THYROID DISORDERS -EVERYTHING YOU SHOULD KNOW - by Dr Sunil kumar Dear friends and Curofians here's an brief information about thyroid disorders. Thyroid gland is a butterfly shaped gland in the front of the neck. It encircles the windpipe or the trachea. It is about 4 cms in height and weighs about 18 gms. This gland is responsible for the secretion of thyroid hormones. Hormones are chemicals produced by special glands like thyroid, adrenals, ovaries etc. They act as messengers and are carried by the blood to the various target organs. Thyroid disorders are conditions that affect the thyroid glands. It plays an important role in regulating numerous metabolic processes throughout the body. The Thyroid gland is located below the adam’s apple wrapped around the trachea. Thyroid disease is a common problem that can cause symptoms because of over- or under-function of the thyroid gland. The thyroid gland is an essential organ for producing thyroid hormones, which maintain our body metabolism. The thyroid gland is located in the front of the neck below the Adam's apple. Thyroid disease can also sometimes lead to enlargement of the thyroid gland in the neck, which can cause symptoms that are directly related to the increase in the size of the organ (such as difficulty swallowing and discomfort in front of the neck). Thyroxine T4 is the primary hormone developed by the Thyroid gland. A small portion of the T4 released from the gland is converted to Triiodothyronine (T3) which is the most active hormone. Hyperthyroidism: Too much thyroid hormone results in a condition known as hyperthyroidism. Affects about 1 percent of women. It's less common in men. Grave’s disease is the most common cause of hyperthyroidism. Symptoms: RestlessnessNervousnessIrritabilityracing heartIncreased sweatingShakingRestlessnessTrouble sleepingThin skinBrittle hairNailsWeight lossMuscle weakness Causes: Toxic adenomas: Nodules develop in the thyroid glands and begin to secrete thyroid hormones upsetting the body's chemical balance.Subacute thyroiditis: Inflammation of the thyroid that causes the gland to leak excess hormones, resulting in temporary hyperthyroidism that lasts a few weeks but may persist for months.Pituitary gland: Malfunctions or cancerous growths in the thyroid gland. Although rare, hyperthyroidism can also develop from these causes. Treatments for hyperthyroidism: destroy the thyroid gland or block it from producing its hormones. Antithyroid drugs: such as methimazole (Tapazole) prevent the thyroid from producing its hormones.Radioactive iodine: a large dose of it damages the thyroid gland. A pill is given by mouth. As thyroid gland takes in iodine, it also pulls in the radioactive iodine, which damages the gland.Surgery: Surgery can be performed to remove your thyroid gland. Hypothyroidism: Inadequate production of hormones by the thyroid gland is termed as hypothyroidism. This is also called Underactive thyroid state. Hypothyroidism can make the body’s development to slow down and reduces metabolism rates. Since the body needs some amount of thyroid for energy production and drop in hormone production leads to lower energy levels. Symptoms: FatigueDry skinIncreased sensitivity to coldMemory problemsConstipationDepressionWeight gainSlow heart rateComa What are the causes of Hypothyroidism? Hypothyroidism can be caused by a number of factors: Hashimoto's thyroiditis: This is the commonest cause. This is an autoimmune disorder (normally body’s defence system fight against external infections. In autoimmune disorder the defence system attacks the healthy cells of the body by mistake). In Hashimoto’s thyroiditis the immune system/defence system produces antibodies that attack the thyroid gland and destroy it.Iodine deficiency in diet: For the production of thyroid hormones iodine is very important. The body does not produce iodine normally, so it needs to be supplemented from outside. Iodine is mainly present in the food we eat. It is mainly present in shellfish, salt-water fish, eggs, dairy products. If a person does not eat iodine rich foods, he may end up with iodine deficiency leading to hypothyroidism. Currently, this causative factor is on the decline due to government initiative of table salt with iodine.Surgery: Surgery to remove thyroid gland (for e.g. thyroid cancer treatment, overactive thyroid etc.)Radiation to the neck (to treat cancer in the neck area): The thyroid gland cells are damaged due to the radiation.Treatment with radioactive iodine: This treatment is used for managing hyperthyroidism/overactive thyroid, where the thyroid gland produces excessive thyroid hormones. One of the treatment modalities is by radioactive iodine. Sometimes this radiotherapy destroys normal functioning cells which lead to hypothyroidism.Certain medicines: Certain medicines used to treat heart conditions, cancer, psychiatric conditions etc. – for e.g. amiodarone, lithium, interleukin-2, interferon-alpha.Pregnancy: Pregnancy (the reason is unclear but it has been noticed that the thyroid may get inflamed after delivery – this is called Postpartum thyroiditis.Damage to the pituitary gland: Pituitary gland is a gland which is present in the brain. It produces