We are in good health until all parts of our body work well and in tandem. One such part is the immune system — a structure that acts like a guard, protecting us against the harmful invaders. The system works on a simple principle — recognition of the “self” from a “non-self”. The non-self is anything that is foreign and capable of harming our body like bacteria and viruses. Immediately after to the entry of a pathogen [disease-causing germ], the system triggers what is called an immune response, in which antibodies [also called the T lymphocytes] are produced against the invader, eventually killing it.

However, at times there is an interruption in the normal process and the system makes a mistake of identifying the self as non-self, thereby creating what are called the auto-antibodies, which are capable of destroying the body’s own cells. This forms the basis of a group of disorders called autoimmune diseases.

The autoimmune process leads to various results — it could be slow damage of a cell, tissue or organ or stimulation of an organ into excessive growth or interference in the functional process. Moreover, the disorders could be either organ-specific or widespread. In organ-specific autoimmune disorders such as Hashimoto’s thyroiditis or Grave’s Disease, the autoimmune activity is directed against a particular organ — thyroid in this case. In non-organ specific autoimmune diseases, the activity affects many organs and systems in the body such as Systemic Lupus Erythematosus [SLE] in which skin, kidneys, joints, blood vessels and even DNA and other nuclear components are affected. Organs or tissues usually affected in this group of ailments are the endocrine glands [such as thyroid, pancreas or the adrenal], blood and its components, digestive tract, skin, connective tissues, muscles and joints.

The cause of autoimmunity

The exact reasons for onset are still not very clearly understood, but genetic predisposition is said to play an important role. First-degree relations such as siblings or children are at higher risk than others; so are women than men.

Further, autoimmune diseases are numerous; they occur worldwide, however, only a few are more common to any given population. For example, the incidence of SLE is higher in Chinese and in the black population, while Diabetes type-1 is widespread in India than in Japan. Thus, autoimmunity could also have an ethnic background.

Autoimmunity could also be acquired. For instance, the incidence of multiple sclerosis is higher in US and Europe than in India or Japan. However, it is seen that Japanese or Indians born and brought up in the US or Europe, tend to acquire the disease more easily than those who go there after adolescence. On the other hand, migrants to Africa are more susceptible than their children born there. Thus, it can be said that environmental factors, lifestyles of the adopted country and dietary habits play a role in autoimmunity. Other causes include bacteria, viruses and certain drugs that could trigger an autoimmune response in people with a predisposition to the disease.

Autoimmune Diseases in India

We all know that Amitabh Bachchan was ill with Myasthenia Gravis and that Vidya Balan played a girl with Multiple Sclerosis in the movie Guru. But not many know that both these come in the category of autoimmune diseases and the prevalence of either is not statistically high in our country unlike a few others that need attention such as diabetes type-1, thyroid-related ailments or rheumatoid arthritis.

Dr Jayant Sohoni Nasik-based, Consultant of Internal Medicine, says, “With state-of-art diagnostic tools, modern medicines and increased awareness, the management of autoimmune diseases has become easier. In most of the cases, diagnosis is based on medical history, symptoms and blood tests to check the antibody presence.”

Current treatment is based on three goals:

1. Relieving symptoms and secondary complications
2. Preserving organ function
3. Reducing the autoimmune activity.

“Apart from this, it is important to boost the morale of the person as living with a disease needs patience, stamina and will power,” adds Dr Sohoni.

People with autoimmune diseases mostly face problems with their self-esteem, caring for themselves, family relationships, sexual relationships, pregnancy, and child bearing. Families, friends and acquaintances can contribute a great deal in making life easy for them. He or she may just need a willing ear to listen, may need company for an excursion or to a distracting movie, or may need something completely different to take his or her mind off things. Try not to be too direct but creative in your ways to render help—a coupon for a therapeutic massage, a refreshing movie or even a walk in the park. Such simple gestures can do more wonders to the patient than you can ever imagine.

Common Autoimmune Diseases: Triggers, prognosis and treatment

Vitiligo

What is it?

Disorder of skin pigmentation; sets in usually at a young age.

Self that is recognised as non-self

Colour giving melanocytes

Trigger for autoimmunity

Genetic predisposition; occupational — mostly due to chemicals

Prognosis for Vitiligo

Patches of skin lose colour, usually on face, hands, armpits and the groin. Affected skin is light-sensitive.

Treatment for Vitiligo

Light make-up to conceal areas. Phototherapy, corticosteroid drugs and grafting or plastic surgery. Sunscreen essential to prevent UV damage.

Diabetes Mellitus Type-1

What is it?

Almost complete or total absence of insulin production by the pancreas.

Self that is recognised as non-self

Insulin-secreting cells of pancreas

Trigger for autoimmunity

Primarily genetic predisposition, but even a viral infection to the pancreas could be a trigger.

