Medical condition of the week – Raynaud’s phenomenon

The medical condition of the week this week, Raynaud’s, is timed very well, as not only is this week the “r” week, but this Saturday marks the start of February, Raynaud’s awareness month. Raynaud’s is also something close to my heart as I have several friends whom suffer with the condition, one of whom asked me to blog about it in my medical condition of the week.

Anyway, Raynaud’s phenomenon is a common condition in which the small blood vessels in the extremities are over sensitive to changes in temperature. The condition affects between 3-20% of the adult population worldwide, and is thought to affect as many as 10 million people with the condition in the UK. Although, the onset of Raynaud’s is more common when people are in there 20s or 30s, it can also affect children and adolescents.

During a Raynaud’s “attack” the main symptoms are changes to the skin colour which normally happen in three stages. 1 – the affects body part turns white because blood supply is restricted, 2 – the skin then turns blue due to lack of oxygen, during this stage the affected area can also feel cold and numb, 3 – the body part turns red as the blood returns to the area at a higher than normal rate, it is during this phase that sufferers sometimes feel tingling or throbbing sensation in the affected area.

The “attack” can last from several minutes to several hours, with the most commonly affected areas of the body being the fingers and the toes. However, other extremities can be affected including the ears and the nose. These episodes or symptoms are often triggers by expose to the cold or touching cold objects. However, they can also be triggered by emotions such as anxiety, and smoking.

Raynaud’s itself is split into two sub categories dependant on the cause of the condition Primary Raynaud’s and Secondary Raynaud’s.

Primary Raynaud’s is the most common form of Raynaud’s and is when the condition occurs by itself without being associated with another health condition. Scientists believe that primary Raynaud’s is caused by disruptions in the control of the blood vessels by the nervous system, (i.e. vasodilation and vasoconstriction) however the exact cause of these disruptions is still unknown. There is some evidence however that Primary Raynaud’s may have a genetic link, as cases have been known to run in families.

Secondary Raynaud’s is when an underlying reason causes the blood vessels to become oversensitive to temperature. Autoimmune conditions are associated with the majority of cases of secondary Raynaud’s, the most common being scleroderma, rheumatoid arthritis, Sjogren’s syndrome and lupus. Hepatitis B and C can also occasionally trigger Raynaud’s in some people. Some cancers can also cause secondary Raynaud’s. These are usually cancers which effect the blood, bone marrow or immune system including; acute lymphoblastic leukaemia; lymphoma and multiple myeloma.

In some cases, secondary Raynaud’s can also develop as a result of side effects of certain medications including; beta-blockers; some times of anti-migraine medication; chemotherapy medications; decongestants; the contraceptive pill; and hormone replacement therapy. Some cases have also been linked to taking illegal drugs such as cocaine and amphetamines.

The main treatment for Raynaud’s is often self-help techniques. These have the aim to help control symptoms and include things such as; keeping the whole body warm, especially the extremities and particularly in cold weather; stopping smoke – to improve circulation; regular exercise to help improve circulation and reduce stress levels; minimising stress levels through relaxation techniques, eating a healthy diet and avoiding stimulants such as coffee, tea and cola.

In some cases however medication is required to reduce symptoms. The only medicine licensed to treat Raynaud’s in the UK is Nifedipine, a calcium channel blocker which encourages the blood vessels to widen. This can be taken daily or alternatively just on a preventative basis for example during cold weather, and although it does not cure the condition it can help to relieve symptoms. However, as with all medication there can be side effects which include; oedema – swelling in the body due to a fluid build-up; headaches; dizziness and flushing. It is also recommended that people taking Nifedipine should avoid drinking grapefruit juice as it can make side effects worse.

If symptoms are very severe, rarely surgery is recommended. However, this is only in extreme cases when there is a risk of losing blood supply to the fingers. The surgery recommended is a sympathectomy which cuts the nerves which cause the blood vessels to spasm. However, the effects of such surgery are usually only temporary and more surgery/further treatment is required after a few years.