a hormone called TSH (Thyroxine-Stimulating hormone).The TSH tells the thyroid gland how much thyroid hormone it should make. If the levels of thyroid hormone in the blood are low, then the TSH will stimulate the thyroid gland to produce more Thyroid hormone.Hypothalamus disorders: This is an organ in the brain. This produces a hormone called TRH (Thyrotropin Releasing Hormone) which acts on the Pituitary gland to secrete TSH. So any disorder of Pituitary gland will indirectly effect the production and secretion of Thyroid hormones. These are very rare disorders.Congenital thyroid defects: Some babies are born with thyroid problems. This is due to the thyroid not being developed normally during pregnancy. Sometimes the thyroid gland does not function normal. This can be identified by screening for thyroid disorders in the first week after delivery. This is usually by a blood test using a small drop of blood from the baby’s heel. Who are at risk of developing Hypothyroidism? Women have a higher risk of suffering from hypothyroidism than men.Older people are at increased risk.People suffering from other autoimmune diseases like Coeliac disease, Type-1 Diabetes Mellitus, Vitiligo, Pernicious anemia, Multiple sclerosis, Rheumatoid arthritis, Addison’s disease etc.People with psychiatric conditions such as bipolar disorderPeople with Chromosomal abnormalities like Down syndrome, Turners syndrome also have a high risk of suffering from hypothyroidism. How to diagnose hypothyroidism? Blood tests: TSH: This hormone is made in the pituitary gland and it stimulates the thyroid gland to produce thyroxine. If the thyroxine levels are low in the blood, the pituitary gland produces and secretes more TSH into the blood to act on the thyroid gland to produce more thyroxine. A raised TSH level indicates hypothyroidism. Other tests are not usually necessary unless a rare cause of hypothyroidism.T4: A low level of thyroxine indicates hypothyroidism.T3: these levels are generally not needed to diagnose hypothyroidismAnti-Thyroid peroxidase antibodies (anti-TPO antibodies) or Anti- thyroglobulin antibodies are present in 90-95% of patient with autoimmune thyroiditis.Other blood tests include Creatinine Kinase, Serum Lipids, Complete blood picture etc.Ultrasound of the neck is done if the patient presents with a thyroid swelling. What is the treatment of hypothyroidism? Overt hypothyroidism is treated by synthetic Thyroxin hormone which should be taken every day on an empty stomach at least 30 – 45 minutes before breakfast. The treatment is continued for the rest of the patient’s life. Regular thyroid function tests are done once every 8 weeks-12 weeks to adjust the dose of the thyroxine in the initial period of diagnosis. Once the thyroxine dose is stabilised, the tests can be done even once a year. This treatment is quite effective. Sub-clinical hypothyroidism is only treated if the patient is a woman and is contemplating pregnancy, in patients with symptoms or if the TSH is quite high. What are the side-effects of thyroxine medication? There are few side effects if any. Most people tolerate these medications quite well. An important consideration before starting medication is to check if the patient has chest pain/angina. These people are started on the least available dose. If these patients are started on a higher dose they notice a worsening of their angina pains. Side effects mainly occur if the thyroxine dose is high which leads to hyperthyroidism. The symptoms of this could be palpitations 9increased heart beat), weight loss, profuse sweating, anxiety, irritability etc. There are some tablets which increase with thyroxine tablets. These include carbamazepine, iron supplements, calcium supplements, rifampicin, phenytoin, warfarin etc. What are the complications of hypothyroidism? If untreated hypothyroidism can lead to: heart problems like heart attack due to increased levels of bad cholesterol like LDL, or heart failure due to fluid retentionobesityinfertilityjoint painsdepressionA pregnant woman with hypothyroidism is at increased risk of giving birth to a baby with congenital hypothyroidism, also known as cretinism. Further, the woman may have pregnancy related complications like pre-eclampsia, premature delivery, low birth weight baby, anemia, post-partum haemorrhage (bleeding after delivery) etc.Myxoedema is another complication where the patient has extremely low levels of thyroid hormone. The body temperature drops drastically making the person lose consciousness or go into a coma. If you wish to discuss about any specific problem, you can consult an Endocrinologist. Regards Dr Sunil kumar

35 years old female suffering from recurrent painless nonitchy swelling for last 5 years. No h/o respiratory distress. No family history of such lesions. She is a known Hypertensive and for that she is on Telmisertan 40 mg/day. Patient has been treated with Levocetirizine 10mg twice a day for six months and Monteleukast 10 mg at night for six months, but no relief. Only responding to short courses of systematic Steroid 2 mg /kg with tapering dose. 1). Diagnosis 2). D/D 3). Investigations 4). Management. Please give your answers in chronological order.

