28 diseases - Graves' disease

DNA test for genetic predisposition to Graves' disease

Graves' disease is the most common cause of over-secretion of hormones from the thyroid gland. It is a multi-factor condition that occurs when a hereditary predisposition is combined with the effect of certain adverse factors.

Warn yourself from diseases
Graves' disease
In Version 10 of the International Classification of Diseases, Graves' is listed as Thyrotoxicosis with diffuse goiter. This name for the disease contains the main clinical sign: thyrotoxicosis (hyperthyroidism), characterized by a set of symptoms that result from increased secretion of thyroid gland hormones.

The disease's other names, Basedow disease and Graves' disease, are derived from the surnames of scientists who made a special contribution to the study and description of the complex clinical picture of this illness.
Thyrotoxicosis can be a sign of other diseases, but Graves' disease accounts for over 80% of cases where hyperthyroidism is identified. Women are more prone to the disease: the ratio of women to men is 7:1. The disease occurs most often at a young age, between 20 and 40, but later onset is not a rare occurrence, either.


The precise cause of Graves' disease has not been established, but numerous studies show that this is a pathology with an autoimmune origin. The adverse effect of external or internal factors disrupts the functioning of the immune system, which starts to manufacture antibodies against its own healthy tissues. The antibodies bind to thyroid-stimulating hormone (TSH) receptors, activating the cells of the thyroid, increasing the secretion of hormones and giving rise to the classic symptoms of the disease. The risk factors that have received most study are:

Inherited predisposition
Excessive mental stress
Certain infectious agents

The disease is frequently triggered by intense stress (bereavement, for example) or an acute infection.

Inherited predisposition
Excessive mental stress
Certain infectious agents
The genetic factor in the development of Graves' disease

The significance of the hereditary factor was established by studying the family history of patients and analyzing the population statistics. It is now known that the close relatives (daughters, sons, brothers, sisters, parents) of a Graves' disease sufferer have a 9% risk of developing the disease. If one of a pair of identical twins has the disease, the other has a 60% chance of developing it too.

Genetic studies have identified ethnicity-dependent gene structures responsible for the disease: in Caucasian people, these are HLA-B8 and DRw3; in Japanese and Chinese people, HLA-Bw46 and HLA-Bw36. Studies of familial cases have identified a link between Graves' disease and another autoimmune condition of the thyroid that manifests as hyperthyroidism: autoimmune thyroiditis. Cases have been described of a progression of symptoms from those typical of Graves’ disease to thyroiditis and back.

Graves' disease: symptoms and complications

Graves' disease is characterized by three main symptoms: goiter, ophthalmopathy and signs of thyrotoxicosis (hyperthyroidism).


(enlarged thyroid) can be a symptom of various diseases of the thyroid gland. In Graves' disease, the enlargement is even, with no obvious areas of hardening. The gland feels soft and healthy to the touch. There is no correlation between the size of the thyroid gland and the severity of the disease: often, a pronounced enlargement of the thyroid is accompanied by only mild initial symptoms of hypersecretion.


is caused by an elevated concentration of thyroid hormones in the body. The thyroid hormones are thyroxine (Т4) and triiodothyronine (Т3). Their synthesis is mainly regulated by the thyroid-stimulating hormone (TSH) produced in the pituitary gland. Like most hormones, they control, not just one single function, but a whole set of interrelated micro- and macro-processes.

The clinical manifestations of hyperthyroidism as therefore very varied:

  • Symptoms of damage to the nervous system:

    irritability, weepiness, fits of aggression, insomnia, tremor (slight shaking) in the hands, weakness, fatigue.

  • Signs of impaired cardiovascular function:

    increased heart rate, fluctuations in blood pressure with raised systolic (upper) and lowered diastolic (lower) readings.

  • Digestive disorder:

    stomach rumbling, frequent ill-formed stool, heightened appetite, nausea, heartburn with a bitter taste.

  • Signs of metabolic dysfunction:

    weight loss, weakness, osteoporosis, nail fragility, hair loss, unexplained increase in body temperature to subfebrile levels (37–37.5°).

  • Other endocrine dysfunctions:

    reduced libido; menstrual cycle disruptions, infertility, miscarriage, stillbirth and premature birth in women; gynecomastia and erectile dysfunction in men.

Endocrine ophthalmopathy

with an overactive thyroid is another typical symptom of the disease. In its classic form, it manifests itself as exophthalmos, where patients have a distinctive appearance with bulging eyes. The eyeballs protrude (often asymmetrically) and patients complain of dry eyes, a sensation of sand, swollen eyelids, inability to stand bright light, and double vision.


are typical in severe cases of Graves' disease. These usually take time to develop, but with acute onset many complications can occur as initial symptoms:

  1. 1

    Endocrine psychosis;

  2. 2

    Atrial fibrillation, either permanent or paroxysmal;

  3. 3

    Embolic complications;

  4. 4

    Cardiovascular deficiency;

  5. 5

    Thyrotoxic hepatosis;

  6. 6


  7. 7

    Adrenal deficiency;

  8. 8

    Dystrophic processes in internal organs;

  9. 9

    Cachexia (extreme exhaustion)

In especially severe cases, a life-threatening deterioration of symptoms known as a thyroid storm or thyrotoxic crisis can occur. Mental agitation, severe arrhythmia, extremely high blood pressure, renal deficiency, generalized edema, and fever can have unhappy consequences. Without urgent medical help or with inadequate treatment, the condition can have a fatal outcome.


