A number of strategies can help you get your heartburn under control, without medications. Check out this <a href="https://articles.mercola.com/home-remedies-heartburn-acid-reflux-ulcer.aspx">infographic</a> to discover 15 different natural and safe remedies for heartburn.</p>

Leave a comment Posted on December 1, 2017December 1, 2017 A to Z of Medical Conditions

Alopecia – what are the causes and treatments of hair loss

Alopecia

[Original article on NHS Choices website]

Alopecia is the general medical term for hair loss. There are many types of hair loss with different symptoms and causes.

Male- and female-pattern baldness

Male-pattern baldness is the most common type of hair loss, affecting around half of all men by 50 years of age. It usually starts around the late twenties or early thirties and most men have some degree of hair loss by their late thirties.

It generally follows a pattern of a receding hairline, followed by thinning of the hair on the crown and temples, leaving a horseshoe shape around the back and sides of the head. Sometimes it can progress to complete baldness, although this is uncommon.

Male-pattern baldness is hereditary, which means it runs in families. It’s thought to be caused by oversensitive hair follicles, linked to having too much of a certain male hormone.

As well as affecting men, it can sometimes affect women (female-pattern baldness). During female-pattern baldness, hair usually only thins on top of the head.

It’s not clear if female-pattern baldness is hereditary and the causes are less well understood. However, it tends to be more noticeable in women who have been through the menopause (when a woman’s periods stop at around age 52), perhaps because they have fewer female hormones.

Alopecia areata

Alopecia areata causes patches of baldness about the size of a large coin. They usually appear on the scalp but can occur anywhere on the body. It can occur at any age, but mostly affects teenagers and young adults.

In most cases of alopecia areata, hair will grow back in a few months. At first, hair may grow back fine and white, but over time it should thicken and regain its normal colour. Some people go on to develop a more severe form of hair loss, such as:

alopecia totalis (no scalp hair)

alopecia universalis (no hair on the scalp and body)

Alopecia areata is caused by a problem with the immune system (the body’s natural defence against infection and illness). It’s more common among people with other autoimmune conditions, such as an overactive thyroid (hyperthyroidism), diabetes or Down’s syndrome.

It’s also believed some people’s genes make them more susceptible to alopecia areata, as one in five people with the condition have a family history of the condition.

Alopecia areata can occur at any age, although it’s more common in people aged 15-29. It affects one or two people in every 1,000 in the UK.

Scarring alopecia

Scarring alopecia, also known as cicatricial alopecia, is usually caused by complications of another condition. In this type of alopecia, the hair follicle (the small hole in your skin that an individual hair grows out of) is completely destroyed. This means your hair won’t grow back.

Depending on the condition, the skin where the hair has fallen out is likely to be affected in some way.

Conditions which can cause scarring alopecia include:

scleroderma – a condition affecting the body’s connective (supporting) tissues, resulting in hard, puffy and itchy skin

lichen planus – an itchy rash affecting many areas of the body

discoid lupus – a mild form of lupus affecting the skin, causing scaly marks and hair loss

folliculitis decalvans – a rare form of alopecia that most commonly affects men, causing baldness and scarring of the affected areas

frontal fibrosing alopecia – a type of alopecia that affects post-menopausal women where the hair follicles are damaged, and the hair falls out and is unable to grow back

Scarring alopecia occurs in both males and females, but is less common in children than adults. It accounts for about 7% of hair loss cases.

Anagen effluvium

Anagen effluvium is widespread hair loss that can affect your scalp, face and body.

One of the most common causes of this type of hair loss is the cancer treatment chemotherapy. In some cases, other cancer treatments – including immunotherapy and radiotherapy – may also cause hair loss.

The hair loss is usually noticeable within a few weeks of starting treatment. However, not all chemotherapy drugs cause hair loss and sometimes the hair loss is so small it’s hardly noticeable.

It may be possible to reduce hair loss from chemotherapy by wearing a special cap that keeps the scalp cool. However, scalp cooling is not always effective and not widely available.

In most cases, hair loss in anagen effluvium is temporary. Your hair should start to grow back a few months after chemotherapy has stopped.

Telogen effluvium

Telogen effluvium is a common type of alopecia where there is widespread thinning of the hair, rather than specific bald patches. Your hair may feel thinner, but you’re unlikely to lose it all and your other body hair isn’t usually affected.

