Loyola Medicine is enrolling patients in the first major study of a rare, debilitating lung disease that disproportionately affects people from Puerto Rico.
The hereditary disease is called Hermansky-Pudlak syndrome (HPS). It can cause bleeding problems, low vision, albinism and in some patients, a debilitating and often fatal lung disease called pulmonary fibrosis, said Loyola Medicine pulmonologist Daniel Dilling, MD.
HPS affects fewer than 1 in 500,000 people worldwide. But it is more common in certain geographic pockets, especially Puerto Rico, where it affects 1 in 1,800 people.
Loyola is the only center in Illinois participating in a multicenter study of how HPS develops in patients over time. The first Loyola HPS patient to enroll is Jonathan Colon, 44, of Chicago, whose parents are from Puerto Rico. Puerto Ricans who have HPS are believed to have descended from a single founding patient.
Mr. Colon has pulmonary fibrosis, characterized by a buildup of scar tissue in the lungs. Pulmonary fibrosis makes breathing increasingly difficult, and in later stages patients need supplemental oxygen around the clock. Small exertions such as walking across a room can leave a patient gasping for breath. Without a lung transplant, the condition can be fatal.
The course of the disease varies among patients. Mr. Colon was diagnosed relatively early in the disease, and is taking a new drug that has slowed the progression of his pulmonary fibrosis. Dr. Dilling said Mr. Colon eventually may need a lung transplant. The operation would be challenging, because in HPS patients, blood does not coagulate normally, increasing the risk of bleeding.
Dr. Dilling said people of Puerto Rican descent who have albinism (abnormally light coloring) should be screened for HPS to ensure early treatment. Many Puerto Ricans with albinism do not know they are at risk for HPS, Dr. Dilling said.
The study is called “A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.” Its purpose is to identify the earliest evidence of pulmonary disease in individuals who are at risk for HPS pulmonary fibrosis. Researchers also hope to identify biomarkers that will help them understand the cause of HPS pulmonary fibrosis and facilitate future clinical trials. (A biomarker is a substance in the body that predicts the incidence or outcome of a disease.)
The study is funded by the National Heart, Lung and Blood Institute of the National Institutes of Health. Principal investigator of the overall study is Lisa Young, MD, of Vanderbilt University.
For 29 years, Loyola has operated the largest and most successful lung transplant program in Illinois. More than 900 lung transplants—by far the most of any center in Illinois—have been performed and Loyola’s 40 lung transplants in 2016 were more than all other programs in Illinois combined.
Loyola’s lung transplant program regularly evaluates and successfully performs transplants in patients who have been turned down by other centers in Chicago and surrounding states and consistently records outstanding outcomes.
Loyola also is the only center in Illinois to join the recently launched Rare Lung Diseases Consortium, which is spearheading cutting-edge research on HPS and other rare lung diseases.The consortium is a unique collaboration among patient groups, researchers and the National Institutes of Health. Its mission is to conduct research into new diagnostic tests and treatments, provide clinical research training and focused clinical care and educate patients, physicians, researchers and the public about rare lung diseases.
The study will enroll about 150 patients aged 12 and older who have been diagnosed with HPS. For more information about enrolling at the Loyola site, contact Josie Corral, RN, at 708-216-5744 or at firstname.lastname@example.org.