Years of mild symptoms mask boy’s Gaucher disease, report shows
Case shows how early signs should prompt testing for disorder
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A boy with Gaucher disease went undiagnosed until age 15 despite showing mild symptoms of the disease from infancy, according to a case report from Poland.
The researchers said the case highlights how the condition can be difficult to recognize when its early signs are nonspecific. In the boy’s case, these included an enlarged spleen, slowed growth, persistent blood cell abnormalities, and later liver enlargement.
“GD should be considered in patients with unexplained [sleep enlargement] and persistent [blood abnormalities], even when early manifestations are mild and nonspecific,” the team wrote. “Early recognition and disease-specific diagnostic testing may reduce diagnostic delay, facilitate timely treatment initiation, and help prevent irreversible complications.”
The report, “Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up,” was published in the American Journal of Case Reports.
Gaucher disease is caused by mutations in the GBA gene, which provides the instructions for glucocerebrosidase, an enzyme that normally breaks down certain fatty molecules. When glucocerebrosidase is missing or not working properly, these fatty substances accumulate to toxic levels inside cells, causing Gaucher symptoms.
Enlarged spleen was first sign
The boy in the case report had Gaucher disease type 1, the most common form, which is marked by the absence of neurological issues. Common manifestations include an enlarged liver and spleen, low blood cell counts, impaired growth, and bone problems. Because these signs can be subtle and resemble more common conditions, diagnosis may be delayed.
The first sign of the disease was an enlarged spleen, detected during an ultrasound for recurrent colic and abdominal pain when he was 8 months old. However, no further diagnostic workup was undertaken. Over the following years, his growth slowed, with his height falling from the top of the growth charts during infancy to around the 50th percentile by age 6. His mother described weakness, delayed motor development, and night sweats.
Follow-up scans performed between 8 months and age 4 showed persistent liver and spleen enlargement, while blood tests revealed mildly low red blood cell levels (anemia) and persistently low platelet counts. The boy’s iron levels were also reduced, but iron supplementation was ineffective, and the abnormalities were interpreted as anemia of chronic disease.
Further tests at age 4 ruled out several infectious, metabolic, and liver-related conditions, but the underlying cause remained unidentified.
At age 14, the boy developed severe pain in his left leg accompanied by fever. Imaging revealed abnormalities in the femur and bone marrow, the spongy tissue inside bones where blood cells are made. A biopsy did not establish a diagnosis, although tissue samples contained immune cells with a foamy appearance, another potential clue to Gaucher disease.
The following year, additional tests for Gaucher showed undetectable glucocerebrosidase activity and elevated levels of Gaucher disease biomarkers. Genetic testing also identified two copies of a disease-causing GBA mutation, confirming the diagnosis of Gaucher disease type 1.
In retrospect, the researchers considered the episode of severe bone pain and fever to represent an acute bone crisis related to Gaucher disease.
At age 15, the patient began treatment with Cerezyme (imiglucerase), an enzyme replacement therapy (ERT) that provides a functional version of the missing enzyme to help break down this buildup. He tolerated the treatment well, and his growth rate accelerated, with his height stabilizing at higher percentiles.
Follow-up imaging scans showed progressive reductions in liver and spleen size, while the previously identified bone lesions remained stable. Blood abnormalities also improved gradually or remained stable.
At age 18, after several months of coordination between his pediatric and adult care teams, the patient transitioned to an adult rare disease center without interrupting treatment. At the latest follow-up, he remained symptom-free, with stable laboratory and imaging findings.
Because early recognition and disease-specific testing may facilitate timely treatment and help prevent complications, the researchers called for greater awareness among healthcare professionals and the inclusion of Gaucher disease in routine diagnostic pathways for patients with unexplained organ enlargement, persistent blood abnormalities, or bone problems.
The case report also “highlights the importance of a structured transition from pediatric to adult care in maintaining long-term treatment continuity,” the researchers wrote.