Prognosis for Diabetes Mellitus Type-1

Sets in usually in the juvenile years. Frequent urination, thirst, weakness and fatigue, since cells are starved of glucose. Weight loss as cells try obtaining energy from fat cells. Could also cause urinary infections, boils, delayed wound healing, blurred vision and tingling in hands and feet.

Treatment for Diabetes Mellitus Type-1

Regular check-ups with the doctor, espeically to prevent secondary complications. Regular injections of insulin. A monitored diet, especially carbohydrate intake is must. Monitoring of ketones in blood and urine, since excess leads to ketone shock that could cause coma and death.

Hashimoto’s Thyroiditis

What is it?

The thyroid gland is unable to produce enough hormones.

Self that is recognised as non-self

Thyroid gland cells

Trigger for autoimmunity

Genetic predisposition, environmental or due to an infection.

Prognosis for Hashimoto’s Thyroiditis

Tiredness, muscular weakness, weight gain, constipation, dry hair, sensitivity to cold and goitre [enlarged thyroid gland]

Treatment for Hashimoto’s Thyroiditis

Thyroid hormone replacement for a lifetime. In case of goitre, drug treatment or surgery may be essential.

Grave’s Disease

What is it?

An overactive thyroid leading to excess hormone production.

Self that is recognised as non-self

Thyroid gland cells — here the antibodies stimulate rather than destroy the cells

Trigger for autoimmunity

Genetic predisposition, environmental or due to an infection.

Prognosis for Grave’s Disease

Insomnia, irritability, weight loss, heat sensitivity, muscular weakness, brittle hair, shaky hands and bulging eyes.

Treatment for Grave’s Disease

A lifetime of anti-thyroid drugs, to reduce the levels of hormones

Rheumatoid Arthritis

What is it?

An inflammatory condition wherein joints of fingers, wrist, ankles, toes and others swell up, get stiff and at times deformed.

Self that is recognised as non-self

The synovial membrane that surrounds and maintains the joint space.

Trigger for autoimmunity

Usually sets in due to inflection.

Prognosis for Rheumatoid Arthritis

Inflammation in the tissue lining joints. Muscle pain, painful and deformed joints, weakness, fatigue, weight loss. Early mornings are the worst times due to stiffness.

Treatment for Rheumatoid Arthritis

Non-inflammatory and/or immunosuppressive drugs [in severe cases] are given. Physiotherapy and occupational therapy help. Few feel diet rich in with omega-3 fatty acids helps.

Pernicious Anaemia

What is it?

Failure to absorb Vitamin B12 which is needed for production of normal red blood cells and nerve cell metabolism.

Self that is recognised as non-self

Intrinsic factor produced by the stomach lining – Vitamin B12 combines with this before getting absorbed.

Trigger for autoimmunity

Familial condition, more common in women and in the middle ages, also associated with disorders like diabetes mellitus.

Prognosis for Pernicious Anaemia

Could show no symptoms. In few, headache, tiredness, sore mouth and tongue, weight loss and jaundice. At times loss of balance or tingling in feet.

Treatment for Pernicious Anaemia

Folic acid tablets or injections of Vitamin B12 are needed, at times permanently.

Multiple Sclerosis

What is it?

Chronic disabling. Damage to the fatty myelin sheath of the nerve fibre that helps smooth transmission of impluses from brain and spinal cord to rest of the body

Self that is recognised as non-self

Myelin sheath of the nerve fibres

Trigger for autoimmunity

Genetic disposition, ethnic, acquired, environmental, viruses of herpes and measles at times

Prognosis for Multiple Sclerosis

Vary amongst people, could last for weeks at times; tingling, nubmness fatigue due to muscular weakness, rigidity leading to paralysis, vertigo, unsteady gait, slurred speech, difficulty in swallowing in incontinence when bladder is affected.

Treatment for Multiple Sclerosis

No available cure as yet. Drugs given to alleviate the secondary complications. Corticosteroids may help in an acute attack. Few claim changes in diet and inclusion of evening primrose oil and sunflower in diet helps. Physiotherapy for muscular weakness

Myasthenia Gravis

What is it?

Muscles become weak and tire easily

Self that is recognised as non-self

The acetylcholine receptors of the muscles, responsible for picking up nerve impulses.

Trigger for autoimmunity

Genetic predisposition, infection, injury, sex [women are affected more than men]

Prognosis for Myasthenia Gravis

Either a sudden or gradual onset. Affects people differently. Muscles of the eyes [drooping eyelids], face, throat [difficulty in swallowing], larynx [hoarseness, weak voice, difficult speech], arms and legs and respiratory tract may be affected.

Treatment for Myasthenia Gravis

Drugs to facilitate nerve impulse transmission to the muscles. Corticosteroid drugs to suppress autoimmune process. Physiotherapy also helps strengthen the weak muscles.

Systemic Lupus Erythematosus [SLE]

What is it?

