Niemann Pick disease (NPD) or acid sphingomyelinase deficiency (ASMD) is a rare lipid storage disorder. Most common symptoms are hepatosplenomegaly, failure to thrive and depending on the subtype neurological symptoms and/or dyspnea due to interstitial lung disease.
Background
Lipid profiles are often disrupted in NPD with high total cholesterol, low HDL and high LDL leading to increased risk of vascular disease. Liver enzymes can be elevated, eventually liver fibrosis and cirrhosis can occur. Supportive care is the only treatment available, but enzyme replacement therapy is currently under clinical evaluation.
With the upcoming possibility of a treatment for NPD type B, the need for biomarkers that can represent the activity and/or severity of disease has increased even more. We will write a review about the laboratory tests, function tests and imaging techniques that are being used to monitor NPD patients and the course of disease and give recommendations about validating these biomarkers to be able to use them in the evaluation of the efficacy of treatment.
Start date
Start date: 07-2018
Contact
E.C.B. Eskes, PhD Candidate
Dept of Internal Medicine, div of Endocrinology and Metabolism, F5-175
Academic Medical Center
Meibergdreef 91105 AZ Amsterdam
T 0031-20-56666791 E e.c.eskes@amc.uva.nl