Mystery Diagnosis (OWN) – Hermansky Pudlak Syndrome – Part 1 of 2 – “The Girl with No Bowel”

Part 1 of 2 of HPS Mystery Diagnosis (Uncut Version). First broadcast on the Discovery Health Channel on August 16, 2010. Now it is a part of OWN (Oprah Winfrey Network).

This Mystery Diagnosis episode is about Hermansky Pudlak Syndrome. Mystery Diagnosis is a wonderful program on the Discovery Health channel – new episodes are shown on Monday nights at 10PM EST, but you can catch many older episodes during the week at various times…. and they sometimes pop up on Discovery and TLC.

What is HPS?

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.


HPS is described by five major characteristics which may include albinism, platelet dysfunction, inflammatory bowel disease, and pulmonary fibrosis.

Diagnosing HPS

The current diagnosis for HPS involves a simple non standard blood test.

Standard of Care

At the moment there is no one particular treatment for HPS.

You can get informtion about HPS at…

www dot hpsnetwork dot org

And Thank You to the Mystery Diagnosis crew for their hard work, and special thanks to those who dedicated their time and hours to make this show possible. And Special Thanks to the Discovery Health Channel for this wonderful show.