Triple A syndrome

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Triple-A syndrome (also known as Allgrove Syndrome) is a rare autosomal recessive disorder. The syndrome was discovered by Jeremy Allgrove and colleagues in 1978. Triple A stands for achalasia-addisonianism-alacrima syndrome.

Sufferers have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. Achalasia is a failure of a ring of muscle fibers, such as a sphincter, to relax. Triple-A patients have achalasia of the lower oesophageal sphincter at the cardia which delays food going to the stomach and causes dilation of the thoracic oesophagus. Managed effectively, patients can have a normal lifespan and bear children.

The syndrome is highly variable. Huebner and others said in 2000 they had mapped the syndrome to a 6 cM interval on human chromosome 12q13 near the type II keratin gene cluster.

[edit] See also

• achalasia, addisonianism, alacrima

[edit] External links

• Washington University School of Medicine
• eMedicine article