A 45-year-old woman with a previously diagnosed pruritic skin condition presents with significant joint deformity that has developed slowly over the past 10 years. She complains of severe pain in her hands, elbows, knees, ankles, and feet. Examination of skin is positive for erythematous silvery plaques on the dorsal hands, wrists, knees, trunk, and dorsal feet. She is otherwise healthy and takes no medication. Do u think this is psoriatic arthritis?

Friends today I am discussing about a problem known as Alopecia Areata. What is alopecia areata? Alopecia areata is a disease that causes hair to fall out in small patches, which can remain unnoticeable. These patches may eventually connect and then become noticeable, however. This disease develops when the immune system attacks the hair follicles, resulting in hair loss. Sudden hair loss may occur on the scalp, and in some cases the eyebrows, eyelashes, and face, as well as other parts of the body. It can also develop slowly, and recur after years between instances. The condition can result in total hair loss, called alopecia universalis, and it can prevent hair from growing back. When hair does grow back, it’s possible for the hair to fall out again. The extent of hair loss and regrowth varies from person to person. There’s currently no cure for alopecia areata. However, there are treatments that may help hair grow back more quickly and that can prevent future hair loss, as well as unique ways to cover up the hair loss. Resources are also available to help people cope with the stress of the disease. What are the symptoms of alopecia areata? The main symptom of alopecia areata is hair loss. Hair usually falls out in small patches on the scalp. These patches are often several centimeters or less. Hair loss might also occur on other parts of the face, like the eyebrows, eyelashes, and beard, as well as other parts of the body. Some people lose hair in a few places. Others lose it in a lot of spots. You may first notice clumps of hair on your pillow or in the shower. If the spots are on the back of your head, someone may bring it to your attention. However, other types of diseases can also cause hair to fall out in a similar pattern. Hair loss alone isn’t used to diagnose alopecia areata. In rare cases, some people may experience more extensive hair loss. This is usually an indication of another type of alopecia, such as: alopecia totalis, which is the loss of all hair on the scalp alopecia universalis, which is the loss of all hair on the entire body Doctors might avoid using the terms “totalis” and “universalis” because some people may experience something between the two. It’s possible to lose all hair on the arms, legs and scalp, but not the chest, for example. The hair loss associated with alopecia areata is unpredictable and, as far as doctors and researchers can tell, appears to be spontaneous. The hair may grow back at any time and then may fall out again. The extent of hair loss and regrowth varies greatly from person to person. What causes alopecia areata? Alopecia areata is an autoimmune disease. An autoimmune disease develops when the immune system mistakes healthy cells for foreign substances. Normally, the immune system defends your body against foreign invaders, such as viruses and bacteria. If you have alopecia areata, however, your immune system mistakenly attacks your hair follicles. Hair follicles are the structures from which hairs grow. The follicles become smaller and stop producing hair, leading to hair loss. Researchers don’t know what triggers the immune system to attack hair follicles, so the exact cause of this condition isn’t known. However, it most often occurs in people who have a family history of other autoimmune diseases, such as type 1 diabetes or rheumatoid arthritis. This is why some scientists suspect that genetics may contribute to the development of alopecia areata. They also believe that certain factors in the environment are needed to trigger alopecia areata in people who are genetically predisposed to the disease. Alopecia alongside other skin conditions People with an autoimmune disease, like alopecia areata, are also more prone to having another autoimmune disease, including those that also affect the skin and hair. If you’ve been diagnosed with alopecia areata and another skin condition, you may find that treating one helps the other. In other cases, however, treating one may make the other worse. Psoriasis Psoriasis causes a rapid buildup of skin cells. It happens when the immune system mistakenly attacks the skin cells and causes the skin cell production process to go into overdrive. This results in thick patches of skin called plaques, as well as red, inflamed areas of skin. Treating psoriasis with alopecia can be tricky. The scaling associated with psoriasis can make the skin itchy, and scratching can make hair loss worse. In addition, biologic treatments often used for psoriasis, called TNF inhibiters, have been associated with hair loss in some people. For others, treating the psoriasis may help regrow hair. In one small study, over two-thirds of participants with alopecia areata who took a common psoriasis treatment called methotrexate had hair regrowth greater than 50 percent. Another case study found that a new psoriasis treatment called apremilast (Otezla) helped one woman with both psoriasis and alopecia