An unusually cheerful demeanor and ease with strangers and charming facial appearance along with a low nasal bridge are characteristics of Williams Syndrome or Williams-Beuren syndrome. On the other hand, developmental delay, language deficiency, visual and spatial impairments, cardiovascular problems and high blood calcium are also features of Williams Syndrome in the very same person.
To put it in other words, this is a developmental disorder that affects many parts of the body, characterized by mild to moderate intellectual disability, some exceptional personality features such as distinctive facial features, heart and blood vessel problems. Identified by JCP Williams, a New Zealander in 1961, this syndrome is named after him. Williams Syndrome has many names such as Beuren syndrome, Elfin Facies Syndrome with Hypercalcemia, Supravalvar Aortic Stenosis Syndrome and Williams Beuren syndrome. It is usually diagnosed before age 4.
Williams Syndrome is caused when about 26 genes from the chromosome 7 are spontaneously micro-deleted. Occurrence of this disease is 1: 7500 to 1: 20000 births. As several genes are lost in this deletion, researchers opine that the loss can contribute to the characteristic features of this disorder. Some of the genes typically deleted in this syndrome are CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1.
Most do not inherit this syndrome. The deletions of chromosomes are only due to random events that occur in eggs or sperm from their parents. Loss of ELN gene which codes for protein elastin can cause full cheeks, coarse voice, hernias and bladder diverticulitis. Deletion of other genes causes characteristics such as visual-spatial deficiency. Deficiency of other genes such as CLIP2, can contribute to learning disabilities and other cognitive difficulties associated with this syndrome.
Perhaps the most common symptom of this syndrome is heart defects followed by unusual facial features. These include Elfin-like facial features, including upturned nose and prominent lips, an abnormally small head, vertical skin folds that cover the inner corners of the eyes and sunken chest.
Trouble to gain weight as a baby, low muscle tone and a height lower than expected, are other signs. Those with this syndrome tend to have gaps in teeth, a flattened nasal bridge and an unusually longer philtrum (the vertical groove between the base of the nose and the border of the upper lip). Those affected have teeth that are small, crooked or missing.
These are 'cocktail party' type personalities, highly talkative and overly sociable. They develop hyper focus that is deep and intense concentration of the eyes while socially engaged, which could be very embarrassing.
Attention deficit disorder, developmental delays and far sightedness are characteristic of these syndrome personalities. While those with Williams syndrome tend to be more sociable than autistic persons, they have impairment in cognitive function with visuo-spatial impairments.
Recognition of physical symptoms by a pediatrician followed by confirmatory genetic test is the basis of diagnosis for this syndrome. A pediatrician looks at some significant external physical signs characteristic of this syndrome including puffiness around the eyes, long philtrum and stellate pattern (arranged in a radiating pattern like that of a star) in the iris. Some less reliable symptoms of this disorder are anteverted nostrils, a wide mouth and elongated neck.
Physiological symptoms include cardiovascular problems, feeding disturbance in infants. Developmental delay is also an initial sign of this disorder. Pediatrician may also look at ultrasound to check the child's heart for irregularities. Two possible genetic tests to diagnose this order are micro-assay analysis and fluorescent in situ hybridization (FISH) test. These two genetic tests are more or less confirmatory in identifying Williams Syndrome than previous methods which simply relied on cardiovascular problems and facial features.
As such, this syndrome has no cure. Recommendations include avoidance of extra calcium and vitamin D and treating high levels of blood calcium. While narrowing of blood vessels can be a significant health problem, this can be treated on an individual basis. Those with joint stiffness and low muscle tone can be given physical therapy. Developmental and speech therapies are normally given to children to increase their social interactions.
Annual cardiological evaluation is recommended for those with Williams Syndrome. Ophthalmic evaluations and examination for hernia, hearing assessments, blood pressure measurement, developmental and growth evaluation, ortho assessment of joints, muscle tone and assessments of diet and feeding to manage constipation and urinary problems are suggested.
Management of Williams Syndrome
This is a syndrome that cannot be cured but can be managed. Early medical evaluation and treatment can go a long way in managing certain developmental delays and heart problems. It is important for family members to remember that this is a rare condition and that the affected individual cannot be expected to live a normal life due to complications arising out of the disease.
Music is viewed by some as one of the most effective treatment for this syndrome. Music helps in healing the internal and external anxiety of those afflicted.
Unusual narrowing of the blood vessels or other tubular structures or organs is referred to as stenosis. In simple words stenosis means narrowing of the various body parts. The common causes for stenosis include birth defects, inflammation, neoplasm (abnormal proliferation of cells), ischemia (reduction of blood supply thus damaging tissues), infection, iatrogenic (complications arising from any treatment) and atherosclerosis.
Spinal stenosis: Specific causes include rheumatoid arthritis, osteoarthritis, aging, spinal injury or tumor and spondylosis. Symptoms include pain and weakness in the legs along with cramps, imbalance and loss of control over bladder and bowel movements.
Mitral valve stenosis: Specific causes include endocarditis, atrial myoxma, rheumatic fever and Lutembacher syndrome. Symptoms of mitral valve stenosis are fatigue, recurrent respiratory infections and swelling in the feet.
Aortic valve stenosis: This type of Stenosis may be caused by rheumatic fever, Williams syndrome, LDL receptor deficiency and senile or bicuspid aortic valves. The typical symptoms of aortic valve stenosis are chest pain and heart murmur, fatigue and shortness of breath and heart palpitations.
