Gout is the most common type of inflammatory arthritis in adults, and it typically occurs in men over the age of 50. When gout presents in younger patients or in women, this should warrant consideration of secondary causes. We describe an unusual genetic cause of tophaceous gout in a young, premenopausal woman.
Case Report
In 2020, a 31-year-old Black woman presented to the hospital with the chief complaint of numbness and tingling in her hands, feet and face, and was admitted for symptomatic hypocalcemia with a calcium level of 5 mg/dL (reference range [RR]: 8.6–10.2 mg/dL) and ionized calcium of 0.59 mmol/L (RR: 1.18–1.33 mmol/L). A rheumatologist was consulted for a complaint of right knee and left ankle pain and swelling for four days.
The patient complained of a sharp, constant discomfort, 10/10 in intensity in the right knee, with difficulty walking and finding a position of comfort. Despite receiving 0.2 mg of hydromorphone, 2 mg of morphine and 1 g of acetaminophen every six hours, she had no analgesic relief. She denied any trauma or recent injury, fevers, chills, upper respiratory symptoms, abdominal discomfort or other arthralgias; however, she did note some loose stools.
Of note, the patient had been hospitalized two weeks before with a similar presentation of symptomatic hypocalcemia following a parathyroidectomy. At that time, she also had inflammatory arthritis of both ankles. No arthrocentesis was performed because she had been diagnosed with crystal-proven gout in 2016. On the previous admission, a 10-day course of 40 mg of prednisone was initiated. She had been on febuxostat since 2016, but she took this drug intermittently due to issues with diarrhea.
The patient’s pertinent past medical history included her initial presentation to our rheumatology clinic in 2012, at age 23, with bilateral foot and ankle pain. History at that time was pertinent for Bartter syndrome, diagnosed during infancy given failure to thrive and metabolic abnormalities, including metabolic alkalosis, hypomagnesemia, hypokalemia and elevated renin, with normal aldosterone levels. She had a presumed diagnosis of gout since the age of 21 based on recurrent ankle and toe pain, with inflammation and hyperuricemia; however, no joint aspirations had been performed. For these episodes, she was treated with naproxen and prednisone, with no chronic therapy.
At least one other case reports the association between gout & Gitelman syndrome.
On her initial visit in 2012, a physical exam revealed tenderness to palpation, warmth and erythema in both first metatarsophalangeal (MTP) joints. She also had tenderness to palpation over the left olecranon process with mild warmth, but no swelling. On this occasion, aspiration of the first right MTP joint and left olecranon bursa was attempted, and no crystals were identified. A laboratory evaluation demonstrated no hematologic abnormalities; however, a metabolic profile revealed a creatinine of 1.5 mg/dL (RR: 0.5–1.10 mg/dL) with a glomerular filtration rate (GFR) of 52 and, given her pediatric diagnosis of Bartter syndrome, a consultation with a nephrologist was obtained.
