APS stands for Polyendocrine autoimmune diseases. Polyendocrine autoimmune diseases represent a heterogeneous group of autoimmune diseases in which several endocrine and non-endocrine organs can be affected simultaneously. These diseases are very rare and probably all have a genetic background. The treatment is not causal, but only symptomatic through hormone replacement of missing hormones.
What are polyendocrine autoimmune diseases?
Polyendocrine autoimmune diseases are characterized by a large number of simultaneously occurring autoimmune diseases of endocrine glands. Non-endocrine organs are often also affected. These are diseases with completely different causes.
What they all have in common is that the body’s own immune system attacks different organs of the body at the same time. If endocrine organs are damaged as a result, hormone-related secondary diseases result. The terms APS for autoimmune pluriglandular syndromes, pluriglandular insufficiencies or polyendocrine autoimmunopathies are also used synonymously with the term “ polyendocrine autoimmune diseases ”. See AbbreviationFinder for abbreviations related to APS.
The polyendocrine autoimmune diseases are divided into APS types I to IV. Type I APS is also called juvenile autoimmune syndrome because it has been present since birth. The other APS types are assigned to adult polyglandular syndromes. Type I APS is also known as APECED syndrome. Here, Addison’s disease is usually combined with hypoparathyroidism and fungal infection of the skin and muscles.
Other autoimmune diseases, such as type I diabetes, can also occur. APECED syndrome is extremely rare and has so far only been observed in Finland.
Type II APS occurs in two sub -forms, Schmidt syndrome and Schmidt-Carpender syndrome. While the two diseases Addison’s disease and autoimmune thyroid disease are combined in Schmidt syndrome, type I diabetes mellitus also occurs in Schmidt-Carpender syndrome.
Type III APS is a very rare combination of autoimmune diseases of the thyroid, pancreas, kidneys, blood, skin, vessels and muscles. Type IV APS includes autoimmune diseases that cannot be assigned to any of the other three types.
Genetic factors are suspected to be the cause of all polyendocrine autoimmune diseases. APECED syndrome is the only known syndrome caused by the mutation of a single gene. It is inherited in an autosomal recessive manner. This gene encodes the so-called AIRE protein.
The AIRE protein is a self-antigen produced by the thymus stoma cells. It is an autoimmune regulator by stimulating the production of thousands of different tissue-specific autoantigens. The autoantigens that have bound to MHCI proteins present themselves on the cell surface for attack by T cells.
Apoptosis (cell suicide) is triggered in the T cells. This results in a negative selection with the result that these autoantigens are tolerated by the immune system. If a defective AIRE protein is encoded by the gene mutation, this adaptation does not take place, so that many autoimmune diseases can develop.
The causes of the so-called Schmidt syndrome or Schmidt-Carpenter syndrome are not known. Polygenic factors are suspected. The most severe and rarest form of polyendocrine autoimmune disease is XPID. The term XPID stands for the abbreviation of the English term X -linked polyendocrinopathy, immune deficiency and diarrhea syndrome.
As the name suggests, it is a gene mutation on the X chromosome. That is why only boys are affected by the severe form. The disease is usually milder in girls because the mutated gene from the mother is compensated by a healthy gene from the father. The affected gene is the FOXP3 gene.
Symptoms, Ailments & Signs
Polyendocrine autoimmune diseases show all the symptoms that would also occur with individual autoimmune diseases. Patients with APECED syndrome suffer from the symptoms of Addison’s disease, hypoparathyroidism and mucocutaneous candidiasis. Sometimes type I diabetes can also be present.
In Addison’s disease, the adrenal cortex is destroyed. There is a lack of cortisol and a lack of aldosterone. The formation of ACTH is increased. The patient suffers from weakness, nausea, vomiting, weight loss, hypoglycaemia and disturbances in the electrolyte balance.
At the same time, hypoparathyroidism leads to calcium deficiency with numbness and paw-pawed hands. There are also digestive disorders, cataracts, headaches and sometimes dementia. Mucocutaneous candidiasis manifests itself as malabsorption, diarrhea, chronic hepatitis, patchy hair loss or pernicious anemia.
In Schmidt syndrome, Addison’s disease is mainly combined with Hashimoto’s thyroiditis. In addition to the symptoms of Addison’s syndrome, the symptoms of chronic thyroiditis also appear. The thyroid is attacked by your own immune system.
In the context of Hashimoto’s syndrome, hyperthyroidism initially develops because stored thyroid hormones are released quickly. After extensive destruction of the thyroid gland, too few thyroid hormones are produced, with the typical symptoms of hypothyroidism occurring.