Pulmonary valve stenosis: Specific causes include deformity during fetal development, rheumatic fever and endocarditis. This type of stenosis has symptoms of cough and fatigue, fluid retention and shortness of breath.
Treatment differs according to the type of stenosis. While physical therapy, drugs like analgesics and lumbar brace are used to manage spinal stenosis, aortic valve stenosis and pulmonary valve stenosis are treated with valve replacement surgery.
Celiac disease is an inherited auto-immune disease that is characterized by diffused damage to the small intestinal mucosa leading to malabsorption of nutrients. The development of Celiac disease is attributed to a combination of genetic (HLA alleles) and environmental (gluten ingestion) factors. Celiac disease patients carry the gene identified as HLA DQ2 and/or HLA DQ8. Approximately 30% - 40% of the population in general carry one or both of these genes out of which about 1-5% are expected to develop Celiac disease. The incidence of disease is on the rise, and September 13 is observed as Celiac Awareness Day across the world.
The damage and the discomfort associated with Celiac disease is triggered by consumption of gluten. Gluten is a protein that is present in certain grains such as wheat, rye, barley but absent in rice, oats and corns. In a genetically susceptible host, gluten stimulates autoimmune responses wherein the body's immune system mounts an attack on its own tissues. Due to damage to the villi in the intestines, there is malabsorption of nutrients from food.
Celiac disease is not the same as gluten intolerance. Celiac disease involves autoimmune reaction to gluten and begins to target its own tissue, whereas gluten intolerance is when ingestion of gluten causes the body to have a stress response that does not involve the immune system. The symptoms of both the conditions may appear identical. However, Celiac disease has severe manifestations and may involve hives and rashes.
In case of Celiac disease, blood test shows the higher the levels of class IgA anti-tissue transglutaminase (anti-tTG) and anti-endomysial antibodies. Gluten intolerance is marked by gastrointestinal symptoms and no specific immunological mechanisms or serological markers are identified for this condition.
Celiac disease is partly a genetic condition and hence tends to run in families. Individuals with Celiac patient in their immediate family have a higher chance of developing Celiac disease. People with other autoimmune conditions like Type 1 diabetes, Thyroid disorders, Addison's disease and Autoimmune hepatitis are more likely to develop Celiac disease. People with other genetic conditions like Down's syndrome, Williams syndrome and Turner's syndrome are also at higher risk of developing Celiac disease.
Signs and symptoms of Celiac disease
Symptoms range from mild to severe manifestations and vary from adult patients to children. Celiac disease presents itself with both gastrointestinal and extra-intestinal symptoms. Abdominal pain, Type I diabetes, chronic constipation, recurrent non-bloody diarrhea, anemia, delayed puberty are some of the prominent symptoms noticed in children with Celiac disease. Intussusceptions, mouth ulcers, osteoporosis, brain fog, neurological dysfunction, unexpected weight and hair loss, nausea, bloating, anemia, inability to retain the pregnancy, migraines are the signs and symptoms identified with adult Celiac patients.
Diagnosis of Celiac disease is always a two step procedure - beginning with tTG-IgA and total serum IgA tests and conforming it with intestinal biopsy. The diagnosis is never based only on serology as anti tTG may be high in others diseases like inflammatory bowel disease and chronic liver disease. In addition, serology may be negative in patients with low IgA levels, or in children less than 2-3 years. Along with blood tests, genetic tests may also be ordered to check for the presence of the gene HLA DQ2 or HLA DQ8 in an individual. Almost all Celiac disease patients carry one of these genes. Finally the disease is confirmed by performing intestinal biopsy.
There have been recent guidelines by world renowned medical institutions that immediate family members should be screened for the disease as Celiac disease is genetic and other immediate blood relations in the family have a higher probability of developing Celiac disease than the general population. They should be screened at the time the index patient is diagnosed and thereafter, if they exhibit any symptoms, or at least annually. Early diagnosis can help prevent complications.
Treating Celiac disease
Right now, the only treatment for Celiac disease is to strictly adhere to lifelong gluten-free diet. Fruits, vegetables, dairy, fish and other seafood, beans, legumes can be safely consumed as all of these are gluten-free food groups. Grains such as rice, corn, quinoa, millet, teff, flax, chia and starchy roots like tapioca, potato are all gluten-free.
Avoiding gluten completely is not easy. Any occasional slip leads to a flare-up of symptoms instantly. Considering the fact that there are numerous cases of Celiac disease every year and the increasing numbers, there is serious research being conducted to come up with drug therapy. New drug treatments for Celiac disease are now being tested in clinical trials - some are designed to be taken alongside a gluten-free diet, whereas other set of medicines free the patient from all diet restrictions. Three main approaches have been proposed as new therapeutic modalities that include: gluten detoxification, inhibition of intestinal permeability and modulation of immune response.
Currently there are three drugs that are under clinical trails and seem to be successful in treating the condition.:
ALV003: It contains the enzymes that chop up gluten before it starts to activate the immune system.
AN-PEP: An enzyme that breaks down the residual gluten in the stomach.
Larazotide Acetate: May help inhibit immune reaction by blocking a protein that carries pieces of gluten across the gut.
However these drugs still require medical approval to be commercially available in the market.
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Diseases, Symptoms, Tests and Treatment arranged in alphabetical order:
Bibliography / Reference
Collection of Pages - Last revised Date: February 19, 2020