Allgrove (AAA) Syndrome Follow-up

Updated: Dec 18, 2015
  • Author: Robert J Ferry, Jr, MD; Chief Editor: Stephen Kemp, MD, PhD  more...
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Follow-up

Further Inpatient Care

Glucocorticoid replacement

Inpatient care of Allgrove (AAA) syndrome is primarily directed toward maintaining adequate glucocorticoid replacement.

Reflux precautions

Patients with achalasia and patients who have undergone esophageal pneumatic dilatation or myotomy are at risk for reflux with recurrent aspiration. Standard reflux precautions are warranted (eg, elevating head of bed, careful feeding of infants). Acid reduction therapy is often warranted.

Alacrima

Frequent application of topical eye lubrication is warranted, as patients with alacrima are at risk for developing severe keratopathy due to excessive ocular dehydration.

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Complications

Glucocorticoid therapy

Overtreatment with glucocorticoids leads to growth failure and features of Cushing syndrome. Undertreatment, particularly during illness, can lead to adrenal crisis with hypotension, hypoglycemia, and possibly death.

Achalasia

Recurrent aspiration, documented in many patients with achalasia, can lead to acute pneumonitis, choking, and death. Achalasia is also associated with chronic lung disease, as indicated through radiographic studies and pulmonary function tests.

Alacrima

Patients with reduced lacrimation are at high risk for developing keratoconjunctivitis sicca and other keratopathy associated with dehydration-induced ocular tissue damage.

Autonomic neuropathy and other neurologic disturbance

Slow neurologic deterioration occurs in many patients. This most frequently includes mild mental retardation and autonomic neuropathy but may include ataxia and muscle weakness as well.

Pediatric patients commonly show developmental delay. Determining if this impairment is a primary feature of the syndrome or simply a reflection of the episodic hypoglycemia that occurs in association with glucocorticoid deficiency is difficult.

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Prognosis

Provided the patient is effectively managed, a normal lifespan and childbirth are possible. Cases of parkinsonism, peripheral neuropathy, and seizures developing in patients have been reported. Whether these also occur in patients who received an early diagnosis and long-term effective medical and surgical management is unclear.

The primary cause of mortality is unrecognized adrenal crisis. The most frequent initial presentation is a hypoglycemic seizure secondary to glucocorticoid deficiency. Most patients have previously unrecognized alacrima at the time of presentation. This leads to severe keratopathy and corneal melting (dehydration-induced ulceration). Achalasia leading to frequent vomiting or regurgitation also commonly occurs and may lead to growth failure. Most children who are diagnosed with achalasia in the general population have isolated esophageal dysfunction and do not have any other features of Allgrove syndrome.

Although the 3 main features produce the primary morbidities associated with Allgrove syndrome, a slow neurologic deterioration occurs in many patients. This most frequently includes mild mental retardation and autonomic neuropathy but may include ataxia and muscle weakness as well.

In the pediatric population, developmental delay is common. Determining if this impairment is a primary feature of the syndrome or simply a reflection of the episodic hypoglycemia that occurs in association with glucocorticoid deficiency is difficult.

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Patient Education

Glucocorticoid therapy

Patients must be instructed on the appropriate management of stress dosing of glucocorticoids.

A medical alert bracelet or necklace that states "adrenal insufficiency" or similar language should be worn at all times.

Because of the possibility of severe stress or trauma in a situation where medical assistance is not immediately available, the patient and his or her family members should be instructed to inject hydrocortisone or dexamethasone intramuscularly in a dose appropriate for the size of the patient, typically 100 mg hydrocortisone or 2 mg dexamethasone for adolescents and adults. The injection should be given whenever the patient cannot tolerate enteral stress dosing (eg, vomiting, loss of consciousness, severe diarrhea), followed promptly by medical attention at the closest facility.

Gastroesophageal reflux

Families with an affected infant should be provided with instructions for reflux precautions for eating and sleeping. Recurrent vomiting and eating difficulties should be evaluated by a physician.

Alacrima

The importance of maintaining a regular schedule of topical ocular lubrication to prevent dehydration-induced keratopathy and opportunistic ocular infection should be emphasized to patients and their families.

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