Woman diagnosed with rare disease that turns bones black

MUMBAI: City doctors diagnosed a Thane resident with a rare genetic disorder called, black bone disease. The disease, doctors said, causes the patient’s urine, cartilage,

MUMBAI: City doctors diagnosed a Thane resident with a rare genetic disorder called, black bone disease. The disease, doctors said, causes the patient’s urine, cartilage, bones, liver and kidneys to tur n black. According to medical literature, the black bone disease affects approximately one in 2,50,000 people across the world.

HT Image

“The disease is caused by an enzyme deficiency which leads to abnormal protein metabolism in the body. The protein deposits are toxic and accumulate mainly in the bones, turning them black,” said Dr Shailendra Patil, orthopedic surgeon, Currae Hospital, Thane, who diagnosed Vijaya Pansare, 48, with the condition. “It leads to degeneration of bones and triggers early onset of arthritis,” he added.

Pansare said she had a lot of trouble climbing the stairs or even walking short distances. According to Pansare’s son Ajay, his mother had been complaining of pain in her knees for the last eight years.

“She has consulted at least four doctors in the last five years. But, no one could diagnose her condition,” he said.

Doctors said Pansare mentioned that her urine had a tint of black colour, which gave them the clue to investigate her for black bone disease. “The urine turns black when it is exposed to oxygen,” said Dr Patil.

Orthopaedic experts said that there are no medicines at present that can cure the disease, but symptoms such as joint pain could be treated with oral medications.

Pansare had recently undergone a knee replacement surgery as her knees were completely damaged. Her X-ray reports, however, suggest that her condition has also affected her spine. “Her X-ray shows that her spine is bent and her nerves are compressed. She has black deposits even in her spine,” said Dr Patil. He added that she is on oral medication and physiotherapy to get relief from the pain.

Speaking about the disease, Dr Harshad Argekar, an orthopaedic surgeon f rom Lokmanya Tilak Municipal General Hospital in Sion, said that he could not recall any cases of the disease having surfaced in the last five years. “We have had come cases before, but, the condition is extremely rare,” he said.