The authors of an unsettling study recently published in The Lancet concluded that thousands of people have had kidneys removed unnecessarily because doctors misdiagnosed their disease.
As interpreted in a story on ScienceDaily.com, 1 in 5 people with kidney tumors, which are common in patients with a genetic disorder known as tuberous sclerosis complex (TSC), had a kidney removed; 4 in 10 had some kind of surgical procedure. But according to the researchers, a proper diagnosis could have prompted treatment that involved neither surgery nor kidney removal.
TSC, according to the National Institutes of Health, is characterized by the growth of numerous noncancerous (benign) tumors that can occur in the skin, brain, kidneys and other organs. Sometimes they lead to significant health issues, including developmental problems.
According to ScienceDaily, TSC affects about 40,000 people in the U.S.; as many as 7 or 8 in 10 develop kidney problems because its multiple tumors compress normal renal tissue. That can lead to kidney failure, bleeding and shock.
As lead author Dr. John Bissler, a nephrologist (kidney specialist) who co-directs the Tuberous Sclerosis Clinic at Cincinnati Children’s Hospital Medical Center, told ScienceDaily, “I can’t tell you how many times I’ve heard from patients who say their doctors told them a kidney looks bad, is full of tumors, isn’t working and has to come out. But you can do studies on these patients and find out that they have normal kidney function. The kidney looks bad, but it works. Doctors are unfamiliar with tuberous sclerosis, so when they see tumors, they think it’s renal cell carcinoma [a type of kidney cancer], perform surgeries trying to help, but before long the kidney is gone. This approach is unnecessary. …”
As many as 8 in 10 TSC patients experience tumor growth on vital organs called angiomyolipomas, or AMLs. A drug called Afinitor (everolimus) can shrink them. The FDA approved everolimus last year to treat noncancerous kidney tumors that don’t require immediate surgery for patients with TSC. It had been approved previously as an antirejection drug for organ transplant patients.
Bissler’s study involved 118 TSC patients at 24 treatment centers in 11 countries. Within a few months, everolimus substantially reduced the size of angiomyolipoma tumors in more than 4 in 10 people. Tumor reduction lasted an average of more than five months.
Traditionally, treatment for AMLs was arterial embolization, which uses a catheter to block the artery and stop blood flow to the tumor. That procedure, however, also can damage healthy tissue.
Studies in the 1990s determined the cause of TSC to be two defective genes. When they malfunction, a protein in the cell triggers uncontrolled tumor cell and blood vessel growth. With the discovery, everolimus attracted interest as a treatment for TSC.
The science is evolving, and like all difficult medical disorders, there’s no single approach that works for everybody. But for people with TSC who may be facing surgery, it makes sense to seek the opinion of a specialist in this disorder, and to inquire about drug treatment.
Side effects of everolimus range from the annoying-dry mouth, dry skin-to the serious-seizures, irregular heartbeat, swelling of the lips and tongue… For a complete description of the drug’s indications and possible harms, link here.