The Genetic Connections in Graves’ Disease

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

Just below your voice box is a small, seemingly quiet gland with a big job…controlling how your body uses energy, among other jobs. This is the thyroid, and when it becomes too active, such as in Graves’ disease, it may throw your whole body off balance.

The immune system can mistakenly attack the thyroid, causing it to make too little or too much of the thyroid hormone. A hormone overload in Graves’ disease may speed up your heart, make it hard to sleep, cause weight changes, and even affect your eyes. Knowing how Graves’ disease works may help people notice the signs early and get the right treatment.

What Is Graves’ Disease?

When the thyroid gland becomes too active, as in Graves’ disease, it can throw your whole body off balance. In Graves’ disease the immune system mistakenly attacks the thyroid, causing it to produce too much thyroid hormone. This overload of hormones affects many systems in the body, from your metabolism to your heart, eyes, and skin.

Graves’ disease is the most common cause of hyperthyroidism (an overactive thyroid) and typically develops in people under 40, though it can appear at any age. It affects more women than men and often runs in families.

What Are the Main Symptoms of Graves’ Disease?

Graves’ disease affects many parts of the body, and the symptoms can show up in different ways for different people. Here’s what each common symptom means, in simple terms:

Fast or Irregular Heartbeat: Your heart may beat faster than normal or skip beats, even when you’re resting. It might feel like your heart is racing or pounding in your chest.
Weight Loss Even If You’re Eating Normally or More: You may lose weight without trying, even if you feel hungry all the time and eat more than usual. That’s because your body is burning energy too quickly.
Feeling Nervous, Anxious, or Moody: You might feel restless, jumpy, or worried all the time. You could also get irritated or upset more easily than usual.
Shaky Hands or Fingers: Your hands might tremble slightly, especially when you hold them out in front of you. This is because your body is on “high alert” from too much thyroid hormone.
Trouble Sleeping: You may have a hard time falling asleep or staying asleep. Even after sleeping, you might still feel tired.
Too Much Sweating or Feeling Hot All the Time: You might sweat more than usual or feel overheated, even in cool weather or air conditioning.
Going to the Bathroom More Often: You might need to have bowel movements more often than normal, or you may have mild diarrhea.
Feeling Tired or Weak: Even though your body is working overtime, you can feel very tired or worn out. Your arms or legs might feel weak, especially when climbing stairs or lifting things.
Lighter or Fewer Periods (for Women): Women may notice their periods are lighter, come less often, or sometimes stop altogether. This can also make it harder to get pregnant.
Swelling in the Neck (Goiter): The thyroid gland in your neck may get bigger. This can cause a lump or swelling at the base of your neck, and sometimes it can feel uncomfortable or make swallowing harder.

What Causes Graves’ Disease?

Graves’ disease happens when the immune system mistakenly attacks the thyroid gland, causing it to produce too much hormones. While the exact cause isn’t fully known, both genetic and environmental factors play a role.

Certain life experiences and habits can trigger Graves’ disease in people who are genetically prone. High stress or major life changes can affect the immune system, increasing the risk. Smoking is another important factor, it not only raises the chance of developing Graves’ disease but also makes eye problems related to the disease worse. Other environmental influences may also play a role, but these are the most well-known.

Genetics on Graves’ Disease

Family and twin studies show that genetics play a major role, accounting for 60-80% of the risk. A recent review has gathered findings from multiple genetic studies, starting from early candidate gene research to recent large-scale genome-wide studies involving diverse populations from East Asia and Europe. Key immune function genes such as HLA, CTLA4, and PTPN22 significantly influence susceptibility to Graves’ disease . Genetic variations may also be linked to important clinical features like age of disease onset and severity, thyroid enlargement or goiter, relapse after treatment, and eye complications.

Overall, Graves’ disease is inherited as a complex genetic trait with over 80 genetic risk factors identified so far. Further large-scale research is needed to better understand how these genetic differences affect disease outcomes and in order to develop more personalized treatment strategies.