A multi-organ disorder affecting skin, kidneys, lungs, heart and even the brain in later stages, however, primarily the lesions are in the connective tissues.

Self that is recognised as non-self

Mainly the connective issue

Trigger for autoimmunity

Mainly genetic predisposition and hormonal factors, but triggers could be viruses, sunlight or few types of drugs.

Prognosis for Systemic Lupus Erythematosus [SLE]

Joints feel painful and swollen, fatigue, loss of appetite, nausea and hence weight loss. Skin is sensitive to the sun. Commonly seen is a “butterfly rash” on the cheek and nose and red, circular rashes on other parts of skin.

Treatment for Systemic Lupus Erythematosus [SLE]

Still no cure. Drugs given to alleviate swelling and symptoms. Use of sunscreen with higher SPF is the must. Immuno-suppressive drugs are given in severe cases.

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Multiple sclerosis [MS] is an autoimmune disease in which the body’s immune system attacks the central nervous system. While there is no known medical cure for MS, there are several treatments that can relieve symptoms and slow down the progression of this disease.

Causes and prevalence

Since the discovery of MS in the 19^th century, medical science has come a long way in terms of understanding why the disease occurs, its diagnosis and most importantly, its treatment.

The nerve cells in our brain send messages to the rest of our body. Each of these nerve cells has a protective cover called the myelin sheath. In MS, the body’s immune system attacks this protective covering. This disrupts the communication between the brain and the rest of the body resulting in a wide range of physical, mental, and even psychiatric symptoms.

Until a few decades ago, Indians were thought to be protected from this disorder as compared to their western counterparts. However, as the number and reach of neurologists have increased and with the aid of widespread MRI availability, more and more people with this disorder are now being diagnosed. This has raised the prevalence, especially in the cities, to around 3 – 5 cases per/lakh population. Surprisingly, this is still lower than the prevalence in some areas of northern Europe where almost 100/lakh suffer from this disease.

What is the reason for this selective affliction? This has been a topic of much scientific debate and the focus of several studies. It is now known that the disease is more common in countries farther from the equator. Certain other genetic factors that are beyond the realm of routine clinical testing may also be contributory. Also, MS is known to be more common in women, perhaps because they are more susceptible to autoimmune conditions in general.

Symptoms and diagnosis

The onset of this disease is usually gradual, cryptic and can mimic a host of other ailments, sometimes delaying the diagnosis for years together. Nonspecific symptoms like tiredness, tingling numbness, blurring of vision, giddiness can be challenging to interpret, but more specific symptoms such as the sudden inability to see with one eye, sudden imbalance to one side, paralysis of one side of body, sudden weakness in both legs or urinary bladder symptoms, especially in the age group between 15 – 25 years alerts the neurologist to suspect multiple sclerosis.

Just as with other neurological problems, there is no single ‘test’ to confirm multiple sclerosis; however, with the help of a combination of patient history, clinical exam, MRI imaging and spinal fluid testing, a diagnosis of MS can be reasonably made. Of these tests, MRI is especially important and indispensable to diagnose and quantify MS. Sometimes other eye tests like a VEP [visual evoked potential] study are also required.

After the diagnosis

A diagnosis of MS can be a bolt from the blue for the patient as usually the individual is in the prime of his life and the disease can have immense social, psychological and financial implications. MS doesn’t just affect the individual; it also affects their entire family. A patient usually goes through various stages of denial, anger, depression; but with family support, counselling by the doctor and self resolve, acceptance is possible.

Treatment options and costs

The basic treatment of MS is to prevent relapses or attacks, which if not prevented, can lead to permanent disability over a period of 15 to 20 years and can make the individual wheelchair bound with the need for assistance for day-to-day activities.

The treatment for MS is three pronged: disease modifying treatment, acute attack treatment and supportive treatment. Among these, the most important are medicines known as disease modifying therapies, which are small insulin-like injections taken on a weekly or daily basis for at least a year or two. These injections are patented medicines and the average cost per month is  INR 30,000 – 40,000. The neurologist helps the patient to decide which medicine to choose depending on the side effects, which are usually manageable with simple oral medicines.

In the last decade or so, stronger and apparently more effective disease modifying therapies have been invented, which are reserved for second-line treatment as they are more expensive [approximately INR 80,000 per month] and have potentially more side effects.

Smoking, lack of exercise, vitamin D deficiency and exposure to hot environments is known to increase the risk of a relapse. As the disease affects all the spheres of one’s life—profession, family, even sexual health—depression is common. It is for these unrecognised outcomes of the disease that doctors usually enlist the help of family, friends and self-help groups in maintaining a positive outlook towards the disease.

With the help of the right treatment, regular aerobic exercises, a positive outlook and supportive treatment, the battle against MS can be won and a person with the ailment can lead as normal a life as anybody.

This was first published in the February 2015 issue of Complete Wellbeing.

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