Doctors at Harvard Medical School and the University of Southern California are going public to seek new cases of a mysterious, life-threatening blood disease in hopes of finding clues toward a cause and a cure.
The researchers have identified three people in the world with the syndrome, which worsens over time and causes painful fluid buildup around the kidneys, shortness of breath that can require oxygen, dilated blood vessels under the skin and spontaneous bleeding in the brain. Three more potential cases of the syndrome, dubbed TEMPI, have been previously reported in medical literature, the researchers wrote today in the New England Journal of Medicine.
“It is a bit of a mystery disease, with a strange set of seemingly unrelated symptoms,” Casey O’Connell, a University of Southern California hematologist, said in a telephone interview. “For sure” there are more patients out there with the problem, she said. “It is so esoteric that even physicians” may not realize the symptoms are related, she said.
There are about 7,000 rare diseases, defined as ailments afflicting fewer than 200,000 Americans, according to the National Organization for Rare Disorders in Washington. While modern science has led to better sub-classification of existing maladies such as cancer, “not very many” totally new disorders are discovered, said O’Connell.
The cause of the new disease is unknown, and doesn’t appear to be caused by genetics, cancer or an infection, David Sykes, a hematologist at Massachusetts General Hospital and Harvard Medical School in Boston, said in a telephone interview. It may be related to an abnormal antibody protein found in the blood of all three patients, he said.
His patient, a 52-year-old man from Memphis, Tennessee, arrived at Massachusetts General Hospital in 2008 with painful fluid buildup around a kidney and astronomically high levels of erythropoietin, also known as EPO, a hormone that stimulates red blood cell production, among other symptoms. The kidney problem soon became so severe that surgery was required to release the fluid.
When the man’s symptoms were typed into a medical database, “nothing came up. It was a blank slate,” said Sykes. “We told our patient that no one had ever seen anything like he had.”
That turned out to be wrong. After Sykes and his colleagues published details of the Memphis man’s case in the New England Journal of Medicine in 2010, doctors from USC in Los Angeles and Antwerp University Hospital in Belgium e-mailed to say they, too, had been treating patients with similar symptoms.
Doctors at USC had seen their patient, a 60-year-old woman, since 1991, never realizing there were other patients with the same cluster of problems, O’Connell said.
“The hope is now to continue to find more” cases, said Sykes. Studying tissue and blood samples from additional patients may allow researchers to pinpoint what the abnormal antibody protein is binding to and what is causing the disease.
In the meantime, symptoms of two of the patients have improved after being treated with Velcade, the multiple myeloma drug sold by Japan-based Takeda Pharmaceutical Co. and Johnson & Johnson (JNJ) of New Brunswick, New Jersey. This drug may be killing the blood cells responsible for producing the abnormal antibody, Sykes said.
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