Overall, although Raynaud’s is a common condition many suffering with it have no idea that they actually have it. Although, Raynaud’s can be painful and get in the way of life, with self-help techniques and occasionally medication, the condition can often be well controlled.

Sources:
http://www.nhs.uk/Conditions/Raynauds-phenomenon/Pages/Introduction.aspx
http://www.raynauds.org.uk/
http://www.bupa.co.uk/individuals/health-information/directory/r/raynauds-phenomenon
http://www.patient.co.uk/health/raynauds-phenomenon

Medical condition of the week – Q fever

The medical condition of the week this week is Q fever, an infection caused by the bacteria Coxiella burnetii (C. burnetii) carried by animals, most commonly sheep, goats and cattle. Although Q fever is unusual in the UK, with just around 50 cases in the UK each year, it is still common throughout the world. The name given to Q fever is interesting in itself. The infection was first identified in Australia in 1935 and as no one knew who caused it, it was given the name “query” fever shortened to Q fever, the tern still used today.

Q fever is transmitted by direct contact with the bacteria which causes it, Coxiella burnetii, through contact with livestock, thus making those who work closely with livestock such as farmers, stable hands, vets and meat packers more at risk from the infection. However, the C. burnetii can also affect domesticated pets such as dogs, cats and guinea pigs. Although an animal infected with C. burnetii may not display any symptoms, the bacteria can be present in the milk, urine, faeces, afterbirth and birth fluids of the animal. C. burnetii also has a spore-like lifecycle and so can survive for up to 6 months without a host organism, making it possible for small particles to remain in contaminated soil, dust, hay, straw etc., which are easily breathed in, and also for particles to remain in unpasteurised milk and other products which are then ingested. It is however, rare for Q fever to spread through human to human transmission, and scientists believe the only way for this to occur is through sexual intercourse for from a pregnant woman passing on the infection to her unborn child.

The infection itself is usually short-term and normally lasts for about 2 weeks. The symptoms of Q fever include; high temperatures/fever of 38⁰C or more; severe headaches and muscle/joint pain; sore throat; photophobia – sensitivity to light; sweats and weight loss. In some cases Q fever can lead to pneumonia, inflammation of the lungs and/or hepatitis, inflammation of the liver, however both of these cases are usually mild with no obvious symptoms or complications.

Occasionally, Q fever can develop into long-term (chronic) Q fever, where symptoms are experienced for 6 months of longer. It is not clear why some people go on to develop this, however most cases of chronic Q fever have been in people with pre-existing health conditions which compromise their immune system such as CHD, kidney disease and cancer which affect the blood such as lymphoma and leukaemia. Very rarely, chronic Q fever can lead to endocarditis, inflammation of the inner lining of the heart. However this is more likely to occur if the heart valves are already damaged.

The main risk with Q fever is the development of the infection while pregnant, as although the mother may experience no symptoms, the baby may. This can result is the baby being premature or have a low birth weight. In rare cases is can sadly cause a miscarriage or stillbirth. However, with the advice from a doctor the right treatment can be given to help prevent this.

Most people recover from Q fever without any medical treatment. However, if symptoms are severe you can be prescribed antibiotics such as doxycycline or co-trimoxazole, to help combat the infection.
The main thing with Q fever is the prevention of the infection. This can be achieved by ensure all animal birth products are disposed of appropriately, not allowing direct contact with anything which may be contaminated with animal blood, faeces or urine and not drinking unpasteurised milk and dairy products. It is also recommended that women should avoid coming into contact with sheep and lambs during the lambing season, January to April.

Although Q fever is uncommon in the UK the actual prevalence may be higher as the symptoms are very similar to normal flu. There is currently a vaccination which has been produced in Australia, however it has not yet been licensed for use in the UK. However according to the NHS the Health and Safety Executive (HSE) and the Joint Committee on Vaccination and Immunisation (JCVI) are working together to determine whether a routine vaccination should be made available to people in high-risk occupations.

