Gout and neurological abnormalities associated with cardiomyopathy in a young man

Article Abstract:

Purines are compounds that are important to every aspect of human function, including DNA structure, energy usage, and hormonal function. Dysfunction in the pathways which produce or recycle purines results in Lesch-Nyhan syndrome (LNS), characterized by hyperuricemia (high blood levels of uric acid), gouty arthritis, and neurological disease. LNS occurs in males, with differing degrees of severity. A case is described of a 21-year-old man who had characteristics of LNS accompanied by severe cardiomyopathy (disease of heart tissue) and a family history of hyperuricemia. The patient was seen for evaluation of dyspnea (difficulty breathing) and had a past history of gouty attacks, progressive hearing loss, intermittent double vision, and transient right-sided weakness with slurring of speech. His mother and uncle had gout and the mother also had double vision and weakness of hands and feet, which responded to steroid therapy. Further tests demonstrated the heart disease, but a specific cause could not be ascertained. The activities of enzymes that metabolize purines were close to normal levels. The patient was discharged with medications for the heart condition and gout. He developed an abnormal gait (walking pattern) and died suddenly three months after evaluation. The combination of symptoms in this patient was rather unique, allowing exclusion of a number of rare syndromes. The case resembled a number of cases reported in the literature, and most likely represented a variant of Lesch-Nyhan syndrome. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Neurologic manifestations of general diseases, Neurologic manifestations, Lesch-Nyhan syndrome

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Retinal toxicity in long term hydroxychloroquine treatment

Article Abstract:

Irreversible eye damage may be possible with long-term hydroxychloroquine treatment for rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). It may be advisable for patients taking this drug to have routine eye examinations two or three times each year. Researchers evaluated 58 patients with RA or SLE for eye damage who had taken hydroxychloroquine for more than six years and 302 patients with RA or SLE taking hydroxychloroquine for less than six years. Two of the patients taking hydroxychloroquine for more than six years (3.5%) developed irreversible damage to their retinas. These two patients had taken a total of 700 grams (g) and 730 g of the drug, respectively. None of the patients taking the drug for less than six years had any evidence of eye damage.

Complications and side effects, Drug therapy, Rheumatoid arthritis, Retinal diseases, Systemic lupus erythematosus, Hydroxychloroquine

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Hyperlipidaemia in hyperuricaemia and gout

Article Abstract:

Patients with gout should be assessed for hyperlipidemia to identify those at higher risk of atherosclerotic vascular disease. Gout is a metabolic disease characterized by elevated urate levels in the blood and can cause the deposition of urate crystals in joints. Many gout patients also have elevated blood triglycerides, increasing their risk of heart disease. Obesity can raise blood triglyceride levels and cause insulin resistance, further increasing the risk of vascular disease and heart attack.

Risk factors, Heart attack, Hyperlipidemia, Hyperuricemia

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