Lymphangioleiomyomatosis
| Classification according to ICD-10 | |
|---|---|
| D48 | New formation of unsafe or unknown behavior at other and unspecified locations |
| D48.1 | Connective and other soft tissues - lymphangioleiomyomatosis |
| ICD-10 online (WHO version 2019) | |
Lymphangioleiomyomatosis ( LAM ) is a very rare lung disease that occurs almost exclusively in women. It is mostly progressive, leads to chronic oxygen deficiency and is ultimately life threatening. In the WHO classification of lung tumors , it is also referred to as micronodular pneumocyte hyperplasia ( MNPH ).
frequency
The incidence of the disease (prevalence) is not known as there are no supraregional epidemiological data. Overall, however, the disease is very rare. In Germany, the number of women suffering from LAM is estimated at around 200. In the largest epidemiological study of this disease, 243 patients in the US were registered and interviewed between 1998 and 2001. The evaluation of the data showed, among other things, an average age of 41 years at the time of diagnosis. In about 60% of cases, the onset of the disease was before menopause, that is, before the menstrual period stopped in women . The youngest patient was 18, the oldest 76 years old. So far, the disease has only been clearly proven in two male patients.
Cause and development of the disease
The cause of lymphangioleiomyomatosis is not fully understood. The sporadic form of LAM is a somatic mutation of the TSC-2 gene. In the cases associated with tuberous sclerosis, either TSC-1 on chromosome 9 or TSC-2 on chromosome 16 is mutated. In the lungs, the uncontrolled growth of smooth muscle cells increasingly destroys healthy lung tissue and thus increasingly restricts the body's oxygen uptake. These adhesions can be partially removed surgically. This increases the quality of life, but the cysts reappear.
The macroscopic finding resembles severe emphysema with enlarged alveolar septa. As a result, it becomes more and more difficult for patients with LAM to breathe and they are not physically resilient. LAM also causes angiomyolipomas of the kidneys or fibrotic tissue changes in the abdomen and enlarged lymph nodes in some of those affected . Half of all those affected develop severe symptoms such as pneumothorax (collapse of the lungs) and around 15% of women have chylothorax (accumulation of lymph fluid in the pleural space).
Classification and clinical picture
The disease comes in two different forms: on the one hand as so-called sporadic LAM, which cannot be inherited, and on the other hand as LAM, which occurs in connection with the disease tuberous sclerosis and is inheritable. The first signs of the disease, such as shortness of breath during exertion or coughing and pain in the chest, usually appear between the ages of 25 and 30. A pleural effusion can by forming exudate occur. Because lymphangioleiomyomatosis is so rare and usually begins insidiously, the symptoms often remain without a correct diagnosis or are misdiagnosed as asthma or pulmonary emphysema .
diagnosis
A clear diagnosis can be made using computer tomography or a lung biopsy . The CT radiological findings are typical and usually allow the diagnosis to be made.
therapy
The current therapy with medroxy-progesterone seems to have only a limited effect in some of the patients. The 2011 MILES study showed that the drug sirolimus (rapamycin) stabilizes lung function, reduces symptoms and improves quality of life. However, after stopping the drug, lung function continues to deteriorate. After the European Medicines Agency (EMA) recommended sirolimus for the treatment of sporadic lymphangioleiomyomatosis (S-LAM), there is currently (08/2020) approval for the treatment of patients with sporadic lymphangioleiomyomatosis with moderate lung disease or declining lung function. Many sufferers and doctors see a lung transplant as the only chance in the advanced stages of the disease , but this is only an option for younger patients in good general condition . The prognosis after a lung transplant is good. Recurrences have not yet been described.
Individual evidence
- ↑ JH Ryu et al .: The NHLBI Lymphangioleiomyomatosis Registry: Characteristics of 230 Patients at Enrollment. In: Am J Respir Crit Care Med. 2006 Jan 1; 173 (1), pp. 105-111. PMID 16210669
- ↑ MC Aubry et al.: Pulmonary lymphangioleiomyomatosis in a man. In: American journal of respiratory and critical care medicine. Volume 162, Number 2 Pt 1, August 2000, pp. 749-752, ISSN 1073-449X . PMID 10934115 .
- ↑ M. Schiavina et al: Pulmonary Lymphangioleiomyomatosis in a Karyotypically Normal Man without Tuberous Sclerosis Complex. In: American journal of respiratory and critical care medicine. Volume 176, Number 1, April 2007, pp. 96-98, ISSN 1073-449X . PMID 10934115 .
- ^ Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference .
- ↑ Illustration from RadioGraphics ( Memento of the original from September 27, 2007 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.
- ↑ Berthold Jany, Tobias Welte: Pleural effusion in adults - causes, diagnosis and therapy. In: Deutsches Ärzteblatt. Volume 116, No. 21, 2019, pp. 377-385, here: p. 379.
- ^ GF Abbott, ML Rosado-de-Christenson, AA Frazier, TJ Franks, RD Pugatch, JR Galvin: From the Archives of the AFIP: Lymphangioleiomyomatosis: Radiologic-Pathologic Correlation. In: Radiographics. 25, 2005, pp. 803-828, doi: 10.1148 / rg.253055006 .
- ↑ FX McCormack et al .: Efficacy and safety of sirolimus in lymphangioleiomyomatosis. In: The New England Journal of Medicine . Volume 364, Number 17, April 2011, pp. 1595-1606, ISSN 1533-4406 . doi: 10.1056 / NEJMoa1100391 . PMID 21410393 . PMC 3118601 (free full text).
- ↑ Pfizer Europe: Product Information Rapamune 0.5 mg / 1 mg / 2 mg .
