Triple A syndrome

Triple A syndrome, also called Allgrove syndrome, is an inherited condition that gets its name from three specific features: achalasia, adrenal insufficiency, and alacrima. Most people with triple A syndrome have all three of these features, although some have only two. 

Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that connects the throat to the stomach. Achalasia can lead to severe feeding difficulties, vomiting, and weight loss. Signs and symptoms of achalasia can appear at any time between the ages of 6 months and late adolescence.

Adrenal insufficiency occurs when the small hormone-producing glands on top of each kidney (adrenal glands) do not produce enough hormones. Features of adrenal insufficiency can include fatigue, loss of appetite, weight loss, low blood pressure, low blood glucose (hypoglycemia), and seizures.

The third major feature of triple A syndrome is alacrima. Tear secretion is reduced or completely absent in people with alacrima. This feature is often the first noticeable sign of triple A syndrome in affected infants.

Approximately one-third of all people with triple A syndrome also have dysfunction of the autonomic nervous system (dysautonomia). The autonomic nervous system regulates involuntary bodily processes, including digestion, blood pressure, and body temperature. People with triple A syndrome may experience abnormal sweating, changes in the production of saliva, difficulty regulating blood pressure and heart rate, unequal pupil size (anisocoria), and other problems.

Additional features of triple A syndrome can include cognitive abilities that decline over time. Affected individuals may also have muscle weakness, difficulty coordinating movements (ataxia), speech problems (dysarthria), short stature, and a small head size (microcephaly). Adults with triple A syndrome often have brittle bones that are prone to fracture (osteoporosis). Optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain, has also been found in affected individuals.

People with triple A syndrome may develop skin abnormalities, such as darkening of the skin and thickening of the outer layer of the skin (hyperkeratosis) on the palms of the hands and the soles of the feet. 

The symptoms of triple A syndrome typically develop gradually over a period of several years and can vary widely, even among members of the same family.