It may be that your Murch family is hearty and healthy and suffer nothing more than the usual illnesses of childhood and old age without much in between. We would all wish to for that. However, some of the Murch’s carry a gene called HLA-B27.
This gene can cause a condition called Ankylosing Spondylitis (AS). Having the gene doesn’t mean you will definitely get AS, though it may cause the condition to pass to an offspring who will later develop the illness. My family have all been diagnosed with AS, although not all suffer any symptoms. I am not an expert on the illness so the information I have set out below is only a guide and you should seek some medical assistance if you think this may affect you or your family.
Symptoms of AS can be very similar to more common back problems, which means AS can be misdiagnosed at first especially if the symptoms occur in the teenage years. In my experience it is often written off as growing pains – especially if the sufferer is tall: a strange irony considering Murch means ‘a short man’.
Diagnosis is made using information from different sources, including blood tests, which may show inflammation, a common indicator, along with x-rays or an MRI scan.
People with AS test positive for HLA-B27, but not all who test positive have or display signs of the condition. About 8% of white western-Europeans carry the gene, but only about 1 in 15 of those people will develop AS. Whether this is reflected in the population of the US, Australia and Canada following Murch migration is unknown.
As the condition progresses new bone develops between the vertebrae, however, it may be several years before these signs appear. This can be debilitating and painful and has to be managed carefully. Some treatments have unpleasant long term side effects. The advice of a specialist rheumatologist is required for the best advice and combination of treatments.
In the early stages, AS is likely to cause, in greater or lesser degree, stiffness and pain in the lower back in the early morning which eases through the day or with exercise and/or pain in the joints where the base of your spine meets your pelvis or in the buttocks or the backs of your thighs. The condition is often mistaken for common backache, however, stiffness that lasts at least 30 minutes in the morning helps to distinguish Ankylosing Spondylitis from simple back pain. The symptoms may also occur after rest, or may wake you in the night.
Some people also have pain, stiffness and swelling in their knees, ankles, or the smaller joints of their hands and feet. For some people, especially children and teenagers, the first signs may be in their hip or knee rather than their back.
Other possible symptoms include:
Tenderness at the heel, making it uncomfortable to stand on a hard floor – Inflammation can occur at the back of your heel where the Achilles tendon meets the heel bone, or in the tendon in the arch of the foot.
Pain and swelling in a finger or toe – When the whole digit is swollen.
Tenderness at the base of your pelvis This makes sitting uncomfortable.
Chest pain or a ‘strapped-in’ feeling - If your spine is affected at chest level it can affect movement at the joints between the ribs and the breastbone, which makes it difficult for you to take a deep breath. Coughing or sneezing may cause discomfort or pain.
Inflammation of the eye - The first signs of this are usually a red, watery and painful eye and finding it uncomfortable to look at bright lights. If this happens, or if you develop blurred vision, it's important to get medical help within 24–48 hours. Treatment (with steroid eye drops) is usually very effective..
Inflammation of the bowel - People with AS can develop bowel problems known as inflammatory bowel disease or colitis. Symptoms of IBD can vary, but it can usually be treated successfully. Sometimes treatments like non-steroidal anti-inflammatory drugs can make bowel problems worse, so you might be advised to stop taking them.
Tiredness - This may be caused by the activity of the condition, anaemia or sometimes depression and frustration associated with the condition.
If these symptoms sound familiar then it may be that you should ask for the blood test and at the very least you can feel assured if you don’t carry the gene.
It was thought that ankylosing spondylitis affects more men than women, but this could be because women have been undiagnosed in the past. We do know that it often starts in your late teens or 20s – the average age is 24. One of my brothers was diagnosed in his late teens but another only in his late 50’s after years of back problems. Moving and exercising are thought to be one of the best ways of trying to prevent further progression of the condtion.
Even in families where somebody's been diagnosed with AS there may be brothers or sisters who have the HLA-B27 gene but who don't have the condition. The genes you inherit from your parents may make you more likely to develop AS, but the condition isn’t passed on directly. AS isn’t contagious so you can’t catch it from someone else.
People with AS, especially those who've had the condition for a long time and whose vertebrae have fused, are at increased risk of spinal fractures following a trauma. Spinal fractures can cause nerve damage, so it helps to know if you are an AS sufferer. Some people with AS develop thinning of the bones so it's important that you are aware of your status in order to receive the right treatment. Some treatments are not suitable for AS sufferers.
Find more information on the condition at: http://www.arthritisresearchuk.org/arthritis-information/conditions/ankylosing-spondylitis.