Rare disease day on February 28 - Lymphangioleiomyomatosis

Since 2009, the last day of February has served to raise awareness of the concerns of those with rare diseases. Rare diseases occur in less than 5 out of 10,000 people and are often life-threatening or cause chronic restrictions. According to current estimates, about 7,000 diseases are defined as rare.

Although lung diseases are among the most common diseases worldwide, the researchers at BREATH, the Hannover site of the German Center for Lung Research, are not only investigating lung diseases such as COPD and asthma but also rare lung diseases. One of these rare diseases is lymphangioleiomyomatosis (LAM), which almost exclusively affects women. In Germany there are currently about 200 women diagnosed with this disease along with a single-digit number of men.

The diagnosis of rare diseases, e.g. LAM, presents a special challenge. The common symptoms of LAM - shortness of breath, pulmonary hyperinflation, reduced blood oxygen content - are not specific for lung diseases. Reaching the correct diagnosis for LAM may take several years. For reliably diagnosing LAM, a typical finding in lung CT showing the typical growth of smooth muscle cells, which destroys the regular lung architecture is used. A lung biopsy that used to be widely used is no longer necessary. In order to make the correct diagnosis possible, it is necessary to increase the awareness of the disease of medical specialists as well as general practitioners.

In order to be able to promptly diagnose LAM correctly, public relations work is necessary to increase awareness of LAM. Self-help groups are of particular importance. On 04. April 2018 Prof. Dr. med. Tobias Welte, Director of the Clinic for Pulmonology and Site Director at BREATH, will host his annual meeting with the Hannover Regional Group of LAM self-help e.V. Germany [1] at Hannover Medical School to answer the questions of affected women. Further information on diagnosis, therapy and current research approaches of lymphangioleiomyomatosis is offered on the online platform for patients of the Lungeninformationsdienst [2].

[1] http://www.lam-info.de/

[2]  https://www.lungeninformationsdienst.de/krankheiten/weitere-lungenerkrankungen/lymphangioleiomyomatose/index.html


Picture: LAM-Verein