The Gaucher Earlier Diagnosis Consensus (GED-C) initiative — a global project aimed at building expert consensus of the disorder’s diagnosis and management — has identified several clinical signs and factors indicative of early type 1 and type 3 Gaucher disease.
The researchers aim to use the findings as a guidance for non-expert clinicians to help identify patients who may have the condition. The goal is to reduce diagnostic delays, and prevent more severe complications.
The findings were detailed in a study, “Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative,” published in the Internal Medicine Journal.
The rarity of Gaucher disease, and the variability of its symptoms, makes its diagnosis a challenge, often leading to delays in identifying the disorder. This keeps patients from receiving appropriate and timely treatment, increasing their risk for otherwise preventable Gaucher complications, such as bone pain, liver injury, and bleeding.
Thus, early diagnosis is an important goal.
The ongoing Gaucher Earlier Diagnosis Consensus (GED-C) initiative involves a structured communication system to create global expert consensuses on Gaucher disease diagnosis and management.
For this study, a global panel of 22 physicians, with a median of 18 years working with Gaucher disease, were asked to score certain signs and symptoms of the disorder according to their importance for diagnosing the condition.
The aim was to identify patient symptoms and characteristics that were indicative of early type 1 or type 3 GD. Early disease was defined as the time before symptoms significantly affected patients’ quality of life.
Responses were grouped into similar themes and sorted into factors — or patient symptoms and characteristics — and statements, defined as challenges to the early diagnosis of Gaucher disease, and the impact of the initiative.
The expert panel then ranked the importance of these responses using a five-point scale, in which one means not important, and 5 indicates an extremely important response.
Responses ranked with a score of three or greater by more than 75% of the experts were then assessed again by the panel, using a similar five-point scale. The symptoms and characteristics ranked with an agreement score of four or more by at least 67% of the expert panel were then identified as having major importance.
The experts cited an enlarged spleen and liver, low platelet counts, bone-related manifestations, and anemia as the major signs of both type 1 and type 3 disease, the study shows.
For type 1 Gaucher disease, additional major symptoms included increased levels of the iron storage protein ferritin, and the presence of an abnormal protein known as paraprotein in the urine or blood. A family history of Gaucher disease, and an Ashkenazi-Jewish ancestry, also were identified as playing a role in type 1 disease.
In type 3, epilepsy, rounding of the upper back, and motor disturbances (including those of eye) were named as additional major patient symptoms. A family history of the disease also was seen as a major characteristic.
Lack of awareness of Gaucher disease among clinicians was the major barrier to an early diagnosis, the researchers said. The panel agreed that an early diagnosis may improve patient outcomes and quality of life, and decrease serious or irreversible late-onset complications.
The experts suggested that the unexplained presence of at least two of the identified major clinical symptoms, or the presence of one symptom and one major patient characteristic, should “raise [clinician’s] index of suspicion” and spur them to consider testing for Gaucher disease.
“Clinicians who are not specialists in GD can use this guidance to determine whether [Gaucher disease] needs to be considered in the differential diagnosis of a patient,” the researchers said.
“Facilitating early diagnosis of GD may ultimately lead to improved patient quality of life and outcomes,” the study concluded.