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Family History Is Key After a Serious Gastroesophageal Event


 

DENVER, COLO. — A careful physical examination and history, with special attention to the family history, will detect most infants with gastroesophageal reflux who need an intensive work-up following an apparent life-threatening event, according to a review of 313 cases.

Apparent life-threatening events (ALTEs), which include observation of a color change, apnea, alteration in muscle tone, choking, and/or gagging, can have benign or pathologic etiologies, explained Dr. Ami Doshi at a meeting on pediatric hospital medicine, sponsored by the Academic Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine.

“The overwhelming majority of patients look great by the time they present for medical attention,” said Dr. Doshi, of the Rady Children's Hospital and Health Center in San Diego.

Nonetheless, diagnostic uncertainty leads to expensive testing and sometimes lengthy hospitalization.

“This is not just an unclear entity, but also an incredibly common one,” she said. “These patients account for 2%–3% of pediatric inpatient visits in children under 1 year old.”

There is no standardized work-up, although a number of studies have attempted to elucidate which tests and predictive factors might distinguish healthy infants who could be safely discharged after an initial hospital evaluation, and which require more intensive investigation.

One study of 59 previously healthy infants, for example, found that 14% of hospitalizations were ultimately proven necessary, and that a history of multiple ALTEs in 24 hours and age of 1 month or younger had a combined negative predictive value of 100% (Pediatrics 2007;119:679–83).

Dr. Doshi and her associates were particularly interested in the 26%–54% of children with ALTEs whose working or final diagnosis was gastroesophageal reflux (GERD).

They conducted a retrospective chart review of cases in children up to 1 year old who were admitted with such events over a 3-year period at the tertiary children's hospital, which sees 800,000 patients a year. The hospital had developed a specific billing code for ALTEs that simplified the collection of cases. Only cases with at least a 6-month follow-up were included. The average age of babies included in the analysis was 2.1 months. Nearly half were Hispanic, reflecting the hospital's catchment area. Their length of stay was 2.5 days, ranging from 1 day to 66 days. In nearly 40%, a choking episode was the reported ALTE.

Roughly one-third were transported by emergency medical professionals, and 13% required rescue breaths.

An unusual family history was present in 15%.

The discharge diagnosis was GERD or upper respiratory illness in 80% of patients—a 96.6% concordance with the working diagnosis at admission. The “overwhelming majority” of GERD patients appeared well at the time of presentation, Dr. Doshi said.

Ten patients, however, suffered an event in the hospital, including central apnea, choking, oxygen desaturation, or cyanosis. One patient had a seizure and another, viral sepsis. All of these high-risk patients were less than 2.5 months old and 6 were born prematurely. Four had a concomitant diagnosis of bronchiolitis or upper respiratory infection.

“All 10 of these patients' events were directly attributable either to their prematurity or an intercurrent illness, rather than any new, unexpected, undetected diagnosis which we simply did not pick up at the time of admission,” she said during her oral presentation at the meeting. “Also, reassuringly, none of these 10 patients came back with a recurrent apparently life-threatening event or repeat admission.”

A 6-month follow-up found that 13 of the original 313 patients did suffer a recurrent ALTE, in most cases again due to GERD. These events occurred between 2 weeks and 5 months following discharge.

Other diagnoses in children with a recurrent ALTE included pertussis in one child, seizures in three, and cardiovascular abnormalities in two.

Clues to these later diagnoses were present in the records from the earlier admission, she said, either through noted symptoms such as noisy breathing (in the cardiac patients) or family history.

The family history repeatedly emerged as an important risk factor in the study. It was predictive of both a pathological diagnosis other than GERD and a recurrent ALTE in children with a final GERD diagnosis.

An abnormal family history was considered one that included seizures, genetic disease, congenital heart disease, failure to thrive, developmental delay, sudden infant death syndrome, or infant death(s).

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