Schmidt Syndrome: Causes, Symptoms & Treatment

Schmidt syndrome is also known as polyendocrine autoimmune syndrome type II. It is an autoimmune disorder associated with multiple endocrine gland insufficiencies.

What is Schmidt syndrome?

Schmidt syndrome was originally described by pathologist Martin Benno Schmidt as a combination of Addison’s disease and Hashimoto’s thyroiditis. Hashimoto’s thyroiditis is a chronic inflammation of the thyroid gland that leads to hypothyroidism. Addison’s disease is an underactivity of the adrenal cortex. Over the years, other autoimmune diseases have been added to the definition of Schmidt syndrome. These may or may not be present in addition. Optional autoimmune-related diseases of Schmidt syndrome include alopecia, pernicious anemia, myasthenia gravis, and type 1 diabetes mellitus

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Causes

As with many other autoimmune diseases, the causes of Schmidt syndrome are unknown. However, a genetic predisposition appears to play a role. For example, the HLA class II types DR4 and DR3 have been observed to be more common in patients with Schmidt syndrome than in healthy individuals. HLA stands for Human Leukocyte Antigen. They are glycoproteins that are anchored in the membrane of cells. They give the cell an individual signature and play an important role in immune defense. They help the immune system distinguish between endogenous and exogenous body structures. Schmidt syndrome most commonly affects adult women.

Symptoms, complaints, and signs

The first symptoms typically do not appear until adulthood. The symptoms of Schmidt syndrome result from insufficiency of the various endocrine glands. Damage to the adrenal cortex results in Addison’s disease. Deficiency of the hormone aldosterone causes low blood pressure, hyponatremia, and hyperkalemia. The cortisol deficiency causes a feeling of weakness, nausea and vomiting. Patients have low blood sugar and lose weight. Due to the lack of cortisol, the pituitary gland produces increased ACTH. This elicits a release of melatonin and thus hyperpigmentation of the skin. Patients are conspicuous for their bronze complexion. Hashimoto’s thyroiditis is often accompanied by hypothyroidism. Typical symptoms of hypothyroidism include cold intolerance, doughy edema, hair loss, constipation, weight gain, and loss of libido. At the onset of Hashimoto’s thyroiditis, patients may also develop hyperthyroidism, known as hashitoxicosis. When the body’s immune cells target the beta cells of the pancreas, type 1 diabetes develops. The beta cells produce the hormone insulin, so there is an insulin deficiency due to the damage. Without insulin, glucose cannot be absorbed from the blood by the body’s cells. The result is hyperglycemia. Due to the destruction of melanocytes in the skin, white spot disease can develop. Typical of the disease, which is also called vitiligo, is a patchy loss of pigment. In addition, pernicious anemia may develop. Pernicious anemia is caused by a deficiency of vitamin B12. The cause of the deficiency is chronic inflammation of the gastric mucosa caused by the antibodies in Schmidt syndrome. Due to the inflammation, not enough intrinsic factor is produced by the cells of the stomach. This is necessary for the absorption of vitamin B12 in the intestine. Characteristic of pernicious anemia are symptoms such as burning of the tongue, a red coloration of the tongue, neurological complaints, fatigue, pallor and concentration disorders. Increased susceptibility to infection may also occur.

Diagnosis and course of the disease

If Schmidt syndrome is suspected, antibody determination in the blood is performed. In addition, a diagnosis of the individual hormone glands is performed. For this purpose, the hormones T3, T4, TSH, cortisone, aldosterone, insulin, glucagon, and melatonin are determined in the blood. Depending on the degree of deficiency, some hormones may be found to be deficient. Possibly the HLA class types D3 and D4 can be detected. Additional imaging procedures such as ultrasound or CT may be performed to estimate the extent of the disease and to diagnose individual hormone insufficiencies.

Complications

Schmidt syndrome can lead to a number of different medical conditions.In most cases, those affected suffer from reduced blood pressure and anemia. This can lead to dizziness and, in many cases, loss of consciousness. In the event of a fainting spell, the patient may also injure himself. Furthermore, those affected often feel tired and listless, and the fatigue cannot be compensated for with the help of sleep. Thyroid dysfunction also occurs and has a very negative effect on the quality of life of the affected person. Most patients also suffer from insulin deficiency and require special treatment. Due to the lack of vitamin B12, skin complaints may also occur. In adolescence, patients suffer from concentration disorders and an increased susceptibility to infections. The gastric mucosa can also become inflamed. Schmidt syndrome is usually treated with the help of medication. The affected person usually has to take these for the rest of his or her life. There are no particular complications. However, it cannot be generally predicted whether there will be a reduced life expectancy as a result of the syndrome.

When should you see a doctor?

