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Syndromes and Diseases

What is the difference between a Disease and a Syndrome?

Diseases and Syndromes can be defined differently.

A disease can be defined as a medical condition of the body which disrupts the normal functioning and physiological processes. Each disease has its own signs and symptoms attributed to it. It is generally accepted that there are four kinds of disease – pathogenic, hereditary, physiological and deficiency.

A syndrome is a term used to describe a collection of symptoms which are on-going. Quite often it is thought that a syndrome is attributable to some diseases. The word syndrome comes from the Greek sundrome which means concurrence of symptoms. Causes of syndromes can be genetic or from unknown causes and generally do not often have a clear cause and effect type connection.

Here are some examples of common diseases and syndromes.

Addison’s disease
Named after a British physician called Dr Thomas Addison, Addison’s disease is a condition caused by the disordered functioning of the Adrenal glands which affects the production of two hormones - cortisol and aldosterone. Symptoms of Addison’s disease include bronzing of the skin, hypotension (low blood pressure), anaemia and fatigue. Addison’s disease most frequently results from an autoimmune disease where the immune system mistakenly begins to attack the Adrenal gland. The disease may also be caused by number of factors including trauma to the adrenal glands, haemorrhage, tumours and tuberculosis.

Alzheimer’s disease (AD)
Named after the German neuropathologist Alois Alzheimer in 1906, Alzheimer’s disease is the most common cause of dementia. It is a progressive disease which destroys brain cells and the nerves supplying the brain. This in turn causes the brain to shrink and affects a patient’s memory and other functions such as their speech and ability to think and make decisions. There are three recognised types of Alzheimer’s disease- Early onset Alzheimer which develops in patients below 65 years old, late onset Alzheimer which is the most common form developing in adults over 65 years and especially in those aged over 85, and Familial Alzheimer’s disease which is inherited and typically occurs in patients in their 40s. At present there is no cure for Alzheimer’s disease although there are medications which can slow the progression of the disease and treat associated problems such as agitation. Patients may also benefit from non-pharmaceutical treatments such as cognitive behavioural therapy.

Barrett’s oesophagus
Named after Dr Norman Rupert Barrett who first described the disease, it is a condition which affects the cells lining the lower oesophagus. The disease is caused by long term gastro-oesophageal reflux disease (GORD) Symptoms include heartburn, indigestion, dysphagia (swallowing problems), ulcers and strictures (narrowing) of the oesophagus. The disease can increase a patient’s risk of developing oesophageal cancer. Treatment of Barrett’s oesophagus involves addressing lifestyle factors such as by reducing smoking and alcohol intakes and losing weight/ maintaining a healthy weight.

Bell’s palsy
Named after a Scottish physician called Charles Bell who first described the disease in 1830. The disease is characterised by a sudden weakness (paralysis) of one side of the face. Paralysis may be partial, causing mild muscle weakness, or complete, allowing no facial movement. The disease effects are most frequently temporary, below 2-3 weeks in duration and usually medical treatments are not required, while more persistent forms may be treated with steroids. The cause of Bell’s palsy is not completely understood but it is thought to result from a viral infection.

Coeliac disease (celiac disease)
The name coeliac disease is derived from the Greek word kulaks (abdominal). Coeliac disease is a specific type of food intolerance to gluten, a protein found in wheat and rye. Similar proteins are found in barley and possibly oats, may also cause the same reaction. In celiac disease Gluten damages the mucosal lining of small intestine, flattening the villi and reducing ability to absorb nutrients. Symptoms of Coeliac disease can include malabsorption and steatorrhoea (the presence of excess fat in faeces). Other symptoms include lethargy, failure to thrive in children / poor growth and development, abdominal pain and discomfort, anaemia / vitamin deficiencies. Treatment involves the lifelong exclusion of gluten containing foods from the diet by ensuring that any bread, pasta, pastry, cakes and biscuits eaten are all gluten free and checking for less obvious sources of gluten in manufactured and processed foods.

Coronary heart disease (CHD)
Is a condition which occurs due to the build-up of fatty substances (atheroma) causing a blockage in the coronary arteries supplying blood to the heart; symptoms of CHD include chest pain (angina), heart attacks (myocardial infarction) and heart failure.

Crohn’s disease
Also known as Crohn syndrome and regional enteritis, Crohn’s disease is named after an American physician named Berril Bernard Crohn who first described the disease in 1932. Crohn’s disease is an inflammatory bowel disease which can affect any part of the gastrointestinal tract (the mouth to the anus) Symptoms of Crohn’s disease include abdominal cramping, diarrhoea vomiting and weight loss. Treatment of Crohn’s disease can involve dietary changes and medications to help reduce symptoms and promote and maintain a remission of the disease. Surgery may also be required to treat associated problems such as obstructions/abscesses and fistulas.

