Rare Diseases, Common Problems: Recognition and Management

Although a growing number of inherited metaboic diseases can be treated effectively, diagnosis often comes too late to benefit the patient. There are at least two ways, however, in which diagnosis can be made before irreversible damage occurs. First, physicians whose services are sought when a patient becomes ill could be attuned to the possibility of metabolic conditions. This is difficult when the initial symptoms, for example, vomiting or poor feeding, resemble those of common, self-limited illnesses, or when they suggest, as with respiratory distress, other categories of serious illness. Second, all infants could be screened for indicators of some of these conditions. Then the primary physician has a responsibility to determine the significance of both positive and negative results and to decide whether follow-up is needed. This study had three objectives: (1) to determine whether physicians are aware of the common problems with which inherited metabolic conditions often present; (2) to determine whether their management of common problems facilitates the early diagnosis of such conditions; and (3) to assess their evaluation of screening test results. METHODS Physicians who were participating in three continuing education programs were asked to answer, anonymously, several questions dealing with recognition and in management of geneticmetaboic diseases before they were given any instruction on the subject. The same questionnaire was distributed to the pediatric house staff at The Johns Hopkins Hospital. The tabulated results were discussed with the respondents collectively during hour-long conferences. RESULTS AND COMMENTS Classification of Respondents One hundred fifty-six physicians returned the questionnaire: 67 pediatricians (in practice, 56; full-time faculty, 6: unknown, 5), 30 general or family practitioners, and 59 pediatric house officers.