Gaucher Disease Case: Ankle Pain in Young Woman

Gaucher Disease Case: Ankle Pain in Young Woman

One of the most disabling aspects of Gaucher disease (GD) is skeletal issues that leave patients often experiencing bone pain and impaired mobility. In a recent case report, researchers described a young woman with GD reporting severe ankle pain, her physical examination results, and the treatment course that doctors applied.

The report, titled “Ankle pain in a young woman with Gaucher Disease,” was published in the Cleveland Clinic  Journal of Medicine.

The patient, a 20-year old woman, was diagnosed with GD at four years old. She underwent removal of 90% of her spleen and was treated with enzyme replacement therapy with imiglucerase, until the treatment became temporarily unavailable and she developed antibodies against it. In the recent case at the clinic, she complained of ankle pain for the past 12 months and back pain for the past 2 years. The back pain was described as less severe than the ankle pain –  which had become worse over time.

Physical examination revealed the ankle was moderately swollen, but no other signs of inflammation were found. Laboratory tests showed severe anemia and thrombocytopenia (deficiency of platelets in the blood), while bone marrow biopsy revealed bone marrow disease, which is consistent with common GD complications. Radiography and magnetic resonance imaging (MRI) revealed articular problems, subtle osteopenia (the degradation of bone mass), abnormal bone marrow and bone fragmentation in the talus. Bone involvement is seen in about 75% of GD type 1 patients.

Though avascular necrosis (death of bone tissue due to a lack of blood supply) from GD typically involves the hips and shoulder, the talus was most impacted in the patient. According to the researchers, other factors such as the use of steroids as premedication for her enzyme replacement therapy, contributed to the observed bone abnormalities and deterioration.

The switch of replacement therapy from imiglucerase to taliglucerase led to steady improvements in blood counts. Platelet counts improved and hemoglobin levels as well, leading to an improvement in anemia.

Researchers concluded: “A multidisciplinary approach with regular monitoring and appropriate initiation of therapy is necessary to prevent disastrous complications in patients with Gaucher disease.”

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Margarida graduated with a BS in Health Sciences from the University of Lisbon and a MSc in Biotechnology from Instituto Superior Técnico (IST-UL). She worked as a molecular biologist research associate at a Cambridge UK-based biotech company that discovers and develops therapeutic, fully human monoclonal antibodies.

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