Sources:
http://www.nhs.uk/Conditions/Q-Fever/Pages/Introduction.aspx
http://www.webmd.boots.com/a-to-z-guides/q-fever
http://www.cdc.gov/qfever/

Combating blindness with gene therapy

Surgeons in Oxford have used a new technique of gene therapy to help improve the vision of six patients who would have gone blind without the treatment.

The condition which the gene therapy was used to treat choroidermeia, a condition which causes the light-detecting cells at the back of the eye to determinate and dye gradually, leading to impaired site and finally complete blindness. The condition effects approximately 1,000 people in the UK and has causes the deterioration of vision in one in four people over the age of 75. The gene therapy itself begins by lifting the retina by injecting fluid into the back of the eye. DNA is then injected into the retina, inserting “working” copies of the faulty genes to prevent the rest of the light-detecting cells from dying.

Jonathan Wyatt, 63, was the first patient to undergo the gene therapy and found that, not only did the operation stabilise his vision, but it also significantly improves it, allowing him to now read three lines further down on an optician’s sight chart. Before the operation Mr Wyatt still had a little bit of vision, however since the operation his wife explained that “he is more independent, he can find things he couldn’t before, he can go to the shops on his own and he’s less of a nuisance!”.

There was also success for the other patients in the trial. Wayne Thompson, said that he noticed an immediate effect after the operation saying “my colour vision improves. Trees and flowers seemed much more vivid and I was able to see start for the first time since I was 17 when my vision began to deteriorate”. After being told that he would not see his daughter, aged 9, grow up, he is now hoping to see his grandchildren grow up.

Professor Robert MacLaren, the surgeon who led the research was “absolutely delighted” by the outcome, saying “we really couldn’t ask for a better result”. He believes that the success of the process demonstrates the principle that gene therapy could be used to cure other forms of genetic blindness such as age-related macular degeneration and glaucoma. As summed up by Clara Aglen of the Royal National Institute of Blind People “As this process advances there is hope that is could be transferred across and provide a cure for these common causes of blindness”.

Source:
BBC news – http://www.bbc.co.uk/news/health-25718064

Medical condition of the week – Psoriasis

The medical condition of the week this week is something close to my heart as it is a condition my Nan has dealt with for many years. Psoriasis is an immune condition which causes the skin replacement process in the body to speed up. This causes the skin cells to build up in raised patches known as “plaques” on the skin, which often look red and flaky, and are often itchy.

Psoriasis effect between 2% and 3% of the population in the UK and affects both genders equally.
Psoriasis is often caused by a certain effect or “trigger” which causes the immune system to produce new skin cells more quickly. Common triggers include an injury to the skin such as sunburn or an insect bite (known as the Koebner response); drinking large amounts of alcohol or smoking; being under a lot of stress; hormonal changes such as those during puberty and the menopause; infections; other immune disorders; or certain medications including antimalarial medicines, anti-inflammatory medicines and beta blockers. It is in fact a reaction to penicillin when she was a child which my Nan believes triggered the start of her Psoriasis. It is also thought, like with many immune conditions that there is a genetic link with Psoriasis, however the exact role which genetics plays in the development in the condition is still unclear.

There are many different types of psoriasis, most of which are classified by the area of skin which is effected by psoriasis and the severity. The most common type of psoriasis is chronic plaque psoriasis, which is thought to account for about 90% of people with in condition. With chronic plaque psoriasis the plaques are normally pink or red with overlaying flaky silvery-white scales, and there is normally a sharp boarder between the edge of the plaque and the “normal” skin. The severity of the rash is very different for each person can also vary dependant on the time of year and if events have triggered a “flare-up” of the condition. The most common areas affected by the rash are the skin of the elbows, knees, and lowers back. There are two variations of chronic plaque psoriasis; scalp psoriasis and flexural psoriasis. Scalp psoriasis, as the name suggests, affects the scalp, and often may be visible on the forehead and behind the ears. Some people with scalp psoriasis feel very little discomfort, although in some severe cases is can cause hair loss, although this is usually only temporary. Flexural psoriasis, occurring in the creases of the skin known as flexures, this includes the armpit, groin, under the breasts and in skin folds. The plaques with flexural psoriasis, although are red and inflamed, will often be smooth to the tough and not have the rough scaling as which other types of psoriasis.