regrow the hair on her scalp in 12 weeks. Atopic dermatitis (eczema) Researchers have established a link between alopecia and atopic dermatitis, a condition in which inflammation on the skin causes itchy, red rashes. Atopic dermatitis is more commonly known as eczema. Many treatment options for atopic dermatitis, like steroid creams and phototherapy, overlap with alopecia treatments, so it’s possible that treating one condition will help treat the other. One area of interest for treating both atopic dermatitis and alopecia is a class of drugs called JAK inhibitors. They’re currently used to treat rheumatoid arthritis and other conditions. One oral JAK inhibitor known as tofacinitib has already shown promise in small clinical trials for both atopic dermatitis and alopecia areata. Another biologic treatment called dupilumab (Dupixent), which has recently been approved by the FDA to treat atopic dermatitis, is also a drug of interest for treating alopecia. A clinical study evaluating dupliumab in people with alopecia — both with and without atopic dermatitis — is currently underway. How is alopecia areata diagnosed? A doctor will review your symptoms to determine if you have alopecia areata. They may be able to diagnose alopecia areata simply by looking at the extent of your hair loss and by examining a few hair samples under a microscope. Your doctor may also perform a scalp biopsy to rule out other conditions that cause hair loss, including fungal infections like tinea capitis. During a scalp biopsy, your doctor will remove a small piece of skin on your scalp for analysis. Blood tests might be done if other autoimmune conditions are suspected. The specific blood test performed depends on the particular disorder the doctor suspects. However, a doctor will likely test for the presence of one or more abnormal antibodies. If these antibodies are found in your blood, it usually means that you have an autoimmune disorder. Other blood tests that can help rule out other conditions include the following: C-reactive protein and erythrocyte sedimentation rate iron levels antinuclear antibody test thyroid hormones free and total testosterone follicle stimulating and luteinizing hormone How is alopecia areata treated? There’s no known cure for alopecia areata, but there are treatments that you can try that might be able to slow down future hair loss or help hair grow back more quickly. The condition is difficult to predict, which means it may require a large amount of trial and error until you find something that works for you. For some people, hair loss may still worsen despite treatment. Medical treatments Topical agents You can rub medications into your scalp to help stimulate hair growth. A number of medications are available, both over-the-counter (OTC) and by prescription: Minoxidil (Rogaine) is available OTC and applied twice daily to the scalp, eyebrows, and beard. It’s relatively safe, but it can take a year to see results. Anthralin (Dritho-Scalp) is a drug that irritates the skin in order to spur hair regrowth. Corticosteroid creams such as clobetasol (Impoyz), foams, lotions, and ointments are thought to work by decreasing inflammation in the hair follicle. Topical immunotherapy is a technique in which a chemical like diphencyprone is applied to the skin to spark an allergic rash. The rash, which resembles poison oak, may induce new hair growth within six months, but you’ll have to continue the treatment to maintain the regrowth. Injections Steroid injections are a common option for mild, patchy alopecia to help hair grow back on bald spots. Tiny needles inject the steroid into the bare skin of the affected areas. The treatment has to be repeated once every one to two months to regrow hair. It doesn’t prevent new hair loss from occurring. Oral treatments Cortisone tablets are sometimes used for extensive alopecia, but due to the possibility of side effects, this option should be discussed with a doctor. Oral immunosuppressants, like methotrexate and cyclosporine, are another option you can try. They work by blocking the immune system’s response, but they can’t be used for a long period of time due to the risk of side effects, such as high blood pressure, liver and kidney damage, and an increased risk of serious infections and a type of cancer called lymphoma. Light therapy Light therapy is also called photochemotherapy or just phototherapy. It’s a type of radiation treatment that uses a combination of an oral medication called psoralens and UV light. Alternative therapies Some people with alopecia areata choose alternative therapies to treat the condition. These may include: aromatherapy acupuncture microneedling probiotics low-level laser therapy (LLLT) vitamins, like zinc and biotin aloe vera drinks and topical gels onion juice rubbed onto the scalp essential oils like tea tree, rosemary, lavender, and peppermint other oils, like coconut, castor, olive, and jojoba an “anti-inflammatory” diet, also called the “autoimmune protocol,” which is a restrictive diet that mainly includes meats and vegetables scalp massage herbal supplements, such as ginseng, green tea, Chinese hibiscus, and saw palmetto Most alternative therapies haven’t been tested in clinical trials, so their effectiveness in treating hair loss isn’t known. The effectiveness of each treatment will vary from person to person. Some people don’t even need treatment since their hair grows back on its own. In other cases, however, people never see improvement despite trying every treatment option. You might need to try more than one treatment to see a difference. Keep in mind that hair regrowth may only be temporary. It’s possible for the hair to grow back and then fall out again. Homeopathic Medicines for Alopecia Areata 1. Arsenic Album – Homeopathic Medicine for Alopecia Areata Accompanied by Itching and Burning on the Scalp Arsenic Album is a recommended homeopathic treatment for alopecia areata which appears as circular bald patches along with itching and burning on the scalp. These symptoms aggravate at night. In some cases, the scalp is also sensitive. 