Download PDF
Pneumologie 2002; 56(5): 309-315
DOI: 10.1055/s-2002-30701
Serie: Seltene Lungenerkrankungen (1)
© Georg Thieme Verlag Stuttgart · New York

Pulmonale Lymphangioleiomyomatose

Pulmonary LymphangioleiomyomatosisU.  Costabel1 , J.  Guzman1
  • 1Abteilung Pneumologie/Allergologie, Ruhrlandklinik Essen, und Allgemeine und Experimentelle Pathologie, Universität Bochum
Further Information

Publication History

Publication Date:
21 May 2002 (online)

Also available at
   Permissions and Reprints

Definition

Die Lymphangioleiomyomatose (LAM) ist eine äußerst seltene zystische Lungenerkrankung, die ausschließlich bei Frauen im gebärfähigen Alter auftritt. Dabei kommt es zu einer diffusen nicht malignen Proliferation unreifer glatter Muskelzellen, die HMB-45+ sind, in Lungen und Mediastinum, selten auch in retroperitonealen Lymphknoten. Die Prävalenz wird auf 1 : 1 000 000 geschätzt. Bei der autosomal dominant vererbten tuberösen Sklerose können bei einem Drittel der Fälle, und dann wiederum praktisch ausschließlich bei Frauen, identische Lungenveränderungen wie bei der sporadischen LAM auftreten. Alle Patientinnen mit LAM sollten daher sorgfältig auf Symptome und Befunde einer tuberösen Sklerose geprüft werden (siehe Tab. [1]).

Tab. 1 Vergleich zwischen tuberöser Sklerose und LAM Tuberöse Sklerose LAM Männer : Frauen 1 : 1 - 1 : 5 ausschließlich Frauen Epilepsie 20 - 90 % fehlt Mentale Retardierung 40 - 60 % fehlt Cerebrale Gliome >60 % sehr selten, 2 % Faziale Angiofibrome 70 - 90 % fehlen Renale Angiomyolipome 40 - 80 % 30 - 60 % Rhabdomyome des Herzens häufig im Kindesalter fehlen Unguale Fibrome 10 - 60 % fehlen Pulmonale LAM* 30 - 40 % 100 % * tritt auch bei tuberöser Sklerose praktisch ausschließlich bei Frauen auf und manifestiert sich erst im Erwachsenenalter

