The similar clinical and laboratory features of primary myelofibrosis (PMF) — a disease of the liver, blood, and bone marrow — and Gaucher disease may sometimes result in a misdiagnosis of the patient, a case report shows. The report, “Gaucher Disease and Myelofibrosis: A Combined Disease or…
A new protein recently identified by researchers could be used in diagnosing patients with Gaucher disease or assessing how patients are responding to therapies, a study suggests. Chitinase-3-like 1 (CHI3L1), a protein considered a pro-inflammatory marker, was found in significantly higher levels in animal models and patients with Gaucher disease.
Researchers in Brazil identified a set of signs and symptoms of Gaucher disease to help establish a priority nursing diagnosis for the disease. This allows nurses to distinguish the rare cases of Gaucher from conditions that share some of the same features. A nursing diagnosis is a nurse’s…
People with Gaucher’s disease have mixed views about using oral substrate reduction therapies as an alternative to enzyme replacement therapies, a study reports. Some favor substrate reduction therapies, or SRTs, and some enzyme replacement therapies, or ERTs. The main concern that patients expressed about SRTs in an online survey was…
Japanese researchers analyzed brochoalveolar lavage fluid (BALF) collected from the lungs to confirm a diagnosis of perinatal lethal Gaucher disease (PLGD) in an infant who was barely two months old — leading them to conclude that BALF may be a useful tool for early diagnosis. Their report, “Bronchoalveolar lavage fluid…
A new model for predicting the risk of long-term complications in patients with type 1 Gaucher disease (GD) was designed based on a 17-year study that measured a naturally-occurring enzyme that is a marker of GD activity (chitotriosidase) before and after the start of enzyme replacement therapy (ERT). The study,…
Coenzyme Q10 (CoQ), a naturally occurring antioxidant, partially restored the function of a cell model of Gaucher disease. These artificially produced cells can be used in the future to study the disease and may lead to potential treatments, according to new research. The study, “Coenzyme Q10 partially restores…
Cerdelga (eliglustat) pills are as effective and safe as the injectable drug Cerezyme (imiglucerase) as a maintenance therapy for Gaucher disease after stabilizing patients on Cerezyme, according to the Phase 3 ENCORE clinical trial. The results of the four-year study were reported in the article, “Eliglustat Maintains Long-term Clinical Stability…