2. Vinca Minor – Another Useful Homeopathic Medicine for Alopecia Areata Vinca Minor is another useful homeopathic medicine for alopecia areata. It works well in cases where there is a tendency for hair to fall in spots which are then replaced by white hair. Along with this, itching and violent scratching over the scalp may also be present. 3. Baryta Carb, Lycopodium, and Silicea – Homeopathic Medicines for Alopecia Areata in Young People The most prominently indicated homeopathic medicines for alopecia areata in young people are Baryta Carb, Lycopodium, and Silicea. Baryta Carb helps in recovering from bald patches that occur on the top of the scalp. Lycopodium works well for bald patches on the temples. Silicea is a good homeopathic treatment for alopecia areata occuring on the back of the scalp. 4. Fluoric Acid – Excellent Homeopathic Medicine for Alopecia Areata Fluoric Acid is among the top grade homeopathic remedies for alopecia areata. Fluoric Acid helps in the regrowth of hair in the bald patches. Fluoric Acid is also a highly suitable homeopathic medicine for hair fall after fever. 5. Phosphorus – A Wonderful Homeopathic Medicine for Alopecia Areata Another homeopathic medicine that has shown its effectiveness in alopecia areata cases is Phosphorus. Phosphorus works well in cases where a person suffers from the loss of hair in patches. Along with hair loss, dandruff on the scalp is also present. In some cases, there is itching on the scalp along with hair fall. Phosphorus also seems to help cases of traction alopecia. In such situations, there is a receding hair line. Hair fall from the forehead is prominent. A person needing Phosphorus may crave cold drinks and ice creams.

Lupus is a chronic autoimmune disease in which the body’s immune system becomes hyperactive and attacks normal, healthy tissue. This results in symptoms such as inflammation, swelling, and damage to joints, skin, kidneys, blood, the heart, and lungs. Under normal function, the immune system makes proteins called antibodies in order to protect and fight against antigens such as viruses and bacteria. Lupus makes the immune system unable to differentiate between antigens (a substance capable of inducing a specific immune response) and healthy tissue. This leads the immune system to direct antibodies against the healthy tissue – not just antigens – causing swelling, pain, and tissue damage. History The history of lupus can be divided into three periods: classical, neoclassical, and modern. This article concentrates on developments in the present century which have greatly expanded our knowledge about the pathophysiology, clinical-laboratory features, and treatment of this disorder. Lupus in the classical period (1230-1856) The history of lupus during the classical period was reviewed by Smith and Cyr in 1988. Of note are the derivation of the term lupus and the clinical descriptions of the cutaneous lesions of lupus vulgaris, lupus profundus, discoid lupus, and the photosensitive nature of the malar or butterfly rash. The word ‘lupus’ (Latin for ‘wolf’) is attributed to the thirteenth century physician Rogerius who used it to describe erosive facial lesions that were reminiscent of a wolf’s bite. Classical descriptions of the various dermatologic features of lupus were made by Thomas Bateman, a student of the British dermatologist Robert William, in the early nineteenth century; Cazenave, a student of the French dermatologist Laurent Biett, in the mid-nineteenth century; and Moriz Kaposi (born Moriz Kohn), student and son-in-law of the Austrian dermatologist Ferdinand von Hebra, in the late nineteenth century. The lesions now referred to as discoid lupus were described in 1833 by Cazenave under the term “erythema centrifugum,” while the butterfly distribution of the facial rash was noted by von Hebra in 1846. The first published illustrations of lupus erythematosus were included in von Hebra’s text, Atlas of Skin Diseases, published in 1856. Lupus in the neoclassical period (1872- 1948) The Neoclassical era of the history of lupus began in 1872 when Kaposi first described the systemic nature of the disorder: “…experience has shown that lupus erythematosus … may be attended by altogether more severe pathological changes, and even dangerous constitutional symptoms may be intimately associated with the process in question, and that death may result from conditions which must be considered to arise from the local malady.” Kaposi proposed that there were two types of lupus erythematosus; the discoid form and a disseminated (systemic) form. Furthermore, he enumerated various signs and symptoms which characterized the systemic