MAYWOOD, IL – 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.
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.
Loyola is the only center in Illinois to join the newly launched Rare Lung Diseases Consortium, which will spearhead 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. There are 29 U.S. and 18 international clinics in the consortium.
The consortium is interested in more than 20 rare lung diseases, and initially will study HPS and two other diseases: lymphangioleiomyomatosis (LAM) and pulmonary alveolar proteinosis (PAP).
LAM almost exclusively affects women. Symptoms of the debilitating disease include shortness of breath, chronic cough and lung collapse. As the disease progresses, many patients must go on oxygen, and some require lung transplants. LAM can cause death from respiratory failure. Loyola will participate in two new LAM clinical research projects.
Loyola University Health System has a LAM clinic that treats more than 60 LAM patients, making it the largest LAM clinic in the Midwest. “We manage the spectrum of LAM issues, ranging from minor shortness of breath to lung transplantation,” Dr. Dilling said.
PAP is characterized by the build-up of grainy material called surfactant in the alveoli (air sacs) of the lungs. This can lead to breathing problems and, in severe cases, respiratory failure. PAP can become progressively worse, remain stable or spontaneously clear in a small percentage of patients.
Loyola has the oldest and largest lung transplantation program in Illinois. Loyola has performed more than 800 lung transplants, by far the most of any center in the state. Loyola’s multidisciplinary lung transplantation team provides patient-centered care and individualized treatment plans.
For information on Loyola’s lung transplantation program, visit https://www.loyolamedicine.org/transplant/lung-transplant
For information on the Rare Disease Lung Consortium, visit https://www.rarediseasesnetwork.org/cms/rld