Literatur

  • 1 Astrinidis A, Khare L, Carsillo T. et al . Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis.  J Med Genet. 2000;  37 55-57
    PubMedGoogle Scholar
  • 2 Aubry M C, Myers J L, Ryu J H. et al . Pulmonary lymphangioleiomyomatosis in a man.  Am J Respir Crit Care Med. 2000;  162 749-752
    CrossrefPubMedGoogle Scholar
  • 3 Avila N A, Kelly J A, Chu S C. et al . Lymphangioleiomyomatosis: abdominopelvic CT and US findings.  Radiology. 2000;  216 147-153
    CrossrefPubMedGoogle Scholar
  • 4 Avila N A, Bechtle J, Dwyer A J. et al . Lymphangioleiomyomatosis: CT of diurnal variation of lymphangioleiomyomas.  Radiology. 2001;  221 415-421
    PubMedGoogle Scholar
  • 5 Basset F, Soler P, Marsac J. et al . Pulmonary lymphangiomyomatosis. Three new cases studied with electron microscopy.  Cancer. 1976;  38 2357-2366
    PubMedGoogle Scholar
  • 6 Bernstein S M, Newell J D, Adamczyk D. et al . How common are renal angiomyolipomas in patients with lymphangioleiomyomatosis?.  Am J Respir Crit Care Med. 1976;  152 2138-2143
    PubMedGoogle Scholar
  • 7 Bonelli F S, Hartman T E, Swensen S J. et al . Accuracy of high-resolution CT in diagnosing lung disease.  Am J Roentgenol. 1998;  170 1507-1512
    PubMedGoogle Scholar
  • 8 Bonetti F, Chiodera P, Pea M. et al . Transbronchial biopsy in lymphangioleiomyomatosis of the lung: HMB-45 for diagnosis.  Am J Surg Pathol. 1993;  17 1092-1102
    CrossrefPubMedGoogle Scholar
  • 9 Brentani M M, Carvalho C R, Saldiva P H. et al . Steroid receptors in pulmonary lymphangioleiomyomatosis.  Chest. 1984;  85 96-99
    PubMedGoogle Scholar
  • 10 Burrell L ST, Ross J M. A case of chylous effusion due to leiomyosarcoma.  Br J Tuberc. 1937;  31 38-39
    PubMedGoogle Scholar
  • 11 Carsillo T, Astrinidis A, Henske E P. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomytosis.  Proc Nat Acad Sci USA. 2000;  97 6085-6090
    CrossrefPubMedGoogle Scholar
  • 12 Chu S C, Horiba K, Usuki J. et al . Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis.  Chest. 1999;  115 1041-1052
    CrossrefPubMedGoogle Scholar
  • 13 Cornog J L, Enterline H T. Lymphangiomyoma, a benign lesion of chyliferous lymphatics synonymous with lymphangiopericytoma.  Cancer. 1966;  1909-1930
    PubMedGoogle Scholar
  • 14 Corrin B, Liebow A A, Friedman P J. Pulmonary lymphangiomyomatosis. A review.  Am J Pathol. 1975;  79 347-382
    PubMedGoogle Scholar
  • 15 Costello L C, Hartman T E, Ryu J H. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex.  Mayo Clin Proc. 2000;  75 591-594
    CrossrefPubMedGoogle Scholar
  • 16 Franz D N, Brody A, Meyer C. et al . Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.  Am J Respir Crit Care Med. 2001;  154 661-668
    PubMedGoogle Scholar
  • 17 Graham M L, Spelsberg T C, Dines D E. et al . Pulmonary lymphangioleiomyomatosis: with particular reference to steroid-receptor assay studies and pathologic correlation.  Mayo Clin Proc. 1984;  59 3-11
    PubMedGoogle Scholar
  • 18 Hayashi T, Flemming M V, Stetler-Stevenson W EG. et al . Immunohistochemical study of matrix metalloproteinases (MMPs) and their tissue inhibitors in pulmonary lymphangioleiomytomatosis.  Hum Pathol. 1997;  28 1071-1078
    CrossrefPubMedGoogle Scholar
  • 19 Johnson S. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms.  Thorax. 1999;  54 254-264
    PubMedGoogle Scholar
  • 20 Johnson S R, Tattersfield A E. Decline in lung function in lymphangioleiomyomatosis. Relation to menopause and progesterone treatment.  Am J Respir Crit Care Med. 1999;  160 628-633
    CrossrefPubMedGoogle Scholar
  • 21 Johnson S R, Tattersfield A E. Clinical experince of lymphangioleiomyomatosis in the UK.  Thorax. 2000;  55 1052-1057
    CrossrefPubMedGoogle Scholar
  • 22 Kirchner J, Stein A, Viel K. et al . Pulmonary lymphangioleiomyomatosis: high-resolutin CT findings.  Eur Radiol. 1999;  9 49-54
    CrossrefPubMedGoogle Scholar
  • 23 Kitaichi M, Nishimura K, Itoh H. et al . Pulmonary lymphangioleiomyomatosis. A Report of 46 patients including a clinicopathologic study of prognostic factors.  Am J Respir Crit Care Med. 1995;  151 527-533
    CrossrefPubMedGoogle Scholar
  • 24 Lutembacher R. Dysembryomes metatypiques des reins: carcinose submiliaire aigue du poumon avec emphyseme generalise et double pneumothorax.  Ann Med. 1918;  5 435-450
    PubMedGoogle Scholar
  • 25 Matsui K, Takeda K, Yu Z X. et al . Downregulation of estrogen and progesterone receptors in the abnormal smooth muscle cells in pulmonary lymphangioleiomyomatosis following therapy. An immunohistochemical study.  Am J Respir Crit Care Med. 2000;  161 1002-1009