Pustular psoriasis is a much rarer form of the psoriasis and causes pus-filled blisters, known as pustules, to appear on the skin. The “pus” consitis of white blood cells and is not a sign of infection, and is not in any way contagious. Generalised pustslar psoriasis, or von Zumbusch psoriasis, often causes the development of the pustules in cycles, in which they will develop quickly and over a large area of the skin. There can often be associated symptoms with these cycles such as fever, chills, weight loss and fatigue. Palmoplantar pustular psoriasis affects the palm of the hands and the soles of the feet. Due to its nature this type of psoriasis can often be quite painful and the skin is usually very red and can crack. However like with the generalised type it often occur in cycles every few days or weeks.

About 50% of people with psoriasis will also have fingernail psoriasis. With this type of psoriasis small indentations appear in the nails and they can often become loose of the nail bed, a condition known as onycholysis and may change colour around the nail bed to a yellow/brown colour, giving the impression of oil droplets.

Guttate psoriasis often develops following a sore throat caused by a bacterium and causes lots of small round plaques which often develop across the torso, back, arms and legs. This type of psoriasis is most common in children, teenagers and young adults and although it often develop very quickly, guttate psoriasis often lasts a few weeks to a few months and foes away on its own. Up to half of people will never have another attack, however, some will go on to develop other forms of psoriasis.

Erythrodermic psoriasis is a rare form of psoriasis and affects nearly all of the skin causing widespread redness and intensive itching and burning of the skin. Although it is rare, erthrodermic psoriasis can cause the body to loose proteins and fluid and so requires urgent admission to hospital in order to stabilise the fluid and protein loss to prevent dehydration.

Psoriasis can be treated in a number of ways including topical treatments, creams and ointments, which are applied to the skin and are often used on mild psoriasis. These include; topical corticosteroids – these reduce inflammation and slow down the production of skin cells and reduce the symptoms of itching; vitamin D analogues – these work in the same way as topical corticosteroids and are often used alongside or instead of them; calcineurin inhibitors – these reduce the activity of the immune system and help to reduce inflation, they are often used to treat psoriasis in sensitive areas such as the scalp; coal tar- the exact way in which it work is unknown however in reduces scales, inflation and itchiness, and is often used which other topical treatments have been ineffective.

Other treatment include the use of phototherapy, the use of natural and artificial light to treat psoriasis. This includes; UVB phototherapy, which uses light to slow down the production of skin cells; and Psortalen plus ultraviolet A (PUVA), a combination of a psoralen tablet or cream and the ultraviolet A light which penetrates more deeply than ultraviolet B. Phototherapy, is often used is topical treatment is not successful, and often requires regular session of treatment. Systemic treatments are medication which are used as a last resort for psoriasis as they have potentially serious side effects. However they include; ciclosproin – an immunosuppressant; acitretin – reduces the production of skin cells; and etanercept, adalimumab, infliximab and ustekinumab injections.

Overall, although like any chronic disease sufferer will have both good and bad days. Research into the causes of psoriasis is constantly going on, and so are developments within treatment. Although complications of the condition such as psoriatic arthritis (a form of arthritis caused by psoriasis) can occur, with good management of the condition and treatment plans most sufferers are still able to lead normal, healthy lives.

Sources:
http://www.nhs.uk/Conditions/Psoriasis/Pages/Introduction.aspx
http://www.patient.co.uk/health/psoriasis
https://www.psoriasis-association.org.uk/pages/view/about-psoriasis

Medical condition of the week – Osteoporosis imperfecta

After a break over Christmas and New Year (I wanted to spend time with my family), the medical condition of the week is back! This week the medical condition is osteoporosis imperfecta (OI) also known as “brittle bone disease”. Although, osteoporosis is fairly common, effecting approximately 2 million women in the UK, osteoporosis imperfecta is a rare genetic condition which is estimated to effect 1 in 15,000 people in the UK.

