Late Gaucher Diagnosis Can Worsen Health and Quality of Life, Case Study Shows

Late Gaucher Diagnosis Can Worsen Health and Quality of Life, Case Study Shows

Late diagnosis and treatment of Gaucher’s disease, particularly when there are bone symptoms, can worsen a patient’s health and quality of life, a case study shows.

It involved  a Turkish woman whom doctors mistakenly diagnosed with brittle bone disease.

The report, “Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher’s Disease,” was published in Clinical Cases in Mineral and Bone Metabolism.

This case is significant because it shows what can happen when Gaucher’s disease is diagnosed late, the researchers said. “We wanted to present this case to raise awareness of GD’s [Gaucher disease’s] skeletal involvement and effects of late diagnosis,” they wrote.

The woman developed normally during early childhood, but at age 10 simple traumas led to her having arm and leg fractures. As an adolescent, she also experienced fatigue and  stomach pain. An examination suggested she had an enlarged stomach.

Based on her history of fractures, doctors diagnosed her with osteogenesis imperfecta, commonly known as brittle bone or glass bone disease.

Osteogenesis imperfecta is a rare disorder caused by mutations in genes involved in bone formation. Patients’ bones break from no apparent cause or due to mild trauma.

At age 34, the woman went to a hospital to obtain a health certificate. At this point, some of her movement was constrained due to the many fractures she had had. X-rays showed that she had had numerous fractures in her upper and lower extremities and progressive bone damage.

Because she also complained of shortness of breath and sleep apnea, researchers evaluated her heart as well. An echocardiography showed that her heart was pumping a low volume of blood and the right side of her heart was constricted. Doctors started her on medicine to prevent heart failure and manage cardiac and respiratory symptoms.

Examinations showed she also had a curved spine and enlarged spleen and liver. In addition, she had anti-nuclear autoantibodies (ANA) in her blood and low levels of all three main blood components — red cells, platelets, and white cells.

To try to grasp what was causing these problems, the researchers looked at a sliver of her bone marrow and did a tissue biopsy. They revealed the presence of Gaucher cells. Low levels of β-glucosidase enzyme confirmed that her health condition was Gaucher’s disease.

Doctors started her on the enzyme replacement therapy Cerezyme (imiglucerase) and bisphosphonate for her bone symptoms.

Gaucher can affect many parts of the body, and its symptoms can be non-specific, delaying its diagnosis. In this case, doctors should have realized that a combination of her bone fractures and an enlarged spleen did not fit a diagnosis of osteogenesis imperfecta, the researchers said.

They said doctors should consider Gaucher’s disease when diagnosing patients with blood abnormalities, an enlarged liver or spleen, bone problems and additional conditions, such as pulmonary hypertension.

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