Hermansky-Pudlak syndrome can cause debilitating lung disease in Puerto Ricans

A hereditary condition called Hermansky-Pudlak syndrome (HPS) can cause bleeding problems, low vision, albinism and, in some patients, a debilitating lung disease.

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. Puerto Ricans who have HPS are believed to have descended from a single founding patient.

Loyola University Medical Center and Loyola University Chicago are participating in a nationwide study of how the disease develops in patients over time.

A severe type of HPS causes a buildup of scar tissue in the lungs called pulmonary fibrosis. Breathing becomes 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. This type of HPS typically is fatal within 10 years of diagnosis.

Loyola pulmonologist Daniel Dilling, MD, said the course of the disease varies among patients. Some patients eventually need a lung transplant. The operation is especially challenging in HPS patients, because 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, he said. Dr. Dilling is an associate professor in the Division of Pulmonary and Critical Care Medicine of Loyola University Chicago Stritch School of Medicine.