Autoimmune polyendocrine syndrome type 2 is a form of autoimmune polyendocrine syndrome

Autoimmune polyendocrine syndrome

In medicine, autoimmune polyendocrine syndromes are a heterogeneous group of rare diseases characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected....

.

Autoimmune polyendocrine syndrome, type 2 (also known as "Schmidt's syndrome", or APS-II) is the most common form of the polyglandular failure syndromes. It is more heterogeneous and has not been linked to one gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

. Rather, patients are at a higher risk when they carry a particular human leukocyte antigen

Human leukocyte antigen

The human leukocyte antigen system is the name of the major histocompatibility complex in humans. The super locus contains a large number of genes related to immune system function in humans. This group of genes resides on chromosome 6, and encodes cell-surface antigen-presenting proteins and...

 genotype (DQ2, DQ8 and DRB1*0404). APS-II affects women to a greater degree than men (75% of cases occur in women).

Features of this syndrome are:

• Addison's disease
  Addison's disease
  Addison’s disease is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones...
  
  
• hypothyroidism
  Hypothyroidism
  Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
  
  
• diabetes mellitus
  Diabetes mellitus
  Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
  
   (type 1)
• less common associations:
  • hypogonadism
    Hypogonadism
    Hypogonadism is a medical term for decreased functional activity of the gonads. Low testosterone is caused by a decline or deficiency in gonadal production of testosterone in males...
    
    
  • vitiligo
    Vitiligo
    Vitiligo is a condition that causes depigmentation of sections of skin. It occurs when melanocytes, the cells responsible for skin pigmentation, die or are unable to function. The cause of vitiligo is unknown, but research suggests that it may arise from autoimmune, genetic, oxidative stress,...
    
    

Symptoms

Symptoms of Addison's Disease and Hashimoto's Thyroiditis include:

• Dry hair
• Nausea
• Abdominal Pain
• Frequent Urination
• Overheating
• Vomiting
• Weight and Muscle Loss
• Salt Cravings
• Anorexia and cachexia
  Cachexia
  Cachexia or wasting syndrome is loss of weight, muscle atrophy, fatigue, weakness, and significant loss of appetite in someone who is not actively trying to lose weight...
  
  
• High Pulse/Weakened Heart
• Low Blood Pressure
• Weakness
• Hypoglycemia
• Numbness in Extremities
• Migraines
• Poor Immune System Response - Lacking Natural Bodily Inflammatories

Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3 and 4), but research evidence for these distinct combinations is not convincing.