MEDICAL DETECTIVES FIND THEIR FIRST NEW DISEASE:

This article is about a woman who has an excruciatingly painful disease that started when she was 25 and was diagnosed when she was 56.  The pain was in her legs and hands.  The pain was caused from calcium buildup in her blood vessels.  The deposits were so thick that the blood could hardly get through.  “Patients who have rare diseases are often abandoned by the medical community,” Dr. Gahl said. “We don’t know how to treat if we don’t have a diagnosis."  There is no reason for her to be abandoned by the only people who can help her.  However, it was discovered that the disease is caused by a mutation in a gene that prevents calcium from depositing in the blood vessels.   Cells use the gene to make extracellular adenosine, a common compound that, in this case, was needed to suppress calcification.  "Now they are working on treatments. The simplest might be to give a bisphosphonate, an osteoporosis drug. With the gene mutation and decreased levels of adenosine, patients end up with high levels of an enzyme, alkaline phosphatase, needed to make calcium deposits. Bisphosphonates bring down levels of that enzyme."