Achalasia-addisonian syndrome

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Triple A syndrome
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OMIM 231550
DiseasesDB 32088

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Synonyms and Keywords: Triple-A syndrome; Achalasia-Addisonianism-Alacrimia syndrome; Allgrove Syndrome

Overview

Achalasia-addisonian syndrome[1] is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it.[2] Triple A stands for achalasia-addisonianism-alacrima syndrome.

Historical Perspective

Achalasia-addisonian syndrome was discovered by Jeremy Allgrove and colleagues in 1978.

Pathophysiology

Individuals affected by AAA have adrenal insufficiency due to ACTH resistance, alacrima (absence of tear secretion), and achalasia (a failure of a ring of muscle fibers, such as a sphincter, to relax) of the lower esophageal sphincter at the cardia which delays food going to the stomach and causes dilation of the thoracic esophagus. There may also signs of autonomic dysfunction with AAA, such as pupillary abnormalities, an abnormal reaction to intradermal histamine, abnormal sweating, orthostatic hypotension, and disturbances of the heart rate.[3]

Genetics

Achalasia-addisonian syndrome is associated with mutations in the AAAS gene, which encodes a protein known as ALADIN (ALacrima Achalasia aDrenal Insuffiency Neurologic disorder).[4][5] In 2000, Huebner et al. mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster.[6] Since inheritance and gene for the association is known, early diagnosis can allow genetic counseling.[7]

Associated Conditions

Natural History, Complications and Prognosis

Natural History

Achalasia-addisonian syndrome is a progressive disorder that can take years to develop the full blown clinical picture.[8]

Prognosis

The syndrome is highly variable. Managed effectively, affected individuals can have a normal lifespan and bear children.

Diagnosis

Symptoms

Physical Examination

Eye

Neurologic

Laboratory Findings

Imaging

CT

Achalasia in a patient with Allgrove syndrome
Allgrove-syndrome-001.jpg Allgrove-syndrome-002.jpg

MRI

MRI of the brain of 12 year-old boy with triple-A syndrome showing hypoplastic lacrimal glands (yellow arrows.)

See also

References

  1. Online Mendelian Inheritance in Man (OMIM) 231550
  2. Dusek, Tina; Korsic, Marta; Koehler, Katrin; Perkovic, Zdravko; Huebner, Angela; Korsic, Mirko (2006). "A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome". Hormone Research. 65: 171&ndash, 176. doi:10.1159/000092003. PMID 16543750.
  3. Brooks, B.P.; Kleta, R.; Stuart, C.; Tuchman, M.; Jeong, A.; Stergiopoulos, S.G.; Bei, T.; Bjornson, B.; Russell, L.; Chanoine, J-P.; Tsagarakis, S.; Kalsner, LR.; Stratakis, CA. (2005). "Genotype heterogeneity and clinical phenotype in triple A syndrome". Clinical Genetics. 68: 215&ndash, 221. doi:10.1111/j.1399-0004.2005.00482.x. PMID 16098009.
  4. Huebner, Angela; Kaindl, A.M.; Knobeloch, K.P.; Petzold, H.; Mann, P.; Koehler, K. (2004). "The Triple A Syndrome Is Due to Mutations in Aladin, a Novel Member of the Nuclear Pore Complex". Endocrine Research. 30: 891&ndash, 899. doi:10.1081/ERC-200044138. PMID 15666842.
  5. Salmaggi A, Zirilli L, Pantaleoni C; et al. (2008). "Late-onset triple A syndrome: a risk of overlooked or delayed diagnosis and management". Horm. Res. 70 (6): 364&ndash, 372. doi:10.1159/000161867. PMID 18953174.
  6. Huebner A, Yoon SJ, Ozkinay F; et al. (2000). "Triple A syndrome--clinical aspects and molecular genetics". Endocr. Res. 26 (4): 751&ndash, 759. doi:10.3109/07435800009048596. PMID 11196451. Unknown parameter |month= ignored (help)
  7. 7.0 7.1 Bharadia, Lalit; Kalla, Mukesh; Sharma, S K; Charan, Rohit; Gupta, J B; Khan, Firoz (2005). "Triple A Syndrome". Indian Journal of Gastroenterology. 24 (5): 218–9. PMID 16361770.
  8. 8.0 8.1 8.2 Prpic, I.; Huebner, A.; Persic, M.; Handschugg, K.; Pavletic, M. (2003). "Triple A syndrome: genotype-phenotype assessment". Clinical Genetics. 63: 414&ndash, 417.



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