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Syracuse Hemoglobinopathy Presenting With Tophaceous Gout: A Case Report
1Baylor Scott & White Health, Temple, Texas.
Summary
Syracuse hemoglobinopathy, a rare inherited blood disorder, can lead to gout due to elevated uric acid. Early recognition and treatment of gout symptoms in patients with this condition are crucial for symptom management.
Area of Science:
- Hematology
- Genetics
- Rheumatology
Background:
- Hemoglobinopathies are inherited disorders affecting hemoglobin's oxygen-binding capacity.
- Syracuse hemoglobinopathy is a rare subtype characterized by high oxygen affinity hemoglobin.
- Gout is a known complication in some hemoglobinopathies, like thalassemia and hemoglobin C disorder.
Purpose of the Study:
- To report a case of Syracuse hemoglobinopathy presenting with symptoms of gout.
- To highlight the association between Syracuse hemoglobinopathy and hyperuricemia/gout.
- To emphasize the importance of considering gout in patients with hemoglobinopathy and joint pain.
Main Methods:
- Case presentation of a 44-year-old male with Syracuse hemoglobinopathy.
- Clinical evaluation including joint examination, laboratory tests (uric acid levels, synovial fluid analysis), and imaging.
- Treatment of gout with allopurinol, prednisone, and colchicine.
Main Results:
- The patient presented with joint pain and nodular masses.
- Laboratory and imaging findings indicated elevated uric acid, urate crystals, and bony erosions consistent with gout.
- Treatment resulted in symptomatic improvement.
Conclusions:
- Syracuse hemoglobinopathy can manifest with hyperuricemia and tophaceous gout.
- Clinicians should suspect gout in patients with a history of hemoglobinopathy and joint pain, especially if accompanied by elevated uric acid levels.