Cushing’s Syndrome
Named after an American neurosurgeon called Harvey Cushing who discovered the condition; Cushing’s syndrome is caused by an excess of corticosteroids in the blood. The syndrome can cause obesity, facial fullness (moon shaped), hypertension; slow growth rates in childhood, bone pain/tenderness, acne, other symptoms include depression and fatigue. Cushing’s disease may be caused by taking too many steroidal medications or by the adrenal glands producing excessive amounts of cortisol. Treatment of Cushing’s disease will depend on what has caused it to develop.

Cystic fibrosis
Is an inherited disease which affects the lungs and pancreas and other organs. The disease effects the secretion of mucus from the walls of these organs affecting the way they function. For example thick mucus secretions build up in the lungs leading to respiratory infections and lung damage. The disease is an inherited condition caused by mutations in the gene encoding for the cystic fibrosis trans-membrane conductance regulator (CFTR) protein.

Dermatitis herpetiformis 
Dermatitis herpetiformis (DH) is a skin disease connected to celiac disease which is characterised by the development of an itchy skin rash and blisters on different parts of the body especially around the elbows, forearms, knees and buttocks. Management of dermatitis herpetiformis involves the avoidance of gluten a protein in wheat, barley and oats.

Down’s syndrome
Named after a British physician called John Langdon Down. Down’s syndrome is a genetic condition which causes various degrees of learning difficulty along with characteristic physical features including eyes that slant outwards and upwards and reduced stature. Down’s syndrome is also associated with other health conditions such as heart disorders, bowel abnormalities, hearing and visual problems and thyroid problems.

Grave’s disease
Named after doctor Robert J Graves in around 1830. Grave’s disease is an autoimmune condition which attacks the thyroid gland causing it to overproduce the thyroid hormone known as thyroxine; Grave’s disease is the most common cause of hyperthyroidism. The majority of the symptoms of Grave’s disease may be attributed to hyperthyroidism e.g. Grave’s disease also causes inflammation of the eye causing them to bulge (Grave’s ophthalmopathy).

Hodgkin disease (also known as Hodgkin Lymphoma)
Named after a British pathologist known as Thomas Hodgkin who first described the disease; Hodgkin disease is one of two types of lymphoma (cancers which start in white blood cells - lymphocytes) the other type of lymphoma being non Hodgkin disease (lymphoma).The main difference between these lymphomas is the type of lymphocyte involved, Hodgkin disease involves the presence of an abnormal cell known as a Reed-Sternberg cell, this cell is not detected in non-Hodgkin disease. Diagnosed early, Hodgkin Lymphoma has good survival rates. Treatment involves chemotherapy perhaps alongside radiotherapy some patient’s also require a stem cell transplant. The most common early sign of Hodgkin lymphoma is the presence of swollen lymph nodes; other symptoms include fevers, weight loss, anaemia and loss of appetite. The disease is most commonly diagnosed in teenagers and young adults although it can occur at any age.

Huntington’s disease
Named after George Huntington the physician who first described it; Huntington’s disease is an inherited brain disorder. Symptoms of Huntington’s disease include psychiatric disorders, cognitive changes and a characteristic movement disorder which involves involuntary movements. Huntington’s disease is a progressive illness although its speed of progression varies between individuals. Treatment of Huntington’s disease involves treating associated symptoms and slowing the progression of the disease.

Irritable Bowel Syndrome (IBS)
Causes abdominal pain, bloating and alternating constipation followed by diarrhoea. Although the cause is unknown factors such as emotional stress, infection and some foods seem to aggravate the condition. Treatments include lowering stress and dietary adjustments.

Inflammatory Bowel Syndrome (IBD)
Inflammatory bowel disease (IBD) is the name given to a group of diseases causing chronic inflammation of the large and small intestine, for which no cause is known. Crohn's disease and ulcerative colitis are the best-known of these diseases.

Lyme disease
Lyme disease is named after the village of Lyme in Connecticut. It is an infectious disease spread by ticks which are infected with bacteria belonging to the genus Borrelia, the disease starts with a tick bite and initially causes flu like symptoms, tiredness, headaches, muscle and joint pain. Patient’s with untreated Lyme disease may then go onto develop more severe muscle pain, joint pain and swelling as well as neurological conditions such as facial paralysis. Once diagnosed Lyme disease is treated with antibiotics. Unfortunately there is no vaccine to prevent Lyme disease, the best way to prevent Lyme disease is to avoid being bitten by ticks e.g. by using an insect repellent and covering up exposed areas of skin when walking through areas where ticks are particularly prevalent such as wooded areas and heathland.

