30-year Gaucher disease diagnosis delay leaves lasting bone damage
Case report highlights need for earlier diagnosis and treatment access
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Delays in diagnosing Gaucher disease remain a challenge, especially in regions where genetic and biomarker testing is limited, according to a recent case report. These delays can postpone treatment and lead to complications that may be difficult or impossible to reverse.
The report describes a 60-year-old woman born in Colombia and living in Venezuela with type 1 Gaucher disease who went about 30 years without a diagnosis. During that time, she had her spleen removed and her right hip replaced. She also developed extensive bone damage. Although treatment eventually helped stabilize her blood counts, the bone damage persisted.
“This case illustrates the diagnostic barriers of rare diseases in low-resource settings and reinforces the importance of early suspicion, genetic confirmation, and biomarker testing to optimize outcomes through timely disease-specific therapy,” the researchers wrote.
Gaucher disease diagnosis delays can lead to lasting complications
The case was described in the study “Diagnostic delay and complications in young adult Gaucher disease type I,” published in Discover Applied Sciences.
Gaucher disease is a rare genetic disorder caused by mutations in the GBA gene. These mutations reduce the activity of glucocerebrosidase (GCase), an enzyme that helps break down certain fatty substances inside cells.
When GCase does not work properly, these fatty substances build up in tissues and organs. This buildup causes Gaucher disease symptoms such as an enlarged spleen and liver, low blood counts, and bone problems.
Diagnosing Gaucher disease early, when symptoms first appear, is important. Treatments can reduce the buildup of fatty substances and help manage symptoms before permanent organ damage occurs.
However, “although global diagnostic delays have decreased, they remain significant,” the researchers wrote.
The researchers, based in Colombia, described a woman who was born in Colombia and later lived in Venezuela. Her symptoms began in 1990, when she was 27. She experienced pain in the upper-left side of her abdomen, fatigue, and weakness. Medical exams revealed a substantially enlarged spleen and severe thrombocytopenia, or abnormally low platelet levels. Platelets help blood clot.
Spleen removal, hip replacement precede Gaucher diagnosis
After other treatments failed, she underwent a splenectomy, or surgical removal of the spleen, which provided temporary symptom relief. At age 36, she developed right hip pain and needed a total hip replacement. In the years that followed, she was diagnosed with high blood pressure, an underactive thyroid, and osteoporosis, a condition that weakens bones and makes them more likely to break.
Gaucher disease was first suspected in 2018, but genetic testing did not confirm the diagnosis until 2020. The tests identified two disease-causing mutations in the GBA gene, consistent with type 1 Gaucher disease. Enzyme tests also showed that GCase activity was much lower than normal.
Imaging also showed widespread involvement of the bone marrow and multiple bone infarcts, or areas of bone tissue damaged by a lack of blood supply.
The woman began treatment with Cerdelga (eliglustat), an oral substrate reduction therapy that works by reducing production of the fatty substances that build up in Gaucher disease. The researchers reported increased GCase activity by 2021, along with clinical stability. By February 2023, her blood tests showed normal levels of platelets, white blood cells, and hemoglobin, the protein that carries oxygen in red blood cells.
However, imaging still showed serious bone problems, including damage to the knee joints, reduced bone density, and bone deformities awaiting surgical correction.
The authors noted that “irreversible bone damage due to years without therapy persisted.”
Earlier testing may help prevent irreversible damage
The researchers said delays in diagnosis remain a major challenge in countries where awareness of rare diseases is low and access to specialized laboratories and genetic testing is limited.
The researchers also highlighted the value of blood biomarkers, which can help doctors assess disease severity and how well treatment is working. They suggested that including these tests in diagnostic evaluations could help identify Gaucher disease earlier.
“In our patient, early biomarker testing might have allowed diagnosis decades earlier, potentially preventing irreversible skeletal sequelae,” they wrote.
The team also noted that removing the spleen, once used to manage spleen enlargement and low blood cell counts, is now generally discouraged because it can worsen liver and bone complications.
