General Information About Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome (HPS) is a rare disease that is hallmarked by albinism, vision impairment and a bleeding disorder.  This bleeding problem comes from the genetic malformation of platelets seen best under an electron microscope.  Normal platelets have dense granules embedded in their membrane serving as storage for chemicals which support the clotting cascade.  These chemicals include calcium which causes an opacity that is visible when prepared properly and are noticeably absent in platelets of individuals with HPS.  Molecular diagnosing is not available commercially in all types of HPS as yet, making the electron microscopy of platelets still a reliable screen for the disease.   Remembering that the platelet issue is a qualitative and not a quantitative problem brings out a universal dilemma of the timely diagnoses of rare diseases.  Many are misdiagnosed because rarity generates few experts.

HPS is also characterized by an inflammatory bowel disease and its most severe pathology of pulmonary fibrosis.  There are presently nine different gene types of HPS and HPS 1 and 4 universally cause pulmonary fibrosis (PF).  PF has been seen in HPS 2 as well.  This progressive and fatal lung disease occurs in individuals usually in their 30’s and 40’s though it has been seen as young as early 20’s.  HPS is very prevalent among people of Puerto Rican decent due to a Founder’s Effect.  HPS can be carried as frequently as one in 20 persons especially those from the towns in the northwest of the island.  This makes HPS an extremely prevalent genetic lung disease in this population.  Due to this incidence it can be further under-diagnosed in every other nationality where it is present though not as frequent.  Research on HPS PF can be extremely helpful in light of the fact that it can be identified in individuals prior to their symptoms.  Thus, while rare lung disorders may be difficult to diagnose correctly they add a wealth of information about biochemical pathways and disease progression making them invaluable contributors to this body of knowledge.

Working with the American Thoracic Society has been extremely beneficial providing leverage and credibility to our work.  Partnering for research allows us to engage the scientific community and encourage projects that will directly enhance the lives of our members.  Being afforded the opportunity to have the ATS review committee vet the proposals enables us to have the same quality of research as larger organizations.  We are very grateful for this opportunity as it allows us to hope for better days.