In medicine

Medicine

Medicine is the science and art of healing. It encompasses a variety of health care practices evolved to maintain and restore health by the prevention and treatment of illness....

, autoimmune polyendocrine syndromes are a heterogeneous group of rare disease

Rare disease

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...

s characterised by autoimmune activity against more than one endocrine organs, although non-endocrine organs can be affected.

There are three "autoimmune polyendocrine syndromes", and a number of other diseases which have endocrine autoimmunity as one of their features.

The syndromes

• Autoimmune polyendocrine syndrome type 1
  Autoimmune polyendocrine syndrome type 1
  Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy , or Whitaker syndrome, is a form of autoimmune polyendocrine syndrome....
  
  
• Autoimmune polyendocrine syndrome type 2
  Autoimmune polyendocrine syndrome type 2
  Autoimmune polyendocrine syndrome type 2 is a form of autoimmune polyendocrine syndrome.Autoimmune polyendocrine syndrome, type 2 is the most common form of the polyglandular failure syndromes. It is more heterogeneous and has not been linked to one gene...
  
   (Schmidt's syndrome)
• APECED Syndrome: autoimmune polyendocrinopathy (APE), candidiasis (C), and ectodermal dystrophy (ED)
• The most serious but rarest form is the X-linked
  Sex linkage
  Sex linkage is the phenotypic expression of an allele related to the chromosomal sex of the individual. This mode of inheritance is in contrast to the inheritance of traits on autosomal chromosomes, where both sexes have the same probability of inheritance...
  
   polyendocrinopathy, immunodeficiency and diarrhea
  Diarrhea
  Diarrhea , also spelled diarrhoea, is the condition of having three or more loose or liquid bowel movements per day. It is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause dehydration and...
  
  -syndrome, also called XLAAD (X-linked autoimmunity and allergic dysregulation) or IPEX (immune dysfunction, polyendocrinopathy, and enteropathy, X-linked). This is due to mutation of the FOXP3
  FOXP3
  FOXP3 is a protein involved in immune system responses. A member of the FOX protein family, FOXP3 appears to function as a master regulator in the development and function of regulatory T cells....
  
  gene on the X chromosome. Most patients develop diabetes and diarrhea as neonates and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might suffer mild disease.

Other diseases

Other diseases featuring polyendocrine autoimmunity:

• Chromosomal abnormalities (Down's syndrome) increase the risk of endocrine autoimmunity
• POEMS syndrome
  POEMS syndrome
  POEMS syndrome is a rare medical syndrome. It is defined as the combination of a plasma-cell proliferative disorder , polyneuropathy, and effects on many other organ systems. It begins in middle age – the average age at onset is 50 – and affects up to twice as many men as women...
  
   - the E is for endocrinopathy; the cause is a paraprotein
  Paraprotein
  A paraprotein is an immunoglobulin or immunoglobulin light-chain that is produced in excess by the clonal proliferation of plasma cells. Detection of paraproteins in the urine or blood is most often associated with benign MGUS , where they remain "silent", and multiple myeloma. An excess in the...
  
   excreted by a plasmacytoma or multiple myeloma
  Multiple myeloma
  Multiple myeloma , also known as plasma cell myeloma or Kahler's disease , is a cancer of plasma cells, a type of white blood cell normally responsible for the production of antibodies...
  
  ; other features are polyneuropathy
  Polyneuropathy
  Polyneuropathy is a neurological disorder that occurs when many peripheral nerves throughout the body malfunction simultaneously. It may be acute and appear without warning, or chronic and develop gradually over a longer period of time. Many polyneuropathies have both motor and sensory...
  
  , organomegaly (hepatomegaly
  Hepatomegaly
  Hepatomegaly is the condition of having an enlarged liver. It is a nonspecific medical sign having many causes, which can broadly be broken down into infection, direct toxicity, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass...
  
   and splenomegaly
  Splenomegaly
  Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant of the human abdomen. It is one of the four cardinal signs of hypersplenism, some reduction in the number of circulating blood cells affecting granulocytes, erythrocytes or platelets in any...
  
  ), M-protein (paraprotein) and skin changes.
• Several very rare disease
  Rare disease
  A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
  
  s.

Management

In principle, the component diseases are managed as usual. The challenge is to detect the possibility of any of the above syndromes, and to anticipate other manifestations. For example, in a patient with known Type 2 autoimmune polyendocrine syndrome but no features of 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...

, regular screening for antibodies

Antibody

An antibody, also known as an immunoglobulin, is a large Y-shaped protein used by the immune system to identify and neutralize foreign objects such as bacteria and viruses. The antibody recognizes a unique part of the foreign target, termed an antigen...

 against 21-hydroxylase (a feature of Addison's) may prompt early intervention and hydrocortisone replacement to prevent characteristic crises.