Autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome type 1 - a rare disease characterized by a classic triad of signs: fungal lesions of the skin and mucous membranes, hypoparathyroidism, primary chronic adrenal insufficiency( addison's disease).The classical triad of signs of this disease may be accompanied by underdevelopment of the gonads, much less often primary hypothyroidism and type I diabetes mellitus. Among non-endocrine diseases, anemia, white spots on the skin, alopecia, chronic hepatitis, malabsorption syndrome, maldevelopment of the tooth enamel, nail dystrophy, absence of the spleen, bronchial asthma, glomerulonephritis can occur in non-endocrine diseases in type 1 autoimmune polyglandular syndrome. Autoimmune polyglandular syndrome type 1 as a whole is a rare pathology, often found in the Finnish population, among Iranian Jews and Sardines. Apparently, this is due to the long-term genetic isolation of these peoples. The incidence of new cases in Finland is 1 per 25 000 population. Autoimmune polyglandular syndrome of the 1st type is transmitted by autosomal recessive type of inheritance.
The disease first appears, as a rule, in childhood, somewhat more frequent in males. In the development of autoimmune polyglandular syndrome of the 1st type, a definite sequence of manifestations is observed. In most cases, the first manifestation of the disease is a fungal lesion of the skin and mucous membranes that develops in the first 10 years of life, more often at 2 years of age. In this case, there is a lesion of the mucous membranes of the oral cavity, genitals, as well as of the skin, nail ridges, nails, and less frequent lesions of the gastrointestinal tract and respiratory tract. The majority of people with this disease is determined to have a violation of the cellular immunity of the fungus of the genus Candida until its complete absence. However, the body's resistance to other infectious agents remains normal.
In the face of fungal skin and mucous membrane damage, most people with this disease develop hypoparathyroidism( parathyroid function reduction), which, as a rule, first appears in the first 10 years from the onset of autoimmune polyglandular syndrome. Signs of hypoparathyroidism are very diverse. In addition to the characteristic muscle cramps of limbs, periodically arising sensations on the skin like tingling and "goosebumps"( paresthesia) and spasm of the larynx( laryngospasm), convulsive seizures occur which are often regarded as manifestations of epilepsy. On average, two years after the onset of hypoparathyroidism, chronic adrenal insufficiency develops. In 75% of people with this disease, it first appears during the first nine years from the onset of the disease. Adrenal insufficiency, as a rule, proceeds in a latent form, in which there is no pronounced hyperpigmentation( darkening due to the deposition of an excessive amount of pigment) of the skin and mucous membranes. Its first manifestation may be acute adrenal insufficiency( crisis) against a background of a stressful situation. Spontaneous improvement in the course of hypoparathyroidism with the disappearance of most of its manifestations may serve as a sign of the development of concomitant adrenal insufficiency.
In 10-20% of women with autoimmune polyglandular syndrome type 1, ovarian underdevelopment develops as a result of autoimmune destruction( autoimmune oophoritis), i.e., destruction under the influence of their own immune system as a result of disruption of its functioning. The autoimmune oophoritis is manifested by the initial absence of menstruation or by their complete cessation after some period of the normal menstrual cycle. When studying the hormonal status, the abnormalities in serum levels of hormones characteristic of the disease are revealed. In men, underdevelopment of the sexual glands is manifested by impotence and infertility.
The presence of this syndrome is established on the basis of a combination of disorders from the endocrine system( hypoparathyroidism, adrenal insufficiency), with characteristic clinical and laboratory signs, and also on the basis of development of fungal skin and mucous membranes( mucocutaneous candidiasis) in humans. In autoimmune polyglandular syndrome type 1, serum contains antibodies against liver and pancreas cells.
Autoimmune polyglandular syndrome type 2 - the most common, but less studied variant of the disease. This syndrome was first described by M. Schmidt in 1926. The term "autoimmune polyglandular syndrome" was first introduced in 1980 by M. Neufeld, who identified autoimmune polyglandular syndrome of type 2 as a combination of adrenal insufficiency with autoimmune thyroiditis( thyroid disease)and / or Type I diabetes mellitus in the absence of hypoparathyroidism and chronic fungal infection of the skin and mucous membranes.
A large number of diseases that can occur in the autoimmune polyglandular syndrome of type 2 are described. To them, besides adrenal insufficiency, autoimmune thyroiditis and type I diabetes mellitus, diffuse toxic goiter, underdevelopment of the gonads, less frequent inflammation of the pituitary gland, isolated insufficiency of its hormones. Among non-endocrine diseases in autoimmune polyglandular syndrome of the second type, there are white spots on the skin, alopecia, anemia, muscle damage, celiac disease, dermatitis and some other diseases.
More often autoimmune polyglandular syndrome of the second type occurs sporadically. However, many cases of family forms have been described in the literature, in which the disease was detected in different members of the family in several generations. In this case, a different combination of diseases occurring within the framework of an autoimmune polyglandular syndrome of the second type can be observed in different members of the same family.
Autoimmune polyglandular syndrome type 2 is approximately 8 times more common in women, first appearing on average between 20 and 50 years, with the interval between the onset of individual components of this syndrome may be more than 20 years( an average of 7 years).In 40-50% of people with this disease with the initial adrenal insufficiency, sooner or later develops another disease of the endocrine system. In contrast, in people with autoimmune thyroid disease, in the absence of cases of autoimmune polyglandular syndrome type 2 in the family, the risk of developing a second endocrine disease is relatively low.
The most common variant of autoimmune polyglandular syndrome of the second type is Schmidt's syndrome: a combination of primary chronic adrenal insufficiency with autoimmune thyroid diseases( autoimmune thyroiditis and primary hypothyroidism, less often diffuse toxic goiter).With Schmidt's syndrome, the main signs are manifestations of adrenal insufficiency. Darkening of the skin and mucous membranes can be weakly expressed.
Typical manifestations of adrenal insufficiency against the background of type I diabetes( Carpenter syndrome) are a decrease in the daily dose of insulin and a tendency to decrease in blood sugar levels, combined with weight loss, various digestive disorders, and lowering of blood pressure.
With the addition of hypothyroidism( insufficient function of the thyroid gland) to type 1 diabetes mellitus, the course of the latter becomes heavier. Indication of the development of hypothyroidism can serve as an unmotivated increase in body weight against the background of weight gain in the course of diabetes mellitus, a tendency to lower blood sugar levels. The combination of type I diabetes mellitus and diffuse toxic goiter mutually burdens the course of diseases. In this case, there is a severe course of diabetes mellitus, a tendency to complications, which, in turn, can provoke an exacerbation of the thyroid gland.
All persons with primary adrenal insufficiency should be periodically examined for the development of autoimmune thyroiditis and( or) primary hypothyroidism. It is also necessary to regularly examine children suffering from isolated idiopathic hypoparathyroidism, and especially in combination with fungal lesions, in order to detect adrenal insufficiency in a timely manner. In addition, relatives of patients with autoimmune polyglandular syndrome type 2, as well as brothers and sisters of patients with autoimmune polyglandular syndrome type 1, have to undergo examinations every few years with an endocrinologist. If necessary, they conduct a determination of the content of thyroid hormones in the blood, antibodies to the thyroid gland, determine the level of blood sugar on an empty stomach, the level of calcium in the blood. The possibility of early and prenatal diagnosis of autoimmune polyglandular syndrome type 1 is much broader.
Treatment of autoimmune polyglandular syndrome consists in carrying out hormone replacement therapy with insufficient function of the affected endocrine glands.