form, including: subcutaneous nodules arthritis with synovial hypertrophy of both small and large joints lymphadenopathy fever weight loss anemia central nervous system involvement The existence of a systemic form of lupus was firmly established in 1904 by the work of Osler in Baltimore and Jadassohn in Vienna. Over the next thirty years, pathologic studies documented the existence of nonbacterial verrucous endocarditis (Libman-Sacks disease) and wire-loop lesions in individuals with glomerulonephritis; such observations at the autopsy table led to the construct of collagen disease proposed by Kemperer and colleagues in 1941. This terminology, ‘collagen vascular disease,’ persists in usage more than seventy years after its introduction. Lupus in the modern era (1948-present) The sentinel event which heralded the modern era was the discovery of the LE cell by Hargraves and colleagues in 1948. The investigators observed these cells in the bone marrow of individuals with acute disseminated lupus erythematosus and postulated that the cell “…is the result of…phagocytosis of free nuclear material with a resulting round vacuole containing this partially digested and lysed nuclear material…”. This discovery ushered in the present era of the application of immunology to the study of lupus erythematosus; it also allowed the diagnosis of individuals with much milder forms of the disease. This possibility, coupled with the discovery of cortisone as a treatment, changed the natural history of lupus as it was known prior to that time. Two other immunologic markers were recognized in the 1950s as being associated with lupus: the biologic false-positive test for syphilis and the immunofluorescent test for antinuclear antibodies. Moore, working in Baltimore, demonstrated that systemic lupus developed in 7 percent of 148 individuals with chronic false-positive tests for syphilis and that a further 30 percent had symptoms consistent with collagen disease. Friou applied the technique of indirect immunofluorescence to demonstrate the presence of antinuclear antibodies in the blood of individuals with systemic lupus. Subsequently, there was the recognition of antibodies to deoxyribonucleic acid (DNA) and the description of antibodies to extractable nuclear antigens (nuclear ribonucleoprotein [nRNP], Sm, Ro, La), and anticardiolipin antibodies; these autoantibodies are useful in describing clinical subsets and understanding the etiopathogenesis of lupus. The Lupus Erythematosus cell is discovered. This discovery ushered in the present era of the application of immunology to the study of lupus erythematosus; it also allowed the diagnosis of individuals with much milder forms of the disease. This possibility, coupled with the discovery of cortisone as a treatment, changed the natural history of lupus as it was known prior to that time. Two other immunologic markers were recognized in the 1950s as being associated with lupus: the biologic false-positive test for syphilis and the immunofluorescent test for antinuclear antibodies. Moore, working in Baltimore, demonstrated that systemic lupus developed in 7 percent of 148 individuals with chronic false-positive tests for syphilis and that a further 30 percent had symptoms consistent with collagen disease. Friou applied the technique of indirect immunofluorescence to demonstrate the presence of antinuclear antibodies in the blood of individuals with systemic lupus. Subsequently, there was the recognition of antibodies to deoxyribonucleic acid (DNA) and the description of antibodies to extractable nuclear antigens (nuclear ribonucleoprotein [nRNP], Sm, Ro, La), and anticardiolipin antibodies; these autoantibodies are useful in describing clinical subsets and understanding the etiopathogenesis of lupus. Genetic component recognized The familial occurrence of systemic lupus was first noted by Leonhardt in 1954 and later studies by Arnett and Shulman at Johns Hopkins. Subsequently, familial aggregation of lupus, the concordance of lupus in monozygotic twin pairs, and the association of genetic markers with lupus have been described over the past twenty years. Molecular biology techniques have been applied to the study of human lymphocyte antigen (HLA) Class II genes to determine specific amino acid sequences in these cell surface molecules that are involved in antigen presentation to T-helper cells in individuals with lupus. These studies have resulted in the identification of genetic-serologic subsets of systemic lupus that complement the clinico-serologic subsets noted earlier. It is hoped by investigators working in this field that these studies will lead to the identification of etiologic factors (e.g., viral antigens/proteins) in lupus. Over the last decade or so, we have witnessed significant advances in the understanding of the genetic basis of lupus, and of the immunological derangements which lead to the clinical manifestations of the disease. Advances have been made in the assessment of the impact of the disease in general, and in minority population groups, in particular and efforts are being made towards defining lupus biomarkers which may help both to predict disease outcome and to guide treatments. Prevalence and incidence Lupus appears to be a relatively uncommon disease. The prevalence has been estimated in several different countries mostly, however, in the developed