Tuesday, 2 June 2015

B- Behcet's Disease

Prevalence:

Cause: The exact cause is unknown, however most of the symptoms are a result of inflammation of blood vessels (vasculitis). Researchers are looking for things that may trigger Behcet's disease, such as viral, environmental and genetic factors. Behcet's causes an autoimmune reaction, where the body's immune system attacks the body's own tissues rather than protecting from pathogens.

Symptoms: The most common symptoms:

  • Mouth Sores- Often the first symptoms people notice before being diagnosed. They are red and can make eating painful and usually lasts between 10-14 days, and usually reoccur. These affect almost all people that suffer from Behcet's disease. 
  • Genital Sores- Occur in more than half of sufferers, usually on the scrotum in males and the vulva in females. They appear similar to mouth sores and after several outbreaks can cause scarring. 
  • Skin Problems- Often look red, or resemble pus filled bumps or bruises. They are red and raised, and typically appear on the upper torso or legs. 
  • Uveitis- Swelling to the back of the eye and the iris. Occurs in more than half of the patients suffereing from Behcet's and is more common in men. Often this does not occur until around two years into the disease. 
  • Arthritis- Causes pain, swelling and stiffness in the joints, especially; knees, ankles, wrists and elbows. Arthritis as a result of Behcet's disease usually lasts a few weeks and does not cause any permanent damage. 
Less common symptoms:
  • Blood Clots- About 16% of patients have blood clots as a result of thrombophlebitis, most commonly in the legs, causing pain and tenderness. Sometimes people may also experience arterial problems such as aneurysms. 
  • Central Nervous System- Inflammation of the brain and the thin layer covering the brain and spinal cord can occur, a condition known as meningoencephalitis. Symptoms of this can also include fever, headache, stiff neck and difficulty coordinating movement. 
  • Digestive Tract- Rarely Behcet's disease can cause patients to suffer from ulceration and inflammation in the digestive tract which leads to abdominal pain, bleeding and diarrhea. 


Diagnosis: Diagnosing Behcet's is extremely difficult as there is no specific test that can confirm the disease. Doctors rule out other diseases that can cause similar symptoms such as Crohn's disease or reactive arthritis, and then once ruled out, doctors will look for symptoms that are common to Behcet's and are reoccuring regularly.

Age Of Onset: Behcet's disease tends to occur in people's 20's or 30's, however any age can develop the disease.

Treatment: There is no cure, however with correct medication, rest, exercise and a healthy lifestyle can help control the symptoms. Many different doctors are often involved within the care plan as the disease affects so many different areas of the body. Examples are a rheumatologist for care of joints, a gastroenterologist for digestive tract problems and a neurologist for monitoring of central nervous system functioning. Medication can be used for internal inflammation and gels, creams etc. are often used for exterior sores.

Tuesday, 26 May 2015

Aarskog-Scott Syndrome

Prevalance: Estimated to be 1 in 25,000

Cause: It is an inherited disorder that is linked to the X chromosome. More common in males, however females can also suffer from a milder form. Caused by mutations of the gene faciogenital dysplasia (FGD1)

Symptoms: Include:

  • Delayed sexual maturity
  • Delayed teeth
  • Height of below average
  • Mental health problems such as ADHD (attention deficit hyperactivity disorder)
  • Middle of face undeveloped- distinct facial features: widely spaced eyes, small nose and a long length between the nose and mouth
  • Short fingers and toes with mild webbing
  • Hernia in the groin (Inguinal hernia)
  • Testicles that have not descended
  • Decreased cognitive development

Diagnosis: Usually a doctor will examine the child for features of Aarskog-Scott
Syndrome and ask about family history, and if the condition is believed to be present they may order for genetic testing of the FGD1 gene or X-rays

Age of onset: Childhood. Most the time, the disease is not recognised until the child is around three years old, as the stunted growth would not always be particularly obvious in the first few years of life

Treatment: There is not treatment for the disease itself however orthodontic treatment can help with facial abnormalities, surgery to remove the hernia, and testicular surgery to allow them to descend.