Living with Glucocorticoid deficiency with achalasia
Also called triple A syndrome: an inherited condition with trouble moving food down the esophagus, low adrenal hormones, and little or no tears.
Understanding Glucocorticoid deficiency with achalasia
The three features are achalasia (trouble moving food through the esophagus), adrenal insufficiency (the adrenal glands don't make enough hormones), and alacrima (little or no tears). Most people have all three, though some have two. About one-third also have problems with the autonomic nervous system. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no tears (alacrima)
- Trouble moving food down the esophagus (achalasia)
- Low adrenal hormone levels (adrenal insufficiency)
- Feeding difficulties, vomiting, and weight loss
- Low blood pressure
- Darker skin and thickened palms and soles
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in AAAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Martin Mueller IV Achalasia Awareness Foundation, Inc and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the AAAS gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 2a syndrome; 3a syndrome; 4a syndrome; aaa syndrome; aaas; achalasia-addisonian syndrome
Patient organizations
- Martin Mueller IV Achalasia Awareness Foundation, IncGlucocorticoid deficiency with achalasia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Glucocorticoid deficiency with achalasia.
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