Why Genomic Testing is Vital for Early Detection and Effective Management of Lupus?

We all fight various battles in our life. But the most difficult one is the battle with yourself. And this battle is being fought by every autoimmune disease warriors on a daily basis. And to celebrate one such group of warriors, 10th of May is observed as World Lupus day, to honor those affected with lupus. The theme for this year is “Make Lupus Visible” which aims at spreading the awareness about lupus and its impact on millions of people from around the world living with this chronic and debilitating disease.

The battle within

Lupus is a term that can refer to different types of lupus erythematosus, which are autoimmune diseases that cause the body‘s immune system to attack its own tissues and organs. The most common and serious type is systemic lupus erythematosus (SLE), which can affect many parts of the body, such as the joints, skin, kidneys, blood cells, brain, heart and lungs. The exact cause of lupus is unknown, but it may be influenced by genetic, environmental, hormonal, and infectious factors.

According to the Lupus Foundation of America, it is estimated that 1.5 million Americans have some form of lupus. Lupus is more prevalent among certain ethnic groups, such as African American, Hispanic/ Latina, Asian American, Native American, and Pacific Islander women. However, the prevalence may vary widely depending on the region, the method of diagnosis, and the type of lupus.

Lupus can be difficult to diagnose because its signs and symptoms often mimic those of other ailments. There is no single test that can definitively diagnose lupus, but a combination of tests and criteria can help doctors make a diagnosis. Some of the steps involved in diagnosing lupus include:

• Medical history
• Physical examination
• Laboratory tests such as complete blood count (CBC), erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), antinuclear antibody (ANA) test, anti-double stranded DNA (anti-dsDNA) test or anti-Smith (anti-Sm) test, complement test, urinalysis, etc.
• Imaging tests such as chest X-ray, echocardiogram, ultrasound, MRI, or CT, etc.
• Biopsy

Your doctor will use the results from the above tests and examinations to see if you meet the criteria for diagnosing lupus established by the American College of Rheumatology (ACR) or the Systemic Lupus International Collaborating Clinics (SLICC). These criteria include various clinical and immunological features that are common in lupus patients. You need to have at least four out of eleven ACR criteria or four out of seventeen SLICC criteria to get a positive diagnosis.

Identifying the risk factors

Most autoimmune conditions have similar or overlapping symptoms such as fatigue, fever, joint pain with stiffness and swelling, shortness of breath, chest pain, dry eyes, headaches, confusion, memory loss, etc. Along with these some of the classical symptoms of lupus includes a butterfly-shaped rash on the face that covers the cheeks and bridge of the nose, skin lesions that appear or worsen with sun exposure, and fingers and toes that turn white or blue when exposed to cold or during stressful periods. However, lupus can affect different people in different ways, and the symptoms may vary depending on which body systems are involved. Lupus can also cause flares, which are periods when the symptoms get worse, and remissions, which are periods when the symptoms improve or disappear. 

Hence it is extremely important that you identify the trigger factors and try to limit your exposure as much as possible in order to avoid flare ups and manage your condition. Some of the common risk factors include: 

Environmental factors: Lupus may be triggered or worsened by certain environmental exposures, such as infections, medications, foods, sunlight, stress, or smoking.
Genetic predisposition: Some people may have a genetic predisposition for lupus, which means they have inherited certain gene variations that make them more likely to develop the disease.
Family history: Lupus tends to run in families, and having a close relative with lupus may increase your risk of developing the disease.
Hormones: Lupus may be influenced by hormonal changes, such as those that occur during puberty, pregnancy, or menopause. Some studies suggest that estrogen may play a role in lupus susceptibility and severity.
Sex: Lupus is more common in women than men, especially during the childbearing years.
Age: Lupus can occur at any age, but it usually starts in early adulthood, between the ages of 15 and 45.
Race or ethnicity: Lupus is more prevalent among certain ethnic groups, such as African American, Hispanic/ Latina, Asian American, Native American, and Pacific Islander women.

Coping with Lupus

Lupus can be a challenging condition to cope with, but there are some strategies that can help you manage your symptoms and improve your quality of life. Lupus being an autoimmune condition, the priority should be given to following a diet and lifestyle that can avoid any inflammatory responses. Lupus can affect your physical and mental health in many ways, so it is essential to take good care of yourself. 

• Have a balanced and nutritious diet: Includes plenty of fruits, vegetables, whole grains, lean protein, and healthy fats. Avoid foods that may trigger inflammation or allergies, such as processed foods, red meat, dairy products, gluten, or nightshade vegetables.
• Good sleep: Aim for at least seven to nine hours of quality sleep every night and take naps during the day if you feel tired. Establish a regular bedtime routine and avoid caffeine, alcohol, nicotine, or screens before bed.
• Exercising regularly: Physical activity can help reduce stress, improve mood, strengthen muscles and bones, and prevent weight gain. Choose low-impact exercises that are gentle on your joints and muscles, such as walking, swimming, cycling, or tai chi. Start slowly and gradually increase the intensity and duration of your workouts. Listen to your body and stop if you feel pain or discomfort.
• Protect yourself from the sun: Sun exposure can trigger or worsen lupus rashes and flares, so it is important to protect yourself from the harmful UV rays. Wear sunscreen with SPF 30 or higher every day and reapply it every two hours when outdoors. Wear protective clothing such as hats, sunglasses, etc.
• Manage stress: Stress can trigger or aggravate lupus flares, so it is important to find healthy ways to cope with stress. You can try relaxation techniques such as deep breathing, meditation, yoga, or massage. You can also engage in hobbies or activities that bring you joy and satisfaction, such as reading, listening to music, gardening, or painting. Avoid negative coping strategies such as smoking, drinking alcohol, or using drugs.
• Follow your treatment plan. Take your medications as prescribed by your doctor and keep up with your regular check-ups and lab tests. Talk to your doctor if you have any questions or concerns about your treatment or if you experience any side effects.
• Monitor your symptoms: Keep track of your symptoms and how they affect your daily activities. This can help you identify any triggers or patterns that may worsen or improve your condition. You can use a journal, a calendar, an app, or any other method that works for you. Share this information with your doctor to help adjust your treatment plan if needed.
• Know your genes: Undergoing a genetic predisposition testing can help you understand your genetic predisposition towards developing lupus. Combined with a detailed family history, it can also provide risk assessment for your other family members as well. Reach out to a genetic counselor to know more. 

How does Genomepatri help in understanding Lupus?

Mapmygenome‘s Genomepatri is a preventive genomic test that examines an individual‘s DNA to provide personalized information about their health, traits, nutrition, and more.

• Genetic predisposition: Genomepatri can identify specific genetic variations that may increase an individual‘s risk of developing Lupus. By understanding this risk, individuals can take proactive steps to manage their health and reduce the likelihood of developing the disease.
• Lifestyle recommendations: Genomepatri can provide personalized recommendations on lifestyle changes that may help manage Lupus. This can include advice on diet, exercise, and other lifestyle factors that may contribute to the development or management of the disease.
• Genetic counseling: Genetic counseling can be particularly important in the context of Lupus, which has a complex genetic basis and may involve multiple genes and environmental factors.

Living with lupus can be isolating and overwhelming at times, so it is helpful to have a strong support network of people who care about you and understand what you are going through. You can reach out to your family, friends, partner, or co-workers for emotional and practical support. You can also join a support group for people with lupus, either online or in person, where you can share your experiences, tips, and advice with others who have similar challenges. Remember that you don‘t have to fight this battle alone.