Autoimmune polyglandular syndrome

August 12, 2017 17:51 | Genetic Diseases

Autoimmune polyglandular syndrome type 1 - a rare disease, which is characterized by the classic triad of symptoms: fungal skin lesions and mucous membranes, hypoparathyroidism, primary chronic adrenal insufficiency (Addison's disease).The classic triad of symptoms of the disease may be accompanied by hypoplasia of gonads, much less primary hypothyroidism and type I diabetes.Among the not endocrine diseases with autoimmune polyglandular syndrome type 1 can occur anemia, white spots on the skin, hair loss, chronic hepatitis, malabsorption syndrome, hypoplasia of tooth enamel, nail dystrophy, lack of spleen, asthma, glomerulonephritis.Autoimmune polyglandular syndrome type 1 as a whole is a rare disease is often found in the Finnish population, including Iranian Jews and Sardinians.Apparently, this is due to long-term genetic isolation of these peoples.The frequency of new cases in Finland is 1 in 25,000 people.Autoimmune polyglandular syndrome type 1 is transmitted in an autosomal recessive inheritance


The disease first manifests itself, usually in childhood, few bowl found in males.In the development of the autoimmune polyglandular syndrome type 1 observed a certain sequence of manifestations.In most cases, the first manifestation of the disease is a fungal infection of the skin and mucous membranes, growing in the first 10 years of life, often in 2 years of age.This is accompanied by mucous membranes of the mouth, genitals, as well as skin, nail ridges, nails, less common lesion of the gastrointestinal tract and respiratory tract.Most people with the disease is determined by the violation of the genus Candida fungus cellular immunity up to its complete absence.However, the body's resistance to other infectious agents remains normal.

Against fungal infections of the skin and mucous membranes in the majority of individuals with this disease develop hypoparathyroidism (decreased function of the parathyroid glands), which usually first appears in the first 10 years from the beginning of autoimmune polyglandular syndrome.The symptoms of hypoparathyroidism is a great variety.Also characteristic spasms of muscles, recurrent sensations on the skin by the type of tingling and "pins and needles" (paresthesia) and laryngeal spasm (laryngospasm), having seizures, which are often regarded as a manifestation of epilepsy.On average, two years after the start of hypoparathyroidism develop chronic adrenal insufficiency.In 75% of people with this disease, it first appears during the first nine years of the onset of the disease.Adrenal insufficiency, usually takes place in a latent form in which there is no pronounced hyperpigmentation (darkening due to excessive amounts of pigment deposition) of the skin and mucous membranes.Its first manifestation may be acute adrenal insufficiency (crisis) due to a stressful situation.Spontaneous improvement in the flow of hypoparathyroidism with the disappearance of most of its manifestations may be a sign of concomitant adrenal insufficiency.

have 10-20% of women with autoimmune polyglandular syndrome type 1 is marked hypoplasia of the ovary that develops as a result of autoimmune destruction of their (autoimmune oophoritis), t. E. The destruction under the influence of the body's own immune system as a result of violations of its functioning.Manifested autoimmune oophoritis initial lack of menstruation or after complete cessation of a normal menstrual period.In the study of the hormonal status of the detected characteristic for disease disorders hormone levels in serum.In men, the underdevelopment of gonads appears impotence and infertility.

presence of this syndrome is established on the basis of a combination of violations on the part of the endocrine system (hypoparathyroidism, adrenal insufficiency), with characteristic clinical and laboratory signs, as well as on the basis of development of a human fungal infections of the skin and mucous membranes (mucocutaneous candidiasis).Autoimmune polyglandular syndrome type 1 detected in the serum antibody against liver and pancreas cells.

Autoimmune polyglandular syndrome type 2 - the most common, but least studied variant of the disease.For the first time this syndrome was described by Schmidt in 1926. The term "autoimmune polyglandular syndrome" was first introduced in 1980 by M. Neufeld, who identified the autoimmune polyglandular syndrome type 2 as a combination of adrenal insufficiency with autoimmune thyroiditis (thyroid disease)and / or type I diabetes in the absence of hypoparathyroidism and chronic fungal infections of the skin and mucous membranes.

Currently, described a large number of diseases that can occur in the framework of the autoimmune polyglandular syndrome type 2.These include, in addition to adrenal insufficiency, autoimmune thyroiditis and type I diabetes, Graves' disease include, hypoplasia of the sex glands, rarely observed inflammation of the pituitary gland, isolated failure of its hormones.Among the not endocrine diseases with autoimmune polyglandular syndrome type 2 there are white spots on the skin, hair loss, anemia, muscle loss, celiac disease, dermatitis and other diseases.

Most autoimmune polyglandular syndrome type 2 occurs sporadically.However, the literature describes many cases of family forms in which the disease was detected in the different members of the family for several generations.This may be a combination of different diseases, meeting within the autoimmune polyglandular syndrome type 2, different members of the same family.

Autoimmune polyglandular syndrome type 2 approximately 8 times more common in women, for the first time shown on average between 20 and 50 years, with the interval between the occurrence of the individual components of the syndrome may be more than 20 years (median 7 years).In 40-50% of persons with the disease with an initial adrenal insufficiency, sooner or later develop other disease of the endocrine system.In contrast, in people suffering from an autoimmune disease of the thyroid gland in the absence of a family history of autoimmune polyglandular syndrome type 2, the risk of second-endocrine disease is relatively low.

most common form of the autoimmune polyglandular syndrome type 2 is Schmidt's syndrome: a combination of primary chronic adrenal insufficiency with autoimmune thyroid disease (Hashimoto's thyroiditis and primary hypothyroidism, rarely diffuse toxic goiter).The syndrome of Schmidt's main features are the manifestations of adrenal insufficiency.Darkening of the skin and mucous membranes may thus be poorly expressed.

Typical manifestations of adrenal insufficiency and diabetes mellitus type I (Carpenter syndrome) is to reduce the daily dose of insulin and a tendency to a decrease in blood sugar levels, combined with weight loss, various digestive disorders, blood pressure reduction.

When connecting hypothyroidism (lack of thyroid function) for type 1 diabetes over the past heavier.Instruction on the development of hypothyroidism may be unmotivated increase body mass flow against the backdrop of worsening of diabetes, a tendency to a decrease in blood sugar levels.The combination of type I diabetes and diffuse toxic goiter mutually aggravates the course of disease.At the same time there are severe course of diabetes, susceptibility to complications, which in turn can provoke an aggravation of thyroid disease.

All persons with primary adrenal insufficiency should be periodically evaluated for their development of autoimmune thyroiditis, and (or) primary hypothyroidism.It should also conduct regular examinations of children with isolated idiopathic hypoparathyroidism, and especially in combination with fungal lesions, with the aim of early detection of adrenal insufficiency.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 is necessary every few years to pass examinations by an endocrinologist.If necessary, it is carried out the definition of blood thyroid hormones, antibodies to the thyroid gland, determine the level of fasting blood sugar, blood calcium levels.Opportunities and early prenatal diagnosis of autoimmune polyglandular syndrome type 1 is much wider.

treatment of autoimmune polyglandular syndrome is conducting hormone replacement therapy with insufficient function of the endocrine glands affected.