Puneet Varma (Editor)

Autoimmune polyendocrine syndrome type 2

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Specialty
  
endocrinology

ICD-9-CM
  
258.1

DiseasesDB
  
29690

ICD-10
  
E31.0

OMIM
  
269200

eMedicine
  
med/1868

Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as Schmidt's syndrome, or APS-II, is the most common form of the polyglandular failure syndromes. It is heterogeneous and has not been linked to one gene. Rather, patients are at a higher risk when they carry a particular human leukocyte antigen genotype (HLA-DQ2, HLA-DQ8 and HLA-DR4). APS-II affects women to a greater degree than men (75% of cases occur in women).

Contents

Features of this syndrome are:

  • Addison's disease
  • Primary hypothyroidism
  • Graves' disease
  • Pernicious anaemia
  • Primary hypogonadism (less common)
  • Diabetes mellitus (type 1)
  • Vitiligo (less common)
  • Coeliac disease
  • Myasthenia gravis
  • Symptoms

    Symptoms of Addison's disease and Hashimoto's thyroiditis include:

  • Dry hair
  • Nausea
  • Abdominal Pain
  • Frequent urination
  • Vomiting
  • Weight and muscle loss
  • Salt cravings / salt wasting
  • Anorexia and cachexia
  • High pulse / weakened heart
  • Low blood pressure
  • Weakness
  • Hypoglycemia
  • Numbness in extremities
  • Migraines / dysparunia
  • Poor immune system response
  • Some researchers favour splitting this syndrome into three distinct syndromes (numbering 2, 3 and 4), but evidence for these distinct combinations is not convincing.

    Eponym

    It is named for Martin Benno Schmidt (1863 – 1949), a German pathologist.

    References

    Autoimmune polyendocrine syndrome type 2 Wikipedia