Simple algorithms and rapid tools such as dried blood spot assays can help speed diagnosis, avoid unnecessary biopsies, and enable more effective management of Gaucher disease (GD) type 1, according to a review study.
The review, “Finding and Treating Gaucher Disease Type 1 – The Role of the Haematologist,” was published in the journal European Oncology & Haematology.
It looks at the new tools available that can help reduce delays in diagnosis, avoid biopsies, and start early interventions in adults and children with type 1 Gaucher disease.
Early diagnosis and prompt interventions using enzyme replacement therapy (ERT, such as Cerezyme) or substrate reduction therapy (SRT, like Cerdelga or Zavesca) can reduce the risk of disease worsening in the long-term and even reverse initial signs of the disease.
Delay in diagnosis remain too high, often taking four years on average for someone to get a correct diagnosis once the first signs have appeared.
Several reasons account for diagnostic delays: the diversity in disease manifestations; expensive, time-consuming, outsourced diagnostic tests; and a general lack of awareness of rare disorders among physicians.
Because the major symptoms of the disease — spleen enlargement (splenomegaly) and low platelet counts (thrombocytopenia) — frequently appear during childhood, most patients are initially referred to hematologists or pediatricians.
However, the numbers make clear that “greater efforts are needed to raise awareness about the benefits of prompt GD diagnosis and management among non-GD experts,” researchers say.
Indeed, studies show that only 20 percent of hematologists consider Gaucher disease type 1 when trying to diagnose patients with signs of the disease.
Today, simple and rapid diagnostic tools are available that can help reduce this gap. Two promising options are diagnostic algorithms and dried blood spot (DBS) enzymatic assays that test for a deficiency in the activity of β-glucosidase — the enzyme that’s deficient in patients with Gaucher disease.
These tools have the benefit of avoiding unnecessary biopsies, and help clinicians diagnose the disease using a simpler, faster, and less expensive method.
A study done in 35 hematology outpatient units in Italy estimated the prevalence of Gaucher disease type 1 among 196 adults suspected of the condition, using a diagnostic algorithm together with β-glucosidase activity testing on dried blood spots.
Normally, 11 percent of the suspected patients seen at these units never manage to get a conclusive diagnosis using traditional diagnostic procedures.
But the study’s results suggest that combining diagnostic algorithms with dried blood spot assays facilitates the diagnosis of Gaucher disease type 1 in a simple and noninvasive way, even for physicians who are not experts in the disease. Together, the two methods enabled the diagnosis of seven patients (3.6 percent prevalence).
“Although not definitive, evidence suggests that this may lead to a reduction in the diagnostic delay, thereby enabling prompt management and subsequent improvements in both clinical outcome and quality of life.” the researchers wrote.