(RxWiki News) Researchers from the National Institutes of Health have identified a new, extremely rare vascular disease and its genetic cause.
The team has labeled the disease ACDC -- caused by a deficiency in the protein CD73 -- which bears some resemblance to rheumatoid arthritis but is a wholly new and different disease in which arteries in both the hands and feet, and in the vascular network below the waist, become calcified.
The disease previously baffled medical experts. To date, ACDC has been diagnosed in nine individuals from three unrelated families. Exactly seven additional cases in the past 100 years have borne similarities to ACDC but were not diagnosed as such.
Patients complained of cramps and pain in calves, thighs, buttocks and feet, where calcification build-up in arterial walls was discovered.
Researchers are looking to develop treatments for the progressive, painful and debilitating disease now that they have pinpointed its genetic cause.
In one of the patients, surgery to redirect blood flow to different arterial passages was conducted along with amputation of the foot.