Researchers have identified the genetic cause of a rare and debilitating vascular disorder not previously explained in the medical literature. The adult-onset condition is associated with progressive and painful arterial calcification affecting the lower extremities, yet spares patients’ coronary arteries. The new disease finding was published today in the New England Journal of Medicine.
The rare arterial condition caused by calcium buildup in arteries below the waist and in the joints of patient’s hands and feet has been observed in nine individuals from three unrelated families, who are the only people known to have the disorder. The researchers refer to the condition as ACDC, or arterial calcification due to CD73 deficiency. Although symptoms of the disorder include leg and joint discomfort, medical evaluations of the patients ruled out rheumatoid arthritis or other joint-related problems. Genetic analyses performed by the NIH researchers suggested a novel disorder and pinpointed the cause of the condition as mutations, or variants, in the NT5E gene. [Read more…]