Autoimmune polyendocrine syndrome history and symptoms

A detailed history may be helpful in the early diagnosis of the autoimmune polyendocrine syndrome (APS). Autoimmune polyendocrine syndrome patients generally have an early onset. In such cases, history from the caregivers may be obtained. An important aspect involves obtaining family history about the presence of APS in family members since APS can be transmitted in genetic mode. Patients with the autoimmune polyendocrine syndrome (APS) have varied symptoms depending on the subtype. The most common presentation of APS-1 include mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. The most common presentation of APS-2 include Addison’s disease with autoimmune thyroiditis or diabetes mellitus type 1. The most common presentation of APS 3 include autoimmune thyroiditis, diabetes mellitus type 1, pernicious anemia and/or with involvement of a non-endocrine organ.

Obtaining a detailed history is an important aspect in making a diagnosis of autoimmune polyendocrine syndrome (APS). It provides insight into the cause, precipitating factors and associated comorbid conditions. It also helps in determining the correct therapy and the prognosis. Autoimmune polyendocrine syndrome patients generally have an early onset. In such cases history from the care givers or the family members may need to be obtained. Specific areas of focus while obtaining history, are outlined below:^[1][2][3]

• Onset, duration and progression of symptoms (mucocutaneous candidiasis, hypoparathyroidism and adrenal failure)
• Any family history of similar symptoms or autoimmune polyendocrine syndrome (APS)
• History of recurrent infections (to rule out immunodeficiency)
• Associated symptoms (lethargy, fever, confusion)
• Medications
• Symptoms of other organ failure (renal failure, liver failure, adrenal failure)
• Comorbid conditions like diabetes, immunodeficiency
• Severe infections
• Any dehydration history for severe loss of fluids

Patients with autoimmune polyendocrine syndrome (APS) have varied symptoms depending upon the subtype.

APS type 1 commonly presents in infancy. The symptoms include:^{[4][5][6][7][8][9]}

• The most common symptoms of APS-1 include mucocutaneous candidiasis, hypoparathyroidism and Addison’s disease. In APS type 1, the time interval between onset of one endocrinopathy to another may take up to years or decades. This condition is also termed as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy).
  • The most common and the first presentation of APS type 1 is candidiasis (seen in children less than 5 years). These patients commonly have recurrent monilial infection. The fungal infection is mostly often limited to the oral and anal mucosa and presents with recurrent itching, soreness, painful rash in the genital area and discharge.
  • The second symptom complex is from hypoparathyroidism (seen in children younger than 10 years of age). The symptoms include tetany (hallmark of acute hypocalcemia), paresthesia, carpopedal spasms, circumoral numbness, fatigue and abdominal pain.
  • Addison’s disease generally presents in patients < 15 years of age. The common symptoms of Addison’s include weakness, fatigue, weight loss, anorexia, nausea, vomiting, diarrhea and orthostatic hypotension.
  • Other APS-1 associated diseases include autoimmune hepatitis, primary hypothyroidism, a malabsorption syndrome, vitiligo, pernicious anemia, type 1 diabetes, alopecia, primary hypogonadism, cutaneous abnormalities, pulmonary disease, ovarian failure, pericarditis, cerebellar degeneration, encephalopathy, asplenia, esophageal cancer, polyneuropathy, pure red cell aplasia and others.

APS type 2 commonly presents in infancy and adulthood. The symptoms include:^[10][11][12]

• The most common symptoms of APS-2 include Addison’s disease with autoimmune thyroiditis or diabetes mellitus type 1. Other common presentation include primary hypogonadism, myasthenia gravis and celiac disease.
  • The common symptoms of autoimmune thyroiditis and hypothyroidism are fatigue, cold intolerance, decreased sweating, hypothermia, coarse skin, weight gain, depression, emotional lability, and attention deficit.
  • Diabetes mellitus type 1 presents either as classic new onset, with persistent thirst, frequent urination, and dehydration, or as diabetic ketoacidosis, which commonly presents with abdominal pain, vomiting and flu-like symptoms.
  • Grave’s disease commonly presents with palpitations, tremor (usually fine shaking of hands), excessive sweating, heat intolerance, increased appetite, unexplained weight loss despite increased appetite, muscle weakness, insomnia and increased energy.
  • Celiac disease commonly presents with weight loss, steatorrhea, bloating, cramping, and malnutrition.

APS type 3 commonly presents in neonatal period. The symptoms include:^[13][14][15]

• The most common symptoms of APS 3 include autoimmune thyroiditis, diabetes mellitus type 1, pernicious anemia and/or with involvement of a non-endocrine organ. (A major difference between APS type 3 and other sub-types is the absence of Addison’s disease in APS type 3.)
• Patients with APS type 3 (IPEX) presents in the perinatal period or in early infancy with chronic diarrhea due to autoimmune enteropathy or diabetes mellitus.
• The symptoms of APS type 3 may wax and wane over the course of time and can be worsened by infections or vaccination.
• Other common symptoms include eczematous dermatitis, autoimmune hemolytic anemia and glomerulonephritis.

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