Meniere’s disease
Named after a French physician named Prosper Meniere, Meniere’s disease is a rare disorder of the inner ear which causes symptoms such as loss of hearing, tinnitus and vertigo.

Parkinson’s disease
Named after the British doctor James Parkinson who first described the disease naming it as ‘shaking palsy’; Parkinson’s disease is a progressive neurological condition which causes three main symptoms- 1) Tremors (involuntary movements) of different parts of the body often most notable in the hands, 2) Muscle stiffness and 3) a slowness of movement (bradykinesia). Symptoms of Parkinson’s vary from one patient to another as does the speed at which Parkinson’s progresses, although in most instances it is a slow developing disease. Scientific research has shown that the symptoms of Parkinson’s result from lows levels of the hormone dopamine in the brain. However medical research has not been able to demonstrate why in the nerve cells producing dopamine are damaged in a Parkinson’s patient. Some scientists believe that Parkinson’s may result from gene mutations, while others look towards an environmental cause such as the use of pesticides and pollutants. Although there is no currently available cure for Parkinson’s a range of medications and other treatments have been developed to help manage symptoms and improve quality of life.

Pelvic inflammatory disease
An infectious inflammatory disorder (PID) is a bacterial infection affecting a woman’s womb, fallopian tubes and ovaries. PID is most commonly caused by a sexually transmitted infection such as chlamydia. Some women do not experience any symptoms of PID but others experience symptoms such as pain around the pelvis or lower abdomen, bleeding between menstrual periods, discomfort during sex, vaginal discharge fever and vomiting. Treatment of PID involves a course of antibiotics; untreated PID can cause fertility problems.

Peripheral Artery Disease (PAD)
Also known as peripheral vascular disease (PVD) is a condition caused by the build-up of fatty deposits in the arteries in the limbs of the body (usually the legs) which restricts blood supply to muscles. The main symptom of peripheral artery disease is pain (or dull ache) in the legs when walking which is generally felt in the thighs, hips or calves. PAD is more common in older adults and more common in men. Risk factors for PAD include smoking, high cholesterol levels in the blood and high blood pressure. PAD is treated through a combination of lifestyle changes such as stopping smoking and medications to treat blood pressure and cholesterol,

Tarsal tunnel syndrome
Painful foot condition result of the posterior tibial nerve being compressed within the tarsal tunnel; also called posterior tibial neuralgia. It results from arthritis, swelling from a sprained ankle causing compression of the nerve, flat feet, varicose veins, ganglion cysts, swollen tendons and bone spurs. Treatment is by anti-inflammatory medication and surgery as a last resort.

Tourette’s syndrome
Named after the French doctor Gilles de la Tourette who first described the condition in the 19th century; Tourette’s syndrome is a neurological disorder characterised by the occurrence of involuntary movements or noises (tics). These tics tend to come and go over time and vary in time, frequency, severity and location. Tourette’s syndrome is most often seen in childhood and frequently symptoms have resolved by late adolescence/early adulthood, although in some instances symptoms are more persistent. The exact cause of Tourette’s is currently unknown. Some patient’s will not require any treatment for Tourette’s while others benefit from medications and psychological treatments.

Raynaud’s disease (Raynaud’s phenomenon)
Named after the French doctor Maurice Raynaud who first described the condition in 1862. Raynaud’s disease is a condition characterised by the appearance of white/ pale skin in an affected area. This may be accompanied by pain numbness and ‘pins and needles’ and may last from a few minutes to several hours. Raynaud’s disease is caused by the constriction of small vessels supplying blood to certain parts of the body, especially the fingers and toes, but also to the nose and ears. The best treatment for Raynaud’s is to avoid conditions which cause an attack such as abrupt changes in temperature and excess stress/anxiety. Sufferers should ensure they wear gloves/mittens when going out in cold weather and when taking food out of the freezer. Patients should also stop smoking as this can further reduce blood flow. There are two types of Raynaud’s disease- Primary Raynaud’s which develops by itself and Secondary Raynaud’s which develops in association with other medical conditions such as rheumatoid arthritis and scleroderma.

Wilson’s disease
Also known as hepatic lenticular degeneration, Wilson’s disease is named after a British neurologist called Samuel Alexandra Kinnear Wilson who first described the condition. It is an inherited disorder which causes the accumulation of too much copper in the body by preventing the body from being able to process excess copper from the diet. Excess copper can cause hepatitis (inflammation of the liver) and scarring of the liver (cirrhosis) as well as brain damage. Treatment of Wilson’s disease aims to reduce the amount of copper entering the body by following a diet that cuts out foods rich in copper such as shellfish, nuts and chocolate and taking medications which aim to reduce the amount of copper digested and entering the blood stream.

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