Treating diabetes, FA eases woman’s symptoms: Case report
Combination therapy lowered blood sugar, eased neurological symptoms
A combination of insulin, diabetes medications, and supplements that help cells produce energy lowered blood sugar and eased neurological symptoms for a woman with Friedreich’s ataxia and diabetes, according to a case report from India.
Researchers said the case was “the first reported instance of concurrent long-term [blood sugar] stabilization and ataxia improvement.”
The report, “Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction,” was published in JCEM Case Reports.
Friedreich’s ataxia is caused by a deficiency in frataxin, a protein essential for the functioning of mitochondria — the structures in cells responsible for producing energy. It can manifest as a range of FA symptoms, from muscle weakness and scoliosis (an abnormally curved spine) to heart problems and diabetes, which makes blood glucose (sugar) reach abnormally high levels.
Tests lead doctors to suspect FA
The 32-year-old woman in the case study had poorly controlled diabetes and was dependent on a wheelchair. The researchers had seen her three years earlier, when she came to them tired, with swollen legs and polyuria (excessive production or passage of urine).
A clinical exam showed low muscle tone, weak reflexes, and problems with sensing body position and vibration. The woman also had scoliosis and problems with coordination. Earlier clinical records showed problems with balance and an unsteady gait.
Blood tests revealed high levels of blood sugar. The woman’s pancreas produced insulin, but her body was severely resistant to it, showing that cells did not respond normally to insulin, a hormone that helps move sugar from the blood into cells in the body.
Nerve studies showed no sensory responses, consistent with polyneuropathy (damage to several nerves). Brain scans showed slight atrophy (shrinkage). The woman’s heart had a patent ductus arteriosus, a persistent opening between two blood vessels from the heart, which should have closed after birth.
The doctors suspected FA, and ordered genetic testing to confirm the diagnosis. The woman was found to carry an abnormally long repeat expansion of the GAA motif in both copies of the FXN gene, which is the chief cause of FA.
Her treatment was done in three phases. First, her oral diabetes medications (metformin and glimepiride) were stopped, and insulin was started in combination with sitagliptin, a medication that increases the release of insulin after meals. This helped lower blood sugar somewhat but caused wide fluctuations.
After the Friedreich’s ataxia diganosis, the supplements L-carnitine, coenzyme Q10, vitamin E, and several B vitamins were included to protect mitochondria and help cells produce energy. Over almost 1.5 years, this helped keep blood sugar stable. Episodes of peak high blood sugar also became less frequent.
When imeglimin, an anti-diabetic medication targeting mitochondria, became available in India, it was added at 500 mg twice daily. Over the next 19 months, blood sugar control further improved. Insulin tests indicated near-normal sensitivity to the hormone and improved response without increasing the dosage of insulin.
The woman’s neurological function also improved. Her score on the International Cooperative Ataxia Rating Scale, which measures coordination and motor function, improved from 85 points to 71 points. Motor function tasks such as spiral drawing became more accurate.
These observations suggest that medications and supplements supporting mitochondria may benefit patients with both Friedreich’s ataxia and diabetes, the team said.
While “the individual contributions of each component remain unclear,” treatment targeting mitochondria may provide “a promising interim strategy for [Friedreich’s ataxia] management, bridging the gap until gene therapies become clinically viable,” the researchers wrote.
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