    CrossrefPubMedGoogle Scholar
  • 26 Matsui K, Tatsuguchi A, Valencia J. et al . Extrapulmonary lymphangioleiomoymatosis (LAM): Clincopathologic features in 22 cases.  Hum Pathol. 2000;  31 1242-1248
    CrossrefPubMedGoogle Scholar
  • 27 Matsui K, Takeda K, Yu Z X. et al . Role for activation of matrix metalloproteinases in the pathogenesis of pulmonary lymphangioleiomyomatosis.  Arch Pathol Lab Med. 2000;  124 267-275
    PubMedGoogle Scholar
  • 28 Matsumoto Y, Horiba K, Usuki J. et al . Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis.  Am J Respir Cell Mol Biol. 1999;  21 327-336
    CrossrefPubMedGoogle Scholar
  • 29 Maziak D E, Kesten S, Rappaport D C. et al . Extrathoracic angiomyolipomas in lymphangioleiomyomatosis.  Eur Respir J. 1996;  9 402-405
    CrossrefPubMedGoogle Scholar
  • 30 Moss J, Avila N A, Barnes P M. et al . Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex.  Am J Respir Crit Care Med. 2001;  163 669-671
    PubMedGoogle Scholar
  • 31 Moss J, DeCastro R, Patronas N J. et al . Meningiomas in lymphangioleiomyomatosis.  JAMA. 2001;  286 1879-1881
    CrossrefPubMedGoogle Scholar
  • 32 Neumann H PH, Kandt R S. Klinik und Genetik der tuberösen Sklerose.  Dtsch med Wschr. 1993;  118 1577-1583
    PubMedGoogle Scholar
  • 33 Popper H H, Juettner-Smolle F M, Pongratz M G. Micronodular hyperplasia of type II pneumocytes - a new lung lesion associated with tuberous sclerosis.  Histopathology. 1991;  18 347-354
    PubMedGoogle Scholar
  • 34 Rosendal T. A case of diffuse myomatosis and cyst formation in the lung.  Acta Radiol. 1942;  23 138-146
    PubMedGoogle Scholar
  • 35 Roujeau J, Delarue J, Depierre R. Lymphangiectasie pulmonaire diffuse, pneumonie chyleuse et chylothorax, après thrombose puerpérale de la veine sous-clavière gauche.  J Fr Med Chir Thor. 1950;  5 488-503
    PubMedGoogle Scholar
  • 36 Short M P, Kwiatkowski D J. Clinical and genetic aspects of tuberous sclerosis complex I and II. In: Moss J (eds.). LAM and other diseases characterised by smooth muscle proliferation. New York: Marcel Dekker 1999: 387-406
    Google Scholar
  • 37 Silverstein E, Ellis K, Wolff M. et al . Pulmonary lymphangiomyomatosis.  Am J Roentgenol. 1974;  120 12-15
    PubMedGoogle Scholar
  • 38 Smolarek T A, Wessner L L, McCormack F X. et al . Evidence that lymphangioleiomyomatosis is caused by TSC2 mutations: Chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangioleiomyomatosis.  Am J Hum Genet. 1998;  62 810-815
    CrossrefPubMedGoogle Scholar
  • 39 Sullivan E J. Lymphangioleiomyomatosis.  Chest. 1998;  114 1689-1703
    PubMedGoogle Scholar
  • 40 Tanaka H, Imada A, Morikawa T. et al . Diagnosis of pulmonaray lymphangioleiomyomatosis by HMB-45 in surgically treated spontaneous pneumothorax.  Eur Respir J. 1995;  8 1879-1882
    CrossrefPubMedGoogle Scholar
  • 41 Taveira-DaSilva A M, Hedin C, Stylianou M P. et al . Reversible airflow obstruction, proliferation of abnormal smooth muscle cells, and impairment of gas exchange as predictors of outcome in lymphangioleiomyomatosis.  Am J Respir Crit Care Med. 2001;  164 1072-1076
    CrossrefPubMedGoogle Scholar
  • 42 Taylor J R, Ryu J, Colby T V. et al . Lymphangioleiomyomatosis. Clinical course in 32 patients.  New Engl J Med. 1990;  323 1254-1260
    PubMedGoogle Scholar
  • 43 Travis W D, Usuki J, Horiba K. et al .Histopathologic studies on lymphangioleiomyomatosis. In: Moss J (eds.). LAM and other diseases characterised by smooth muscle proliferation. New York: Marcel Dekker 1999: 171-217
    Google Scholar
  • 44 Trulock E P. Lung transplantation: special considerations and outcome in LAM. In: Moss J (eds.). LAM and other diseases characterised by smooth muscle proliferation. New York: Marcel Dekker 1999: 65-78
    Google Scholar
  • 45 Urban T, Lazor R, Lacronique J. et al . Pulmonary lymphangioliomyomatosis. A study of 69 patients.  Medicine. 1999;  78 321-337
    CrossrefPubMedGoogle Scholar
  • 46 Von Stössel E. Über musculäre Cirrhose der Lunge.  Beitr Klin Tuberk. 1937;  90 432-442
    PubMedGoogle Scholar
  • 47 Wahedna I, Cooper S, Williams J. et al . Relation of pulmonary lymphangioleiomyomatosis to use of the oral contraceptive pill and fertility in the UK: a national case control study.  Thorax. 1994;  49 910-914
    PubMedGoogle Scholar
  • 48 Yu J, Astrinidis A, Henske E P. Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis.  Am J Respir Crit Care Med. 2001;  164 1537-1540
    PubMedGoogle Scholar

Prof. Dr. 
U. Costabel

Ruhrlandklinik · Abteilung Pneumologie/Allergologie

Tüschener Weg 40

45239 Essen

Email: erj.costabel.@t-online.de

      >