Telogen effluvium can be caused by your body reacting to:

hormonal changes, such as those that take place when a woman is pregnant

intense emotional stress

intense physical stress, such as childbirth

a short-term illness, such as a severe infection or an operation

a long-term illness, such as cancer or liver disease

changes in your diet, such as crash dieting

some medications, such as anticoagulants (medicines that reduce the ability of your blood to clot) or beta-blockers (used to treat a number of conditions, such as high blood pressure)

In most cases of telogen effluvium, your hair will stop falling out and start to grow back within six months.

How is hair loss treated?

More common types of hair loss, such as male-pattern baldness, don’t need treatment because they’re a natural part of ageing and don’t pose a risk to your health.

However, any type of hair loss can be distressing, so you should see your GP if you’re worried about it.

Your GP should be able to diagnose your type of hair loss by examining your hair. They can also discuss possible treatments with you so it’s advisable to visit your GP before trying a private consultant dermatologist (skin care specialist).

If you want treatment for male-pattern baldness for cosmetic reasons, two medications called finasteride and minoxidil can be used. Minoxidil can also be used to treat female-pattern baldness.

However, these treatments don’t work for everyone and only work for as long as they’re continued. They are not available on the NHS and can be expensive.

Alopecia areata is usually treated with steroid injections, although it’s sometimes possible to use a steroid cream, gel or ointment. A treatment called immunotherapy may also be used. This involves stimulating hair growth by causing an intentional allergic reaction in the affected areas of skin.

If you have significant hair loss of any type, you may decide to wear a wig. Wigs are available on the NHS, but you may have to pay unless you qualify for help with charges.

There are also some surgical options for hair loss, including a hair transplant and artificial hair implants.

Emotional issues

Hair loss can be difficult to come to terms with. The hair on your head can be a defining part of your identity. If you start to lose your hair, it can feel as if you’re losing part of your identity. This can affect your self-confidence and sometimes lead to depression.

Speak to your GP if you’re finding it difficult to deal with your hair loss. They may suggest counselling. You may also benefit from joining a support group or speaking to other people in the same situation – for example, through online forums.

A number of charities, such as Alopecia UK, have support groups and online forums where you can talk to others who are experiencing hair loss.

Leave a comment Posted on November 21, 2017November 21, 2017 A to Z of Medical Conditions, Patient Talk

Angelman syndrome – what are the signs symptoms and causes?

Angelman Syndrome

Original article on NHS Choices website]

Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability.

A person with Angelman syndrome will have a near-normal life expectancy, but needs looking after for the rest of their life.

Characteristics of Angelman syndrome

The typical characteristics of Angelman syndrome aren’t usually apparent at birth.

A child with Angelman syndrome will begin to show signs of delayed development at around 6-12 months, such as being unable to sit unsupported or make babbling noises.

Later, they may not speak at all or may only be able to say a few words. However, most children with Angelman syndrome will be able to communicate using gestures, signs or other systems.

The movement of a child with Angelman syndrome will also be affected. They may have difficulty walking because of problems with balance and co-ordination (ataxia). Their arms may tremble or move jerkily, and their legs may be stiffer than normal.

A number of distinctive behaviours are associated with Angelman syndrome. These include:

frequent laughter and smiling, often with little stimulus

being easily excitable, often flapping the hands

being restless (hyperactive)

having a short attention span

problems sleeping and needing less sleep than other children

a particular fascination with water

By around two years of age, an abnormally small head which is flat at the back (microbrachycephaly) will be noticeable in some children with Angelman syndrome. Children with Angelman syndrome may also start to have seizures (fits) around this age.

Other possible features of the syndrome include:

tendency to stick the tongue out

crossed eyes (strabismus)

pale skin, and light-coloured hair and eyes in some children

a wide mouth with widely spaced teeth

a side-to-side curvature of the spine (scoliosis)

walking with arms in the air

Some young babies with Angelman syndrome may have problems feeding because they’re unable to co-ordinate sucking and swallowing. In such cases, a high-calorie formula may be recommended to help the baby gain weight. Babies with Angelman syndrome may need to be treated for reflux.

Causes of Angelman syndrome

In most cases of Angelman syndrome, the child’s parents don’t have the condition and the genetic difference responsible for the syndrome occurs by chance around the time of conception.