The symptoms and signs of OI are caused by a difference in collagen, the glue which holds the body together. In people with OI the collagen is said to be “poor-quality”, or there may not be a sufficient amount to support the mineral structure of the bone. (For more on collagen abnormalities see the post on JHS). As a result the bones are weak and fragile making them more susceptible to fractures, particularly when there is little or no trauma. There are seven different variations of OI, all different in severity and effect the body in different ways.

Type I accounts for approximately 60% of cases of OI and is the mildest form of the disease. Along with the osteoporotic bone, sufferers can also have weak and slender tendons, thing heart valves and dilated aortic root. Hypermobility is common with Type I OI and as a result of this twinned with the weakened bones there is a 7x greater risk of fractures than the general population. OI Type I can also affect the teeth in a condition called Dentinogenesis Imperfecta, where the teeth are brittle and may crumble. The eyes and ears can also be effected causing hearing loos in young adults and a thin sclera, the coating of the eye ball, which can also sometimes seem blue tinged. However, most adults with OI Type I will generally appear in good health, although problems can arise due to fractures sustained many years in the past.

Type II is the most severe form of OI, and sadly babies with this condition tend not to survive beyond the first few months. Type II is often diagnosed prenatally at the 20 week ultrasound, as multiple fractures frequently occur while the baby is in the womb. Usually the bones have not fully formed and as a result the limbs and short and often the limbs and skull is deformed. Problems with the ribcage can lead to the lungs not being fully formed leading to other respiratory complications such as Infant respiratory distress syndrome.

Type III is progressive, and bones such as the skull, long bones, spine, chest and pelvis may deform during early years. It is also common for adults with Type III to have a very short stature, sometimes due to multiple fractures during childhood. Some people with Type III may also have kyphoscoliosis, a severe curvature of the spine, along with the other bone deformities means many people with Type III rely on a wheelchair for at least some of the time. As with other types of OI, the sclera is blue when a child is born with Type III, however it becomes the normal colour in childhood. People with Type III also very often have characteristic facial features with a triangle shaped face with very prominent eyes and a small jaw.

Type IV sits between I and III in severity, and often is not diagnosed until the sufferer is older as the symptoms can easily be missed or misdiagnosed. Like with other types of OI a curvature of the spine is relatively common, along with ligament problems which can lead to joint problems. The main difference between Type IV and Type I is that the sclera is a normal colour in childhood, however a small stature is still prominent – often with bowing of the leg bones. Within Type IV there may also be complications with painful swelling of blood vessels over the long bones.

The remaining three types are much rarer, although they all do have a classification of their own. Type V causes moderate deformities and fragility of the long bones and the vertebrae in the spine. The sclera is a normal colour, although there is a degree of ligament laxity, leading to hypermobility in the joints. In Type VI, a moderate to severe form, the brittle bones is caused by a mineralisation defect, often caused by a disturbance of mineral metabolism. Type VII is a moderately to severe recessive form of OI. With Type VIII the sclera often has a blue tinge, and there are also deformities of the lower extremities. The actual genetic defect for Type VIII has be localised to chromosome 3p22-24.1.

Although OI has many different types, all can have a profound impact on a sufferer’s life. Most people with OI will require surgery at some point in their life to account for fractures, or to implant rods into bones to strengthen them. Treatment can also include a group of drugs named Bisphosphonates. These drugs work to find a balance between the amount of old bone cells removed and new bone cells being formed, a balance which is not always quite rights in people with OI.

However, most of the treatment for OI is about managing the impact/symptoms on the condition. This includes pain medication; physiotherapy – improving strength and fitness to reduce recovery time after fractures; and occupational therapy – helping with things such as sitting posture to reduce pressure on weak bones and reduce pain.

Overall, OI, although rare, can significantly affect someone life. However, hopefully with more research in genetics, the genes responsible for the condition will be identified soon.

Souces:
http://www.brittlebone.org/about-o.i.html
http://www.patient.co.uk/doctor/osteogenesis-imperfecta
http://www.nos.org.uk/page.aspx?pid=266&srcid=247