Morbidity and mortality in type B Niemann-Pick disease.

PURPOSE: The purpose of this study was to perform a systematic evaluation of morbidity and mortality in type B Niemann-Pick disease.

METHODS: A total of 103 patients with Niemann-Pick disease (49 males, 54 females, age range: 1-72 years) participated in natural history studies through Mount Sinai's International Center for Types A and B Niemann-Pick Disease between 1992 and 2012.

RESULTS: Serious morbidities included significant neurological, hepatic, and cardiac disease. Thirteen patients had some degree of neurological impairment. Nine patients had cirrhosis or liver failure requiring transplantation. Coronary artery and valvular heart disease were present in nine patients. Of note, only four patients were oxygen dependent, although progressive pulmonary disease is a well-described feature of Niemann-Pick disease. During the follow-up period, 18 deaths occurred. The median age of death was 15.5 years (range 1-72). Causes of death included pneumonia, liver failure, and hemorrhage. The majority of deaths (12 of 18) occurred in patients <21 years, yielding a mortality rate of 19% in the pediatric population.

CONCLUSION: This study demonstrates that Niemann-Pick disease is a life-threatening disorder with significant morbidity and mortality, especially in the pediatric population. The information collected in this series highlights the need for safe, effective therapy for Niemann-Pick disease.