The pulmonary fibrosis of HPS is life limiting. Currently, the only treatment is lung transplant and without this life expectancy is typically between 45-
What causes the pulmonary fibrosis ?
It is not known what causes the pulmonary fibrosis of HPS but it involves inflammation of the lung tissue which results in scaring. A substance called Ceroid lipofucin tends to accumulate in the lung tissue of those who are affected. Also, there tend to be higher than expected numbers of white bloods (lymphocytes and macrophages) found in the lung tissues of those effected. However, it is not known if either of these play a role in causing the inflammation and fibrosis.
The PF of HPS is a restrictive lung disease. It affects the lungs in a number of ways that make breathing more difficult and less efficient. The lung tissues become stiffer and the fine structures become thicker. These changes limit the ability of oxygen to pass from the lungs and into the body’s bloodstream.
Above Left, Diagram showing the movement of Oxygen (O2) and Carbon dioxide (CO2) between the air sacks (Alveoli) and surrounding capillary blood vessels in lung tissue. Above Right, Model of capillary (with red blood cells inside) surrounding the thin wall of an alveolus.
What tests can doctors do to monitor pulmonary fibrosis
How well a person’s lungs are working can be measured using Pulmonary Function Tests (PFTs). The Forced Vital Capacity (or FVC) and ‘Gas Transfer factors’ (DLco or TLco) can be used to track the progression of the pulmonary fibrosis over a period of time. In the early stage the PF cannot be seen on a standard chest X-
Looking after your lungs
It is important for all persons with HPS to take reasonable steps to care for their lungs and avoid respiratory infections and environments likely to cause chest irritation. Here are some simple steps you might like to consider in addition to other precautions:
The National Institutes of Health (NIH) in the United States are currently carrying out research into the PF of HPS -
Individuals or families interested in participating in trials and research related to HPS should contact either:
Dr. William Gahl
Dr. Thomas Markello
Mr Kevin O'Brien
Information about various ‘protocols’, and the ongoing Natural History Protocol, is available through the NIH clinical trials website: www.clinicaltrials.gov
The symptoms of Pulmonary Fibrosis (PF) in HPS are shortness of breath and abnormal fatigue during exertion and exercise. It is known to occur in three types of Hermansky-
It is important that you inform your doctor of the possibility of this lung disease if you have HPS. People with HPS may develop a chronic dry cough . Many persons with HPS are initially misdiagnosed with asthma.
Organ damage may occur if oxygen levels are severely low or continue to be low and uncorrected over a long time.
Above: Picture showing the equipment used for Pulmonary Function Tests (PFT’s). Left, A Gas analyser. Right. A Barometric chamber.
The pulmonary fibrosis of Hermansky-