Autoimmune polyendocrine syndrome history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief:

Overview

The majority of patients with [disease name] are asymptomatic. OR The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

History

Obtaining history is an important aspect in making a diagnosis of autoimmune polyendocrine syndrome (APS). It provides insight into cause, precipitating factors and associated comorbid conditions. Complete history will help determine the correct therapy and helps in determining 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 when obtaining the history, are outlined below:

• Onset, duration and progression of symptoms
• Any family history of similar symptoms or APS
• Associated symptoms(lethargy, fever, confusion)
• Medications
• Symptoms of other organ failure (renal failure, liver failure, adrenal failure)
• Co-morbid conditions like diabetes, immunodeficiency
• severe infections
• Any dehydration history for severe loss of fluids

Symptoms

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

Autoimmune polyendocrine syndrome (APS) type 1

• 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 upto 20 years.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 anal and oral mucosa.
  • 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.

History and Symptoms

Type I: fungal infections (chronic mucocutaneous candidiasis), thyroid issues (hypoparathyroidism), autoimmune adrenal insufficency, type 1 diabetes, reproductive issues (hypogonadism), anemia, malabsorption, baldness, and vitiligo

Symptoms may appear as young as five years old (specifically with candidiasis). Hypoparathyroidism commonly appears in people younger than 10 years. Autoimmune adrenal insufficency appears in people younger than 15 years.

Type II: autoimmune disease (Addison's disease), thyroid disease, type 1 diabetes, reproductive issues (hypogonadism), digestive issues (Celiac disease) and neuromuscular disease (myasthenia gravis). Type III: digestive issues (Celiac disease and gastric carcinoid tumors), reproductive issues (hypogonadism), autoimmune disorders (sarcoidosis), and rheumatoid arthritis.

History

Patients with [disease name]] may have a positive history of:

• [history finding 1]
• [history finding 2]
• [history finding 3]

Common Symptoms

Common symptoms of [disease] include:

• [symptom 1]
• [symptom 2]
• [symptom 3]

Less Common Symptoms

Less common symptoms of [disease name] include

• [symptom 1]
• [symptom 2]
• [symptom 3]