Autoimmune polyendocrine syndrome type 2
| Autoimmune polyendocrine syndrome type 2 | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E31.0 |
| ICD-9-CM | 258.1 |
| OMIM | 269200 |
| DiseasesDB | 29690 |
| eMedicine | med/1868 |
| MeSH | D016884 |
Autoimmune polyendocrine syndrome type 2, a form of autoimmune polyendocrine syndrome also known as Schmidt's syndrome,[1] or APS-II, is the most common form of the polyglandular failure syndromes.[2] 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).[2]
Features of this syndrome are:
- Addison's disease[3]
- 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[4] 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
- ↑ Heuss D, Engelhardt A, Göbel H, Neundörfer B (June 1995). "Myopathological findings in interstitial myositis in type II polyendocrine autoimmune syndrome (Schmidt's syndrome)". Neurol. Res. 17 (3): 233–7. PMID 7643982.
- 1 2 Greenspan, Francis S.; Gardner, David C. (2004). Basic clinical endocrinology. New York: McGraw-Hill. p. 103. ISBN 0-07-140297-7.
- ↑ Betterle C, Zanchetta R (April 2003). "Update on autoimmune polyendocrine syndromes (APS)". Acta Biomed. 74 (1): 9–33. PMID 12817789.
- ↑ de Carmo Silva R, Kater CE, Dib SA, et al. (February 2000). "Autoantibodies against recombinant human steroidogenic enzymes 21-hydroxylase, side-chain cleavage and 17alpha-hydroxylase in Addison's disease and autoimmune polyendocrine syndrome type III". Eur. J. Endocrinol. 142 (2): 187–94. doi:10.1530/eje.0.1420187. PMID 10664529. Retrieved 2008-07-25.