world, using different techniques of case ascertainment. The authors of one metaanalysis (including those studies in Europe and North America) suggested an overall weighted mean prevalence of 24/100,000 population.Three English studies have produced prevalence estimates of: 12/100,000, 25/100,000 and 28/100,000 and the only study in N Ireland estimated a rate of 254/100,000. Studies in countries which include predominantly white populations have resulted in lower prevalence estimates (e.g. England) when compared with studies among populations with a significant proportion of Afro-Caribbeans, Asians and Hispanics. It is more difficult to estimate incidence for a rare disease but studies in both North America and Europe have produced estimates that are similar (approximately 1 – 8 cases per 100,000 persons per year).The lowest rates of incidence were seen among Caucasian Americans, Canadians and Spaniards and the highest rates among Asian (10.0 cases /100,000) and Afro-Caribbean (21.9 cases /100,000) residents of the UK. In an average UK practice list of 3000 patients, therefore, a GP would not expect to see a new case of lupus more often than every 7-10 years. Types There are three main types of lupus: Systemic lupus erythematosus (eh-RITH-eh-muh-TOE-sus) is the most common form. It’s sometimes called SLE, or just lupus. The word “systemic” means that the disease can involve many parts of the body such as the heart, lungs, kidneys, and brain. SLE symptoms can be mild or serious. Systemic lupus Discoid lupus erythematosus mainly affects the skin. A red rash may appear, or the skin on the face, scalp, or elsewhere may change color. Discoid lupus Drug-induced lupus is triggered by a few medicines. It’s like SLE, but symptoms are usually milder. Most of the time, the disease goes away when the medicine is stopped. More men develop drug-induced lupus because the drugs that cause it, hydralazine and procainamide, are used to treat heart conditions that are more common in men. Risk factors Risk factors for developing lupus include: Gender – more than 90% of people with lupus are women. Before puberty, boys and girls are equally likely to develop the condition Age – symptoms and diagnosis of lupus often occur between the ages of 15-45. Around 15% of people who are later diagnosed with lupus, experienced symptoms before the age of 18 Race – in the US, lupus is more common, more severe and develops earlier in African-Americans, Hispanics/Latinos, Asian-Americans, Native Americans, Native Hawaiians and Pacific Islanders than in the white population Family history – first-degree or second-degree relatives of a person with lupus have a 4-8% risk of developing lupus. One study suggests that sisters of lupus patients have as high as a 10% chance of developing lupus. In another 10-year prospective study, researchers observed a 7% incidence of lupus in first-degree relatives of lupus patients. Causes Many (but not all) scientists believe that lupus develops in response to a combination of factors both inside and outside the body, including hormones, genetics, and environment. Hormones Hormones are the body’s messengers. They regulate many of the body’s functions. Because nine of every 10 occurrences of lupus are in females, researchers have looked at the relationship between estrogen and lupus. While men and women both produce estrogen, its production is much greater in females. Many women have more lupus symptoms before menstrual periods and/or during pregnancy when estrogen production is high. This may indicate that estrogen somehow regulates the severity of lupus. However, no causal effect has been proven between estrogen, or any other hormone, and lupus. And, studies of women with lupus taking estrogen in either birth control pills or as postmenopausal therapy have shown no increase in significant disease activity. Researchers are now focusing on differences between men and women, beyond hormone levels, which may account for why women are more prone to lupus and other autoimmune diseases. Genetics Researchers have now identified more than 50 genes which they associate with lupus. These genes are more commonly seen in people with lupus than in those without the disease, and while most of these genes have not been shown to directly cause lupus, they are believed to contribute to it. In most cases, genes are not enough. This is especially evident with twins who are raised in the same environment and have the same inherited features yet only one develops lupus. Although, when one of two identical twins has lupus, there is an increased chance that the other twin will also develop the disease (30% percent chance for identical twins; 5-10% percent chance for fraternal twins). Lupus can develop in people with no family history of it, but there are likely to be other autoimmune diseases in some family members. Certain ethnic groups (people of African, Asian, Hispanic/Latino, Native American, Native Hawaiian, or Pacific Island descent) have a greater risk of developing lupus, which may be related to genes they have in common. Environment Most researchers today think that an environmental agent, such as a virus or possibly a chemical, randomly encountered by a genetically susceptible individual, acts to trigger the disease. Researchers have not identified a specific environmental agent as yet but the hypothesis remains likely. While