Can Graves’ Disease Affect the Eyes?

Around 25 to 50 percent of people with Graves’ disease develop eye problems, a condition known as Graves’ ophthalmopathy. These eye issues can include:

Redness, dryness, or irritation
Puffy eyelids
A feeling of grit or sand in the eyes
Bulging eyes (exophthalmos)
Light sensitivity
Blurred or double vision

In rare cases, the condition may lead to vision loss due to pressure on the optic nerve. Eye symptoms may appear before, during, or after other symptoms of hyperthyroidism.

How Is Graves’ Disease Diagnosed?

Diagnosing Graves’ disease begins with a detailed review of the symptoms and medical history, followed by a physical exam. Because Graves’ affects the thyroid gland and the immune system, doctors use several tests to confirm the diagnosis and understand the severity.

Blood Tests: The first step is usually a blood test to measure thyroid hormone levels (T3 and T4) and thyroid-stimulating hormone (TSH). In Graves’ disease, thyroid hormone levels are high while TSH levels are low. Doctors may also check for specific antibodies called thyroid-stimulating immunoglobulins (TSI) that trigger the thyroid to produce excess hormones.
Imaging Tests: An ultrasound of the thyroid gland can show if the gland is enlarged or has nodules. A radioactive iodine uptake or RAIU scan may also be used to see how much iodine the thyroid is absorbing—high uptake often points to Graves’ disease.
Eye Exam: Because Graves’ can affect the eyes, an eye specialist might evaluate for symptoms like swelling, redness, or bulging, helping to detect Graves’ ophthalmopathy.

Early and accurate diagnosis helps guide effective treatment and prevents complications, so it’s important to consult a healthcare provider if you notice telltale symptoms like a fast heartbeat, unexplained weight loss, or eye changes.

Can Graves’ Disease Be Cured?

Graves’ disease can often be managed successfully, but it’s not always curable. Some treatments, like radioactive iodine or surgery, may lead to hypothyroidism or an underactive thyroid, which then requires lifelong thyroid hormone replacement therapy. With the right treatment and regular follow-ups, most people may lead healthy, active lives.

What Are the Treatment Options for Graves’ Disease?

Treatment for Graves’ disease aims to lower the excessive thyroid hormone levels and relieve symptoms. The best approach depends on the person’s health, age, and how severe the disease is. Here are the most common treatment options, explained simply:

Anti-thyroid medications: These work by blocking the thyroid gland’s ability to make thyroid hormones. These medicines help bring hormone levels back to normal and reduce symptoms. They are often the first choice, especially for younger patients or those with mild to moderate symptoms. However, they may take several weeks to work and need to be taken regularly.
Radioactive iodine therapy: Uses a small dose of radioactive iodine, taken by mouth. The iodine is absorbed by the thyroid gland and slowly destroys the overactive thyroid cells, reducing hormone production over time. This is a common and effective treatment, but can cause the thyroid to become underactive, meaning patients may need to take hormone replacement pills for life.
Beta-blockers: These don’t affect thyroid hormone levels directly, but they help control symptoms like a fast or irregular heartbeat, shaking hands, and anxiety. They work by blocking the effects of thyroid hormones on the heart and nervous system, providing quick relief while other treatments take effect.
Surgery (thyroidectomy): This involves removing part or all of the thyroid gland. This option is usually for people with large goiters causing discomfort or trouble swallowing, those who don’t respond well to other treatments, or when thyroid cancer is suspected. Surgery quickly stops hormone overproduction but usually requires lifelong hormone replacement afterward.
Steroids or special eye drops: For people with Graves’ ophthalmopathy (eye problems caused by Graves’ disease), doctors may prescribe steroids to help reduce inflammation and swelling behind the eyes, while eye drops relieve dryness and irritation. In severe cases, other treatments or surgery may be needed to protect vision.

Each treatment has its benefits and risks, and doctors choose the best plan based on your specific situation. It is important to work closely with your healthcare team to find the right approach for you.