Schmidt syndrome always requires a visit to a doctor. There can be no self-healing in the process, so medical treatment is essential. Since it is a hereditary disease, it cannot be treated causally, but only purely symptomatically. A doctor should be consulted if the affected person suffers from very low blood pressure. It is not uncommon for hyperpigmentation of the skin to occur. Nausea or a feeling of weakness are also indicators of Schmidt syndrome. If these complaints occur without any particular reason, a doctor should be consulted in any case. Furthermore, hyperthyroidism can also indicate Schmidt syndrome and should be examined by a doctor. In some cases, a permanent inflammation of the gastric mucosa also points to Schmidt syndrome and should also be examined and treated by a doctor. First and foremost, a general practitioner can be consulted in this regard. The further treatment of Schmidt syndrome is then carried out by the respective specialists and depends very much on the exact nature and severity of the complaints.

Treatment and therapy

In Schmidt syndrome, the individual conditions present are treated. Addison’s disease is treated with lifelong substitution of glucocorticoids and mineral corticoids. The substitution of cortisol should be performed according to the circadian rhythm. The cortisol dose is higher in the morning than in the evening. In case of physical stress, the dose must be adjusted accordingly. The hormone aldosterone is replaced by the cortisol derivative fludrocortisone. It exhibits the same mineral corticoid effect as aldosterone. The therapy of Hashimoto’s thyroiditis aims at normalizing the thyroid hormone level in the blood. For this purpose, patients receive L-thyroxine. In some cases, taking selenium can help to lower the antibodies and thus alleviate the inflammation. If patients also have a conversion disorder from T4 to T3, therapy is given with a combination of L-thyroxine and liothyronine. In the case of pernicious anemia, vitamin B12 must be substituted directly. Since absorption in the intestine is no longer guaranteed, the vitamin cannot be administered orally. An injection is required. Alternatively, the missing intrinsic factor can be administered. This allows the cobalamin to be reabsorbed in the intestine. If patients suffer from myasthenia gravis, immunosuppressive therapy is chosen. For this purpose, the patients receive glucocorticoids and cytostatic drugs. If symptoms are severe, plasmapheresis may be required to purify the blood. Symptomatic relief is provided by acetylcholinesterase inhibitors such as pyridostigmine. White spot disease is treated conservatively with cortisone ointments, photochemotherapy, cosmetics and UV protection. Depending on the skin condition, residual skin may be bleached with hydroquinone monobenzyl ether. Alternatively, repigmentation with narrow-band UVB light is also possible.

Prevention

Because the cause of Schmidt syndrome is unknown, there are currently no effective preventive measures.

Follow-up

Schmidt syndrome is treated purely symptomatically. There is usually no follow-up care because the disease is chronic and cannot be cured.In the course of the disease, other symptoms may occur that need to be clarified. Follow-up care is provided by the specialist in internal medicine. As part of the follow-up, a personal interview is held with the patient, followed by a physical examination. If hormonal symptoms persist, blood may also be drawn to determine the cause. The patient interview is used to narrow down the symptoms and determine further drug treatment. If the patient has kept a diary of complaints or otherwise recorded the symptoms during the course of the disease, the corresponding documents should be presented to the physician. They facilitate further planning regarding the therapy of the autoimmune disease. After follow-up, regular visits to the doctor are still necessary. Schmidt’s syndrome can cause further complaints, such as circulatory disorders or dizziness, which can cause serious health complications. Therefore, close medical monitoring is necessary even beyond follow-up. The exact measures to be taken for Schmidt syndrome are best discussed with the physician in charge. If necessary, the physician can involve other specialists in the follow-up.

Here’s what you can do yourself

Schmidt syndrome results in low blood pressure. For this reason, sufferers of this disorder can take some steps to help their blood pressure and circulation. Immediately after getting up, first exercises and workouts can be done to increase blood pressure in the waking process. Hectic and stress should be generally avoided. The hands and feet can receive impulses through grasping movements, which lead to a stimulation of the breeding circulation. Consumption of caffeine-containing products can also assist in achieving relief from existing discomfort. A balanced and healthy diet will help the sufferer to minimize discomfort such as constipation or unwanted weight gain. Adequate exercise is also advised to stimulate digestion and stabilize the immune system. A diet rich in vitamins and the avoidance of harmful substances such as nicotine or alcohol also promote well-being and reduce possible complaints. In the case of concentration disorders, cognitive training and optimization of learning behavior can be helpful. Mental overload should be avoided when performing daily tasks. Learning content or the structuring of accruing obligations should be adapted to the possibilities of the person affected. Since the disease can lead to increased fatigue, rest periods and breaks should also be optimized. Sleep hygiene should be monitored and improved.