For US Health Care Professionals

Living With PFIC

The Burden of Disease

The symptoms and severity of progressive familial intrahepatic cholestasis (PFIC) can vary greatly from one person to another. However, no matter the subtype of PFIC, the rare disease journey can feel challenging for patients and their families.

Cholestatic pruritus is reported as a primary symptom in almost every patient at presentation (11% to 100%) and is still present at follow-up in the majority of patients (76% to 100%).1

This agonizing symptom often results in a significant reduction in quality of life.2

The Burden of Disease

Poor Quality of Life

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

Few Effective
Noninvasive Treatments

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

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.
Lack of Effective Noninvasive Treatments
PFIC=progressive familial intrahepatic cholestasis.
References: 1. Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019;43(1):20-36. doi:10.1016/j.clinre.2018.07.010 2. Düll MM, Kremer AE. Newer approaches to the management of pruritus in cholestatic liver disease. Curr Hepatol Rep. 2020;19:86-95. doi:10.1007/s11901-020-00517-x 3. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol. 2014;4(1):25-36. doi:10.1016/j.jceh.2013.10.005 4. Gunaydin M, Bozkurter Cil AT. Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment. Hepat Med. 2018;10:95-104. doi:10.2147/HMER.S137209 5. Singh SP, Pati GK. Alagille syndrome and the liver: current insights. Euroasian J Hepatogastroenterol. 2018;8(2):140-147. doi:10.5005/jp-journals-10018-1280 6. Yang CH, Perumpail BJ, Yoo ER, Ahmed A, Kerner JA Jr. Nutritional needs and support for children with chronic liver disease. Nutrients. 2017;9(10):1127. doi:10.3390/nu9101127 7. Kamath BM, Stein P, Houwen RHJ, Verkade HJ. Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. Liver Int. 2020;40(8):1812-1822. doi:10.1111/liv.14553