Allgrove (AAA) Syndrome Treatment & Management

Updated: Mar 15, 2021
  • Author: Robert J Ferry, Jr, MD; Chief Editor: Robert P Hoffman, MD  more...
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Treatment

Medical Care

Glucocorticoid deficiency

Careful replacement of glucocorticoids in patients with known adrenal insufficiency is critical to avoid an adrenal crisis and to allow for normal growth in children. Growth must be closely monitored because overtreatment with glucocorticoids impairs linear growth. Providing stress doses of corticosteroids during illness or injury is also important.

Every patient should always wear a medical alert bracelet or necklace and carry the emergency medical information card supplied with it.

In adult patients, as well as those who have difficulty with compliance, replacing cortisone with an equipotent dose of prednisone or dexamethasone is appropriate.

Prednisone and dexamethasone are less preferred for maintenance than hydrocortisone which has balanced 1:1 effects of mineralocorticoid vs. glucocorticoid. Also, these corticosteroids are not preferred in children due to potential for growth-suppressive effects with greater potency and longer duration of action compared to hydrocortisone.

Achalasia

Achalasia is best managed with surgical correction. Monitoring patients for pulmonary complications (due to reflux and aspiration) and providing gastric acid reduction therapy in patients with symptomatic reflux after surgical intervention is important.

Alacrima

Alacrima is managed with regular application of topical lubricants and with punctal occlusion. Frequent application of topical eye lubrication is warranted, as patients with alacrima are at risk for developing severe keratopathy due to excessive ocular dehydration. Children may need to be frequently reminded to use artificial tears. Children must have an annual ophthalmologic evaluation.

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Surgical Care

Patients with Allgrove syndrome who undergo surgery must be treated with stress doses of glucocorticoids in the perioperative period.

Achalasia

The symptoms of lower esophageal sphincter spasm in patients with achalasia can be ameliorated partially with pneumatic dilatation. [24] In patients who remain symptomatic after pneumatic dilatation, an anterior cardiomyotomy (modified Heller operation) may be performed. This surgical procedure involves directly cutting the muscles of the spastic sphincter.

Patients with achalasia and patients who have undergone esophageal pneumatic dilatation or myotomy are at risk for postsurgical reflux with recurrent aspiration. [25] Standard reflux precautions (eg, elevating head of bed, careful feeding of infants) and acid reduction therapy is often warranted.

Peroral endoscopic myotomy (POEM) is an effective minimally invasive alternative to laparoscopic Heller myotomy. [22, 26, 27, 28] First introduced by Ortega in 1980, POEM is a procedure that combines the benefits of myotomy with those of an endoscopic application [29] ; the current technique was introduced in 2008. [30] A meta-analysis found that POEM efficacy for dysphagia may be similar to that of laparoscopic myotomy, but with the added benefit of a shorter hospital stay. The rates of short-term clinical success (at 1-year follow-up) have been high, from 82% to 100%. Although long-term outcomes have not been reported yet, the 2-mo, 2-year and 3-year success rates were 91.3%, 91.0% and 88.5%, respectively. [31]

Alacrima

The symptoms of alacrima improve with punctal occlusion. This procedure is only necessary when therapy with topical lubricants is unsuccessful because of poor compliance.

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Consultations

Allgrove (AAA) syndrome is multisystem disease which requires a multidisciplinary team of specialists. Endocrinologists, gastroenterologists, ophthalmologists, neurologists, developmental specialists, dentists, geneticists, and surgeons all have a role in managing patients with Allgrove syndrome.

Ophthalmologist

A Schirmer test provides a semiquantitative measure of tearing. Other ophthalmologic testing, including slit lamp examination and fluorescein staining, is helpful in identifying patients with corneal pathology secondary to poor lacrimation.

Neurologist

Neurologic tests highlight a myriad of neurologic and developmental issues. Palatopharyngeal incompetence, sensory impairment, ataxia, and muscle weakness are among the documented findings.

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Activity

In a subset of patients with autonomic disturbance, some activities may need to be limited because of problems with recurring orthostatic hypotension and diminished heart rate variability. Otherwise, no specific limitations on activity are necessary.

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Prevention

There is a 25% recurrence risk of Allgrove syndrome in future pregnancies. [14] Identification of the mutation(s) allows for prenatal diagnosis by chorionic villus sampling or amniocentesis, as well as preimplantation diagnosis. DNA confirmation in the proband also allows for early identification of currently asymptomatic siblings at risk in order to provide appropriate monitoring and treatment. [13, 14]

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