Small study highlights delays in diagnosis in Gaucher disease patients
Nearly 25% waited 5 years or more; a third saw multiple specialists
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Most people with Gaucher disease who were followed at a single center in Turkey received a diagnosis within one year of their first symptoms, but nearly one-quarter experienced a diagnosis delay of at least five years, a small study of 34 people found.
About one-third of the participants also needed to consult two or more medical specialties before receiving a diagnosis.
The findings offer a snapshot of diagnostic challenges faced by people with Gaucher disease. Still, the researchers noted that the small sample and retrospective nature of the study limit the conclusions that can be drawn.
“Greater awareness of [Gaucher disease] among clinicians evaluating compatible clinical presentations … may facilitate earlier diagnosis and potentially reduce prolonged diagnostic pathways,” researchers wrote.
The study, “Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study,” was published in Journal of Clinical Medicine.
Early diagnosis is crucial
Gaucher disease is caused by mutations that reduce activity of glucocerebrosidase (GCase), an enzyme that normally breaks down certain fatty substances in cells. When GCase activity is insufficient, these substances build up in organs and tissues, ultimately leading to disease symptoms.
Because symptoms vary and can resemble those of other conditions, people with Gaucher may see several specialists before receiving the correct diagnosis. While treatments can help control the disease and prevent further damage, these should be started as early as possible in the disease course, before major complications develop.
Diagnostic delays can allow complications to emerge, including potentially irreversible bone damage, making early diagnosis important.
About half of patients received a diagnosis within 1 year
In this study, researchers in Turkey set out to characterize the diagnostic journey of patients with Gaucher who were followed at the adult gastroenterology department of Hacettepe University between 2014 and 2024. They reviewed the medical records of 34 people with Gaucher disease, most of whom had type 1 Gaucher disease (91.2%).
The median age at which patients first experienced symptoms was 9 years, while the median age at diagnosis was 17.5. These ages varied considerably across the group, with some patients experiencing their first symptoms and being diagnosed in infancy and others much later in life.
Among the 26 patients with available information about their initial symptoms, 22 (84.6%) had symptoms, which most commonly included digestive complaints such as abdominal pain, nausea, and vomiting. The other four (15.4%) were considered asymptomatic — one was diagnosed through family screening and two after evaluation for spleen and liver enlargement.
Among the 21 participants with available information, the median time from symptom onset to diagnosis was one year. Eleven patients (52.4%) received a diagnosis within one year, while 23.8% waited between one and five years and 23.8% waited five years or more to be diagnosed.
Notably, of the five patients with the longest diagnostic journeys, four had experienced their first symptoms before age 5, while one developed symptoms at age 31.
Most patients were diagnosed by gastroenterologists
Most patients were diagnosed by gastroenterologists — doctors specialized in gastrointestinal conditions — 42.9% in the pediatric setting and 28.6% during adulthood. However, because participants were followed at a gastroenterology center, the findings may not reflect the diagnostic experiences of the broader Gaucher population, the team noted.
Most (65.2%) had consulted one specialty before diagnosis, while about one-third had visited two or more medical specialists.
Regarding treatment, almost all patients (94.1%) received Cerezyme (imiglucerase), while one received Elelyso (taliglucerase alfa) and another received miglustat (sold as Zavesca, with generics available).
The researchers emphasized that an unexplained enlargement of the liver and spleen, particularly when accompanied by low blood cell counts, should raise suspicion of Gaucher disease. This, “together with timely use of disease-specific biochemical and molecular testing, may help shorten the diagnostic journey and reduce unnecessary diagnostic procedures,” the researchers concluded.
