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Celiac Disease

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.


Risk factors

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

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.


Hansen's Disease

Hansen's disease is an infectious skin disease that is chronic which affects the peripheral nerves, nasal mucosa, skin, eyes and upper respiratory tract. Hansen's disease, also known as Leprosy an infectious disease causes severe skin sores that can be disfiguring and may also cause nerve damage in the arms and legs. The disease is assumed to spread via nasal droplets or through broken skin or through secretions from the infected person's body that may contain the bacteria. Hansen's disease is not contagious and does not spread by merely coming in contact with the infected person.


Hansen's disease has been reported since ancient times and each culture across the world had a different understanding of the condition. Indians, Chinese and the Egyptians felt it was a contagious disease that was incurable. The outlook towards the disease has changed in the recent past. If the condition is diagnosed at an early stage and treated, it is curable. Though not completely eradicated, the disease has become rare and the number of cases of leprosy have reduced. Reported cases are from parts of Africa, Asia and very few cases in America.


Hansen's disease cause

A slow growing bacterium called Mycobacterium Leprae causes the condition. Leprosy is also called Hansen's disease named after the scientist who discovered the bacteria that caused the condition.


Hansen's disease symptoms

The skin and the peripheral nerves (nerves outside the brain and spinal cord) are largely affected by this condition. The nasal mucosa, eyes and upper respiratory tract also get affected. It takes about 3-5 years for symptoms to appear from when the person has come in contact with the bacteria.


  • Disfiguring skin sores that are pale in color
  • Lumps or bumps on skin
  • Thick, stiff and dry skin
  • Numbness in affected part of the skin
  • Eye problems like reduced blinking and dryness
  • Nosebleeds
  • Ulcers on sole of feet
  • Enlarged nerves

Hansen's Disease Types

Depending on the number of skin sores and its type, leprosy can be classified into the following types:

Lepromatus: A severe form of the disease that has extensive skin bumps and rashes. Kidneys, nose and male reproductive organs get affected. Muscle weakness and numbness is also felt. This type is more contagious.

Tuberculoid: This is a mild form of leprosy; people with this type have flat and pale colored patches on the skin. The pale colored patches on the skin may feel numb due to the nerve damage beneath the skin. This type of leprosy is less contagious.

Borderline: People suffering from this type of leprosy have symptoms of both lepromatus and tuberculoid.

Mid-borderline: Asymmetrically distributed reddish plaques can be seen. Swollen lymph nodes may also be seen; they either regress or progress to other forms of leprosy.

Indeterminate: A few hypo-pigmented macules may be seen; they either heal or progress to become other forms of leprosy.


Hansen's disease diagnosis

Diagnosis is based on the clinical symptoms such as localized skin lesions and sensory loss. Skin biopsy is done. A skin smear test may also be done. Without taking proper treatment, this disease can cause severe complications like:


  • Glaucoma or blindness
  • Infertility in men
  • Kidney failure
  • Disfiguration of the face
  • Nerve damage
  • Muscle weakness
  • Damage to nasal mucosa

Hansen's disease treatment

It is a myth that leprosy cannot be treated. For the past two decades, over 16 million people with leprosy have been treated. WHO offers free treatment for people suffering from leprosy. Treatment of leprosy depends upon the type. Treatment includes:


Antibiotics: Antibiotics cannot cure the nerve damage caused from the disease.

Thalidomide, a potent medicine is prescribed to suppress the immune system of the body. This drug helps to treat the skin nodules in leprosy. Anti-inflammatory drugs are provided to combat inflammation and pain.


Hansen's disease Facts


  • Hansen's disease progresses slowly - however progressively to affect the skin and nervous system.
  • Leprosy is not contagious and is not acquired by sitting next to the affected person.
  • Early symptoms of the disease begin in the cooler areas of the body (eyes, earlobes, nose) and later go on to cause loss of sensation.
  • Leprosy can get very damaging if left untreated; it can disfigure the face too.
  • Some people are genetically vulnerable to this disease.
  • There is no commercially available vaccine that can prevent leprosy.
  • 500,000 to 700,000 new leprosy cases are reported every year worldwide. Most of the cases are found in the tropics and the sub-tropics like Indonesia, Brazil, India.
  • The incubation period of the disease may vary from 6 months to 40 years.
  • Apart from humans chimpanzees, mangabey monkeys and nine-banded armadillos may also transmit the infection.
  • More than 95% of the human population has a natural immunity to the disease.
  • When treated at the right time, most cases of Hansen's disease respond to the treatment and become non-infectious within a short span of time.


Parkinson's disease

A disease relating to a progressive degenerative disorder of the central nervous system, Parkinson's disease leads to shaking/tremor and difficulty in movement, walking, coordination etc. As the disease progresses, it could lead to cognitive and behavioral problems. In its advanced stages, this disease could lead to dementia. Parkinson's disease commonly occurs in people aged over 50. James Parkinson, a general practitioner in London was the first to describe the symptoms of the disease and thus the disease has taken the name Parkinson's disease.


The disease progresses gradually, initial symptoms might be just a tremor in the hands. Slowly the disease leads to slowing or freezing of movements. There is no complete cure for the disease. However there are treatments that can handle the symptoms of the disease. Parkinson's disease is also known as Parkinsonism.

Diagnosed as the most common movement disorder, Parkinson's disease is classified into three types based on the age of onset of the disease

Juvenile Parkinson's disease: Sets in before the age of 21. This kind is a rare occurrence.

Young-onset Parkinson's disease: The disease sets in between the age of 21 and 40. Reportedly common in East Asian countries.

Adult-onset Parkinson's disease: The most common and prevalent type of Parkinson's disease, the disease sets in after the age of 60. The symptoms aggravate with advancing age.


Causes for Parkinson's disease

Parkinson's disease sets in usually after the age of 50 and affects both men and women.

  • The major cause of Parkinson's disease is attributed to the death of the dopamine-containing cells in the brain.
  • Toxins present in the environment can also contribute to the death of dopamine cells in the brain thus causing the disease.
  • Family history of the disease.

Symptoms of Parkinson's disease

  • Tremor sets in from the hands and gradually spreads over to the rest of the body.
  • Rigid muscles, stiffness in the muscles, this limits movement and induces pain.
  • Loss of automatic movements like swinging arms, blinking.
  • Slowed motion – The disease restricts the voluntary movement of the body.
  • Change in speech – Few people speak in a monotone; few have soft or rapid speech based on the severity of the condition.
  • Impaired posture and balance – There could be problems in the posture and balance of a person.
  • Dementia – This usually occurs in the advanced stages of the disease.

The physician asks for the medical history of the patient and does a neurological examination of the patient. Hand co-ordination, walking, etc are assessed through neurological examination.

Treating Parkinson's disease


  • Medications to tackle the symptoms
  • Physical therapy to increase muscle tone and strength
  • Lifestyle changes like healthy diet, exercises, speech therapy, etc
  • In a few cases surgery for deep brain stimulation, in this process they implant an electrode into the brain. This electrode in turn takes care of the stimulation of the brain.

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Bibliography / Reference

Collection of Pages - Last revised Date: November 22, 2019