Two scales are used to classify Graves' disease. The first describes the size of the thyroid gland (goiter measurements). The second describes the extent of thyrotoxicosis.

In terms of thyroid size, cases are divided into three groups:

Class 0:

no enlargement of the thyroid.

Class 1:

goiter is not visible to the eye but can be palpated.

Class 2:

goiter is visible to the naked eye and forms a distinctive thickening of the lower neck.

The extent of hormonal damage is classified according to its severity:

Mild occurrence (subclinical form):
there are no complaints, or they barely bother the patient, but a slight lowering of TSH can be detected in the laboratory, while T3 and T4 levels are at the top end of the normal range.
Medium severity (manifest form):
hyperthyroidism manifests itself in evident symptoms, the TSH count is significantly lowered, and Т3 and Т4 are elevated.
Severe occurrence (complicated form):

typical complications involving the heart, blood vessels, and nervous system are added to the clinical picture; severe metabolic dysfunctions become apparent.

Take the DNA test
Check yourself and your family!

The treatment of endocrine conditions entails intervention in the delicate system of humoral regulation. For this reason, a great deal of effort and considerable resources are needed to put together an optimal treatment program for these diseases.

Protect yourself with the trusty shield of early prevention! Take a DNA test for genetic predisposition to Graves' disease.


To confirm a diagnosis, the endocrinologist uses the following diagnostic methods:

Anthropometric examination:

measurement of weight and height;

Blood pressure measurement;
Visual and palpatory determination of the size and consistency of the thyroid gland;
Laboratory testing of thyroid hormone levels:

TSH, free Т4 and free Т3 counts are analyzed;

Ultrasound scan:

helps establish the size of the thyroid and identify its structure – its homogeneity, the presence of nodules, tumors, or signs of inflammation (for differential diagnosis).

Consultation with an ophthalmologist;
ECG and consultation with a cardiologist,

if signs of cardiovascular dysfunction are present;

Isotope scintigraphy:

helps differentiate Graves' disease from nodular thyroid diseases;

Fine-needle biopsy:

indicated where a tumorous process is suspected;

Immunological examination:

helps confirm or rule out autoimmune origin of hyperthyroidism;

Blood analysis,

both general and biochemical. Helps identify certain complications of the basal disease.

Graves' disease: treatment and prognosis

The first priority is to correct the hyperthyroidism; this is usually done by means of complex treatment. An additional goal of the treatment is to suppress the autoimmune reaction in order to stabilize the illness. It is equally important to prevent stable complications of the cardiovascular, digestive and nervous systems.

Lifestyle adjustment

For the main treatment to be as effective as possible, diet and lifestyle adjustments are needed:

Avoiding food and medicines with a high iodine content: iodized salt, certain vitamin/mineral complexes, iodine-containing contrast agents;
Giving up smoking, coffee and strong tea;
Drastically limiting physical load;
Learning relaxation and anti-stress techniques;
Taking herbal sedatives.

Drug therapy

The main conservative therapy uses thyrostatics, medicines that block the synthesis of thyroid-stimulating hormones. The most popular drugs in this class are imidazole and thiouracil. In most cases, a correctly selected dosage of these will bring about a rapid regression of symptoms. A further advantage of thyrostatics is their ability to reduce immune cell activity.

Once the pathological symptoms have been halted and hormone levels normalized, the dosage of thyrostatics is reduced. Treatment is carried out under close medical supervision. These drugs are prescribed for long periods, up to 18 months. There is a recurrence within a year of stopping thyrostatics in about a half of cases.


are generally used during preoperative preparation. These iodine compounds have a thyrostatic effect, but, as the effect is short-lived, medicines of this class are not usually included in standard treatment protocols for Graves' disease.


are part of the array of symptomatic therapies designed to correct cardiovascular dysfunction. These drugs normalize blood pressure and correct arrhythmic symptoms.


are hormonal preparations analogous to adrenal cortex hormones. Glucocorticoids are usually prescribed for severe forms of the disease.


A rapid therapeutic effect can be achieved by surgical means: a full or partial thyroidectomy followed by hormone replacement therapy. Operative therapy is indicated where conservative measures are ineffective, where there is thyrostatic intolerance, or where the goiter is particularly large.

An operation is frequently resorted to with child patients, because the disease is often particularly severe in this patient group.

Radioiodine therapy

This treatment method is similar in effect to surgery and is less traumatic, but it takes longer. The patient drinks a radioactive iodine preparation that concentrates in the thyroid tissues and destroys them. After treatment, the level of thyroid-stimulating hormone falls below physiological values, so the patient is prescribed lifelong hormone replacement therapy.


Prevention of Graves' disease is non-specific.

The following are recommended to prevent the disease and its early onset:

A healthy lifestyle;
Giving up smoking;
Correct nutrition;
Timely treatment of infectious and inflammatory diseases;
Periodic preventive check-ups.

As the condition has a clearly established genetic character, it is important to know your family history of Graves' disease. All patients in the risk group should be seen by an endocrinologist at least once a year.

Your future in your hands!

A DNA test is the only examination that can identify a genetic predisposition to Graves' disease. The test results will give your doctor valuable information for compiling an individual program of preventive and diagnostic measures.

Don't wait until you are ill! Take a DNA test for genetic predisposition to Graves' disease – and begin prevention as soon as possible.