Hemoglobinopathies are inherited disorders of hemoglobin that alter oxygen binding capacity by affecting the production of a specific subset of globin chains or their structure.1 A lesser-known subtype, Syracuse hemoglobinopathy (SH), was first identified in 4 generations of a family in the 1970s.2 As with other disorders of hemoglobin structure, there is an inherent risk of increased cell breakdown and turnover. This case discusses the presentation of gout in a patient with a history of SH.
Case presentation
A 44-year-old man with known SH, tobacco use disorder, and shoulder osteoarthritis presented with pain and palpable nodular masses on bilateral elbows, metacarpophalangeal joints, and feet progressively over 5 years. Of note, he was initially misdiagnosed with polycythemia vera after an incidental finding of elevated hematocrit more than 10 years prior. His mother, maternal aunt, and maternal grandmother have all been treated for polycythemia vera.
On examination, there were irregular palpable masses of varying sizes, erythema, and tenderness over the second metacarpophalangeal joint of the left hand, bilateral elbows, and bilateral metatarsophalangeal joints. Laboratory studies were remarkable for 19.8 g/dL hemoglobin (reference range, 12.0-16.0 g/dL); 63.4% hematocrit (reference range, 37.0%-47.0%); 219 × 103 µL platelets (reference range, 150-450 × 103 µL); 79.3 fL mean corpuscular volume (reference range, 81.0-99.0 fL); 14 mg/dL blood urea nitrogen (reference range, 8-27 mg/dL); 1.18 mg/dL creatinine (reference range, 0.60-1.60 mg/dL); 3 mmol/h erythrocyte sedimentation rate (reference range, 0-30 mmol/h); 88 IU/L alkaline phosphatase (reference range, 34-130 IU/L); and 11.3 mg/dL uric acid (reference range, 2.4-7.9 mg/dL). Hemoglobin electrophoresis studies showed a 49% hemoglobin A1 (reference range, 95%-98%); 3.0% hemoglobin A2 (reference range, 2%-3%); 3.1% hemoglobin F (reference range, < 0.6%); and 44.9% hemoglobin Syracuse (reference range, absent). It was negative for JAK2 V617F mutation. An X-ray of the bilateral feet showed irregularity/erosion involving the medial border of the great toe metatarsal head, joint effusions, and sclerotic margins (Figure 1). A prominent plantar calcaneal spur was present (Figure 2). Synovial fluid analysis detected the presence of negatively birefringent needle-shaped urate crystals.
Per the Clinical Gout Diagnosis tool, which has a sensitivity of 97%, this patient scored high given the findings of greater than one attack of acute arthritis, mono/oligoarthritic attacks, podagra, erythema, probable tophi, and hyperuricemia. This raised the likelihood of his presentation being an acute flare of tophaceous gout.3 He was treated with colchicine and prednisone for acute exacerbation. Once the exacerbation subsided, the colchicine was discontinued, and allopurinol was added. The uric acid goal was < 6 mg/dL and was consistently maintained. Over the subsequent months, he reported mild joint pain if he stopped taking allopurinol but did not report a recurrence in disease exacerbation.