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AB0155 Chronic tophaceous gout in a premenopausal patient with familial nephropathy
  1. R Guzel1,
  2. T Sarpel1,
  3. E Kozanoglu1,
  4. S Paydas2
  1. 1Physical Medicine and Rehabilitation
  2. 2Nephrology, Cukurova University Medical Faculty, Adana, Turkey

Abstract

Background Only 5% of gouty patients are women and 90% of them are postmenopausal at the time of onset.

Objectives To describe a delayed diagnosis in a young female patient with gouty arthritis and familial nephropathy, to mention about approach to allopurinol cutaneous hypersensitivity.

Methods A 35-year-old woman presented with a 8 year history of arthritis that became crippling in the last year. Initially she was misdiagnosed as acute rheumatic fever, and later she was treated as rheumatoid arthritis. She denied any usage of diuretics or alcohol. Pedigree evaluation revealed five cases of chronic renal failure in the family, some with gouty complaints. On presentation; blood pressure was 120/70 mmHg, she was Steinbrocker functional class IV. She had large, tophi over metatarsophalangeal joints and tenderness with motion of ankles, wrists and right elbow. Monosodium urate crystals were demonstrated in synovial fluid. Serum urate level was 14 mg/dl, uric acid excretion and creatinine clearance was low, being 290 mg/day and 37 mL/min respectively. Additional abnormal investigations included a haematocrit of 27.3%, urea of 30 mg/dl, ESR of 78 mm/h. Serum trigliceride and total lipid were elevated being 291 mg/dl and 1281 mg/dl respectively. On USG bilateral soft tissue swelling in the axillar region were found to be compatible with lipomatosis. Urolithiasis was not observed. With these findings and family history she was suspected to have hereditary familial hyperuricemic nephropathy.

After resolution of the acute attack with indomethacin, allopurinol treatment was started but had to be discontinued upon occurrence of widespread erythematous rash. She was hospitalised and desensitisation regime lasting 10 days was commenced. After desensitisation, she was free of symptoms with 300 mg/day allopurinol and 0.5 mg/day colchicine. Four months later, she developed oral ulcers. Since there was a doubtful genital ulcer history she was examined for Behçet’s disease. Pathergy test was negative and unexpectedly she was HLA B27 positive but no other signs suggesting spondyloartropathy was present. Oral ulcers disappeared after allopurinol dosage has been lowered to 150 mg/day, the rash or ulcers has not recurred. The tophii were dissolved, renal functions and blood pressure have not deteriorated over time, there has been dramatic improvement of her symptoms with normalisation of serum urate levels, she is now Steinbrocker class II.

Conclusion Hyperuricemia or gout appearing at an early age in a female is usually associated with progressive renal failure. Early recognition of this disorder is important since allopurinol therapy may ameliorate the progression of the renal lesion. In cases of hypersensitivity to allopurinol oral desensitisation is a feasible approach.

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