Triple A syndrome

Triple-A syndrome is rare autosomal recessive disorder. Sufferers have adrenal insufficiency, alacrima (absence of tear secretion), and achalasia. Acalasia is a failure of a ring of muscle fibers, such as a sphincter, to relax. AAA patients have achalasia of the oesophagus cardia which delays food going to the stomach and causes dilation of the thoracic oesophagus.

It is also known as Allgrove syndrome because in 1978 he and others thought AAA might be inherited. Another name is achalasia-addisonianism-alacrima syndrome.

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.

Managed effectively, patients can have a normal lifespan and bear children.