Ultra-Rare Disease Makes Your Bones “Vanish”

(ConservativeHub.com) – If you haven’t heard about Gorham-Stout disease (GSD), you are in good company. Only about 300 known cases of this extremely rare disease exist. Medical experts first reported the disease in 1838, but it wasn’t systemically described until more than a century later, in 1955. GSD is also called “phantom bone disease” and “vanishing bone disease” and is known to be quite painful.

The Daily News chronicled the story of an unidentified 44-year-old Scottish woman who suffered the ravages of GSD for nearly two years. She started experiencing excruciating pain in her left arm, but doctors weren’t sure the exact source of her discomfort.

They conducted X-rays on her over 18 months, and they didn’t diagnose her with GSD until her ulnar and humerus bones started to disappear. Fortunately for the woman, her body eventually replaced the bones using newly grown blood vessels.

Patients suffering from GSD experience abnormal growth of lymphatic vessels and blood vessels that eventually permeate bone tissue, breaking it down, so it appears to disappear over time. Eventually, new material comprised of blood vessel tumors replaces the missing bone tissue as was the case with the Scottish woman.

There is no known treatment or cure for GSD. However, an August 25, 2020 case study detailed the successful treatment of GSD using a drug called sirolimus, or rapamycin. But so far, the drug is not in widespread use.