The most severe form of the polyendocrine autoimmune disease, the XPID syndrome, is characterized by the combination of diabetes and severe diarrhea. The disease begins in early childhood, usually affecting boys. Death often occurs prematurely as a result of the autoimmune reactions against many internal organs.
Diagnosis & course of disease
The diagnosis of polyendocrine autoimmune diseases results from the large number of organ involvements.
Those affected suffer from a variety of symptoms and conditions. In most cases, however, there is a feeling of weakness and also vomiting or nausea. Weight loss can also occur, so that those affected can also show deficiency symptoms.
Patients also suffer from severe headaches or numbness and other sensory disorders. Furthermore, the symptoms also occur in the region of the stomach and intestines, which can lead to diarrhea or constipation. The disease-related hair loss leads to a significantly reduced aesthetics of the patient, so that in many cases those affected suffer from inferiority complexes or reduced self-esteem.
It can also lead to an underactive or overactive thyroid gland. If these symptoms are not treated, the patient usually dies. A causal treatment of the disease is not possible. With the help of replacement hormones, the symptoms can usually be reduced. However, the life expectancy of the patient is significantly reduced in most cases.
When should you go to the doctor?
Exhaustion, inner weakness and a decrease in physical performance are signs of health impairment. A doctor’s visit is necessary if the symptoms persist or increase for several weeks. A doctor should be consulted in the event of nausea, vomiting, general malaise or a feeling of illness.
If there is an unwanted weight loss, this is to be understood as a warning signal from the organism that should be followed up. Disorders of the digestive tract, persistent diarrhea, constipation and sleep disorders must be examined and treated. If the person concerned complains of headaches, impairment of memory or hormonal imbalances, a doctor is needed. If left untreated, the disorders can lead to the premature death of those affected.
Therefore, a doctor’s visit should take place in the event of persistent symptoms or a deterioration in the state of health. Unusual hair loss, sensory disturbances on the skin, or a numbness should be presented to a doctor. A pawed position of the hands is characteristic of polyendocrine autoimmune diseases. If this can be observed, a doctor should be consulted immediately.
If emotional or psychological problems develop in addition to the physical abnormalities, a doctor should also be consulted. In the event of changes in behavior, withdrawal, a depressed mood or a steadily declining sense of well-being, it is advisable to have the symptoms clarified by a doctor.
Treatment & Therapy
A causal treatment of polyendocrine autoimmune diseases is not yet possible. The main focus is placed on hormone replacement therapies. Of course, these depend on the diseases present. In Addison’s disease, for example, there is lifelong substitution with cortisol and aldosterone. In the case of hypoparathyroidism, the calcium level must be stabilized by peroral administration of calcium.
Since polyendocrine autoimmune diseases are genetic, there are no recommendations for preventive measures. If cases of multiple autoimmune diseases have already occurred in the family, the risk for the offspring can be assessed with human genetic counseling and genetic analyzes if you wish to have children.
The polyendocrine autoimmune disease cannot be cured. There is currently no appropriate therapy. Those affected must carry an emergency kit with them at all times. In addition, those affected must be careful not to lose too much weight due to nausea and vomiting, otherwise the body will develop deficiency symptoms.
Sick people have to eat light and vitamin-rich food and drink lots of liquids. Examples are water, soups or spritzers. Those affected should also make sure that the food they eat contains salt, as this binds the fluids to the body. As a result of the disease, many of those affected suffer from an inferiority complex and feel disadvantaged in life.
This can lead to a high impairment of the quality of life. In this case, it is important that those affected maintain their social environment so that there is always contact with friends and family and that help can be sought if necessary. Seeing a psychologist can also be very helpful. This can teach those affected how to live with the disease. If those affected have a desire to have children, they should undergo human genetic counseling. There it can be determined whether the children may also have the polyendocrine autoimmune disease.
You can do that yourself
The diseases summarized under this term are not curable. This means that those affected have to replace hormones throughout their lives. You would do well to make this a habit because poor compliance also worsens your health. Any emergency kits must always be carried.
In addition, patients with a polyendocrine autoimmune disease should be careful not to lose too much weight even in phases with nausea and vomiting, otherwise there is a risk of deficiency symptoms such as vitamin or mineral losses. Patients benefit from a light, vitamin-rich diet and many portions of liquid throughout the day. Water, teas, spritzers or thin soups are recommended here. Salt in food is also recommended so that the body can bind the liquid it absorbs.
The disease may make patients feel inferior or disadvantaged in life. The possibly reduced life expectancy can also be very stressful. Those affected should not shy away from seeking psychotherapeutic help.
Most polyendocrine autoimmune diseases are genetic. If the affected patients wish to have children, they should seek human genetic counseling with their partner. A genetic analysis can give an indication of whether the possible offspring will also have a polyendocrine autoimmune disease or not.