New Diagnosis of G6PD Deficiency Presenting as Severe Rhabdomyolysis

Abstract

A 24-year-old African-American man presented with malaise and low back pain and was found to have acute severe rhabdomyolysis followed by acute hemolysis. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was suspected by the presence of blister cells on peripheral smear and was confirmed by a low enzyme activity assay. Our patient reported playing football, along with upper respiratory infection symptoms, prior to presentation. Extensive infectious and toxicology workup was negative; however, several inflammatory proteins were markedly elevated. We hypothesized the large inflammatory burden led to an increased reactive oxygen radical burden that overwhelmed muscle and erythrocyte reducing power. Severe rhabdomyolysis in G6PD deficiency is not a common presentation because skeletal muscles are more resistant to oxidative damage compared to red blood cells. Our case adds to the few existing reports of myolysis in the setting of G6PD deficiency.

A case of false hematuria and an unexpected diagnosis

“…7,8 G6PD is expressed in all tissues where it catalyzes the first reaction in the pentose phosphate pathway which generates reduced NADPH. 8,9 G6PD deficiency patients have decreased resistance to oxidative stress, and in presence of some triggers such as fava beans, infections and some medications and toxic substances, hemolytic reaction can occur. 3,6 WHO has classified the different G6PD variants according to the magnitude of the enzyme deficiency and the severity of hemolysis.…”

“…The laboratory evaluation carried out showed hemoglobin 10.5 g/dL [11. [5][6][7][8][9][10][11][12][13][14][15][16][17][18] [7.90-16.30]. The direct and indirect coombs test were negative.…”

Drug-induced Hemolysis in G6PD Deficiency: an Unusual Presentation of a Common Clinical Condition

“…The characteristic history and the availability of rapid diagnostic kits for detection of the enzyme deficiency have made the disease detection and management easy in the clinical setting, especially in malaria endemic areas, where the patients typically present with acute symptoms of intravascular hemolysis following culprit drug administration. Owing to the varying degrees of disease severity and the wide range of precipitating factors, the disease sometimes poses a diagnostic dilemma (3)(4)(5). Here, we report an unusual presentation of a case of drug-induced hemolysis due to G6PD deficiency in a 56-year-old patient presenting with symptoms of heart failure.…”

The Possible Role of The Glucose-6-Phosphate Dehydrogenase Enzyme Deficiency in The Polyneuropathies

“…G6PD is the most common enzymopathy and the severe form the best described red blood cell worldwide if the patient has acute haemolysis from G6PD deficiency. However, moderate form of G6PD deficient persons are asymptomatic (57). Combination of two diseases, diabetes and G6PD deficiency potential causes idiopathic sensory-motor polyneuropathy because both of these diseases are directly increase oxidative stress and change the redox potential of glutathione (26,58,59).…”