Triple-A syndrome

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Triple-A syndrome or AAA syndrome, also known as achalasia-addisonianism-alacrima syndrome or Allgrove syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978. The syndrome involves achalasia, addisonianism (adrenal insufficiency of primary type), and alacrima (insufficiency of tears). Alacrima is usually the earliest manifestation. It is a progressive disorder that can take years to develop the full blown clinical picture.

Video Triple-A syndrome

Presentation

Individuals affected by AAA have adrenal insufficiency/Addison's disease 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 be 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. Hypoglycemia (low blood sugar) is often mentioned as an early sign. The disorder has also been associated with mild mental retardation.

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

Maps Triple-A syndrome

Cause and genetics

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

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Diagnosis

Following features of achalasia cardia are seen. On plain x Ray an absence of fundal gas shadow, widened mediastinum and an air fluid level in mediastinum is also seen. The gold standard investigation is a 24 hours manometry of oesophagus. It shows non relaxation of lower oesophageal sphincter, increased tone of oesophageal sphincter , atonic oesophagus. Bird beak sign and rat tail sign can be appreciated on barium swallow.

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Treatment

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See also

• Achalasia
• Addisonianism
• Alacrima

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References

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External links

• Allgrove (AAA) Syndrome at eMedicine
• OMIM: 231550 Achalasia Addisonianism Alacrimia syndrome; Triple A syndrome at NIH's Office of Rare Diseases

Source of article : Wikipedia