The typical characteristics of Angelman syndrome are caused when the Angelman gene, known as UBE3A, is either absent or malfunctions. A gene is a single unit of genetic material (DNA) which acts as an instruction for the way an individual is made and develops.

A child usually inherits one copy of the UBE3A gene from each parent. Both copies are switched on (active) in most of the body’s tissues. However, in certain areas of the brain, only the gene inherited from the mother is active.

In most cases of Angelman syndrome (about 70%), the child’s maternal copy of the UBE3A gene is missing (deleted), which means there’s no active copy of the UBE3A gene in the child’s brain.

In around 11% of cases, the maternal copy of the UBE3A gene is present but altered (mutated).

In a small number of cases, Angelman syndrome occurs when a child inherits two copies of chromosome 15 from the father, rather than inheriting one from each parent. This is known as uniparental disomy.

It can also occur when the copy of the UBE3A gene that comes from the mother behaves like it came from the father. This is known as an “imprinting defect”.

In about 5-10% of cases, the cause of Angelman syndrome is unknown. Most children in these unexplained cases have different conditions involving other genes or chromosomes.

Diagnosing Angelman syndrome

Angelman syndrome may be suspected if a child’s development is delayed and they have the syndrome’s distinctive characteristics (see above).

A blood sample can be taken to confirm the diagnosis. A number of genetic tests will be carried out on the sample. These may include:

chromosome analysis – to see if any parts of the chromosomes are missing (deletions)

fluorescence in situ hybridisation (FISH) – used to check specifically for chromosome 15 deletions when Angelman syndrome is suspected, or to check the mother’s chromosomes

DNA methylation – which shows whether the genetic material on both the mother’s and father’s chromosomes is active

UBE3A gene mutation analysis – used to see if the genetic code on the maternal copy of the UBE3A gene is altered

For each child with Angelman syndrome, it’s important to know the genetic change that caused the condition. This helps to determine whether there’s a risk of it occurring again in another child, or whether there are implications for other members of the family.

Most children with Angelman syndrome are diagnosed between the ages of 18 months and 6 years, when the typical physical and behavioural symptoms become apparent.

If your child is diagnosed with Angelman syndrome, you should be given the opportunity to discuss the genetic diagnosis and implications with a genetic doctor.

Managing Angelman syndrome

Some of the symptoms of Angelman syndrome can be difficult to manage, and you’re likely to need help from a wide range of different healthcare professionals.

Your child may benefit from some of the following treatments and aids:

anti-epileptic medicine to control the seizures – sodium valproate and clonazepam are some of the most commonly prescribed medicines and ketogenic diets have also been used

physiotherapy may help to improve posture, balance and walking ability; it’s also important to prevent permanent stiffening (contractures) of the joints as people with Angelman syndrome get older

a back brace or spinal surgery may be recommended to prevent the spine from becoming more curved (see treating scoliosis)

an ankle or foot orthosis (lower leg brace) may be recommended to help with walking independently

communication therapy may be needed to help them develop non-verbal language skills, such as sign language and using visual aids; using iPad applications and similar tablet devices may also help

behavioural therapy may be recommended to help overcome problem behaviours, hyperactivity and a short attention span

activities such as swimming, horseriding and music therapy have also been reported as being beneficial

While there’s currently no cure for Angelman syndrome, the results of preliminary genetic research have been promising. Following these studies, scientists believe it may be possible to restore UBE3A function in the brains of people with Angelman syndrome at some stage in the future.

There are also clinical trials looking at treatment for some of the symptoms associated with Angelman syndrome, such as treatments for seizures.

With age, people with Angelman syndrome become less hyperactive and the sleeping problems tend to improve. Most people with the syndrome will have intellectual disability and limited speech throughout their life.

In later childhood, the seizures usually improve, although they may return in adulthood. In adults, some mobility may be lost and joints may stiffen up. People with Angelman syndrome usually have good general health, are often able to improve their communication and acquire new skills throughout their lives.

Help and support

The Angelman Syndrome Support Education and Research Trust (ASSERT) is a UK based charity providing information and support for parents and carers of people with the syndrome.

As well as visiting the website, you can also call the charity’s helpline on 0300 999 0102 to speak with parents of people with Angelman syndrome, who can offer you help and advice.