Progressive familial intrahepatic cholestasis (PFIC) is more than an insufferable itch.
In addition to unrelenting itching and scratching, cholestatic pruritus leads to skin damage, cutaneous mutilation, hemorrhage, scarring, and a significantly diminished quality of life.1
Even more, pruritus can cause severe sleep deprivation and exhaustion, resulting in fatigue, depression, and impaired school performance.2,3
We had to keep her covered from head to toe because if there was any bit of skin showing, she would scratch it until it bled. –Emily V.
Long term, patients with PFIC frequently show signs of growth delay, with heights and weights far below those expected for their age.1,4
Malnutrition and growth deficits are common and may be related to the impaired absorption of fat and fat‑soluble vitamins due to reduced bile acid concentrations within the gastrointestinal tract.5,6
There are drugs for patients with progressive familial intrahepatic cholestasis (PFIC) that relieve symptoms or prevent disease progression.1 With all types of PFIC, treatment aims to provide relief from pruritus, offer nutritional support, and treat complications of advanced liver disease.3 There is a need in PFIC for more novel pharmacologic treatment options that can limit the progression of liver disease and need for surgical interventions, including liver transplant.7
In 2021, an ileal bile acid transport inhibitor was approved to treat pruritus caused by PFIC.8
After her diagnosis, she was on 3 different medications for the itch and it still didn’t stop it...The itch is from deep inside their bodies. –Emily K.