- CASE FILE
Misdiagnosed with Partial Lipodystrophy. Diagnosed with multiple autoimmune and metabolic diseases post beginning liver failure at 21.
ABOUT THIS CASE FILE
I have been a patient of the Hospital of the University of Pennsylvania for almost 20 years diagnosed about ten years ago with partial lipodystrophy (which has now been ruled out at the University of Michigan and NIH) and a host of other illnesses including SLE, autoimmune hepatitis (with cirrhosis), and Sjögren’s syndrome(all diagnosed over the last five years), hypothyroid, metabolic syndrome, interstitial cystitis, Hashimotos, Raynaud’s, proteinurea, anemia (iron and pernicious), PCOS, NASH, just to name a few.
I was told I would not survive past my early 30’s as my liver and kidneys started to fail at an alarming rate with no known direct cause. In 2004 I had an experimental surgery( recommended by a researcher at Metro Health) to utilize a Roux en Y gastric bypass to reduce the fat in my liver as it was four times the size of normal and function was steadily decreasing, even though I did not meet the weight requirements. This has managed to reverse the cirrhosis and damage to my liver, as well as my kidneys which were also impacted, until recently. My AST and ALT have started to increase for the first time in 13 years.
My father is believed to be the gene mutation carrier and has lipid disorders, major cardiovascular disease (6 heart attacks, triple bypass) and multiple types of cancer. There are no other known relatives with autoimmune diseases. I am of Eastern European Ashkenazi Jewish decent. It is believed I have a rare gene mutation specific to my family but not confirmed.
I have tried all major medications to treat my fatigue and pain (Plaquinel, Methotrexate, Imuran, Cellcept) with no success. My quality of life is steadily declining with no future plan for treatment as all avenues have been explored. I am hopeful a diagnosis might prolong or improve the quality of my life.