the environmental elements that can trigger lupus and cause flares aren’t fully known, the most commonly cited are ultraviolet light (UVA and UVB); infections (including the effects of the Epstein-Barr virus), and exposure to silica dust in agricultural or industrial settings. Symptoms Lupus can have many symptoms, and they differ from person to person. Some of the more common ones are Pain or swelling in joints Muscle pain Fever with no known cause Red rashes, most often on the face (also called the “butterfly rash”) Chest pain when taking a deep breath Hair loss Pale or purple fingers or toes Sensitivity to the sun Swelling in legs or around eyes Mouth ulcers Swollen glands Feeling very tired Symptoms may come and go. When you are having symptoms, it is called a flare. Flares can range from mild to severe. New symptoms may appear at any time. Diagnosis and test Diagnosing lupus is difficult because signs and symptoms vary considerably from person to person. Signs and symptoms of lupus may vary over time and overlap with those of many other disorders. No one test can diagnose lupus. The combination of blood and urine tests, signs and symptoms, and physical examination findings leads to the diagnosis. Laboratory tests Blood and urine tests may include: Complete blood count: This test measures the number of red blood cells, white blood cells and platelets as well as the amount of hemoglobin, a protein in red blood cells. Results may indicate you have anemia, which commonly occurs in lupus. A low white blood cell or platelet count may occur in lupus as well. Erythrocyte sedimentation rate: This blood test determines the rate at which red blood cells settle to the bottom of a tube in an hour. A faster than normal rate may indicate a systemic disease, such as lupus. The sedimentation rate isn’t specific for any one disease. It may be elevated if you have lupus, another inflammatory condition, cancer or an infection. Kidney and liver assessment: Blood tests can assess how well your kidneys and liver are functioning. Lupus can affect these organs. Urinalysis. An examination of a sample of your urine may show an increased protein level or red blood cells in the urine, which may occur if lupus has affected your kidneys. Antinuclear antibody (ANA) test. A positive test for the presence of these antibodies — produced by your immune system — indicates a stimulated immune system. While most people with lupus have a positive ANA test, most people with a positive ANA do not have lupus. If you test positive for ANA, your doctor may advise more-specific antibody testing. Imaging tests If your doctor suspects that lupus is affecting your lungs or heart, he or she may suggest: Chest X-ray. An image of your chest may reveal abnormal shadows that suggest fluid or inflammation in your lungs. Echocardiogram. This test uses sound waves to produce real-time images of your beating heart. It can check for problems with your valves and other portions of your heart. Biopsy Lupus can harm your kidneys in many different ways, and treatments can vary, depending on the type of damage that occurs. In some cases, it’s necessary to test a small sample of kidney tissue to determine what the best treatment might be. The sample can be obtained with a needle or through a small incision. Treatment and medications Treatment for lupus depends on your signs and symptoms. Determining whether your signs and symptoms should be treated and what medications to use requires a careful discussion of the benefits and risks with your doctor. As your signs and symptoms flare and subside, you and your doctor may find that you’ll need to change medications or dosages. The medications most commonly used to control lupus include: Nonsteroidal anti-inflammatory drugs (NSAIDs): Over-the-counter NSAIDs, such as naproxen sodium (Aleve) and ibuprofen (Advil, Motrin IB, others), may be used to treat pain, swelling and fever associated with lupus. Stronger NSAIDs are available by prescription. Side effects of NSAIDs include stomach bleeding, kidney problems and an increased risk of heart problems. Antimalarial drugs: Medications commonly used to treat malaria, such as hydroxychloroquine (Plaquenil), also can help control lupus. Side effects can include stomach upset and, very rarely, damage to the retina of the eye. Corticosteroids: Prednisone and other types of corticosteroids can counter the inflammation of lupus but often produce long-term side effects including weight gain, easy bruising, thinning bones (osteoporosis), high blood pressure, diabetes and increased risk of infection. The risk of side effects increases with higher doses and longer term therapy. Immunosuppressants: Drugs that suppress the immune system may be helpful in serious cases of lupus. Examples include azathioprine (Imuran, Azasan), mycophenolate (CellCept), leflunomide (Arava) and methotrexate (Trexall). Potential side effects may include an increased risk of infection, liver damage, decreased fertility and an increased risk of cancer. A newer medication, belimumab (Benlysta), also reduces lupus symptoms in some people. Side effects include nausea, diarrhea and fever. Prevention There is no known way to prevent Lupus since there is no known cause as yet. You can help manage flare-ups though: Avoid known triggers such as sunlight, stress, and lack of sleep Manage your diet Get adequate exercise