Lymphangioleiomyomatosis

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LAM is a progressive cystic lung disease of women, usually of child bearing age with infiltration of bronchial smooth muscle cells and formation of parenchymal cysts. It is caused by mutations in the tumour suppressor gene for tuberin (TSC2) usually but more rarely hamartin (TSC1) explaining its (not absolute) association as a rare complication of tuberous sclerosis. It has been described outside the lung. Guidelines on diagnosis and management were published in 2016 recommending that sirolimus has a major place in therapy[1] .

The commonest presentations are with dyspnoea or more rarely pneumothorax. Chylothorax and chylous ascities can occur.

Chest x-rays usually show a diffuse interstitial infiltrate.

Vascular endothelial growth factor D testing is useful in the diagnosis.

The immunocytology of LAM cells is that they stain positive for alpha-smooth muscle actin and the immunomarker HMB45.

Treatment is by lung transplantation[2] with some evidence for efficacy of sirolimus[3]. Sirolimus is now often the treatment of choice with chylous effusions[4].

References

  1. McCormack FX, Gupta N, Finlay GR, Young LR, Taveira-DaSilva AM, Glasgow CG, Steagall WK, Johnson SR, Sahn SA, Ryu JH, Strange C, Seyama K, Sullivan EJ, Kotloff RM, Downey GP, Chapman JT, Han MK, D'Armiento JM, Inoue Y, Henske EP, Bissler JJ, Colby TV, Kinder BW, Wikenheiser-Brokamp KA, Brown KK, Cordier JF, Meyer C, Cottin V, Brozek JL, Smith K, Wilson KC, Moss J. Official American Thoracic Society/Japanese Respiratory Society Clinical Practice Guidelines: Lymphangioleiomyomatosis Diagnosis and Management. American journal of respiratory and critical care medicine. 2016 Sep 15; 194(6):748-61.(Link to article – subscription may be required.)
  2. Maurer JR, Ryu J, Beck G, Moss J, Lee JC, Finlay G, Brown K, Chapman J, McMahan J, Olson E, Ruoss S, Sherer S. Lung transplantation in the management of patients with lymphangioleiomyomatosis: baseline data from the NHLBI LAM Registry. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation. 2007 Dec; 26(12):1293-9.(Link to article – subscription may be required.)
  3. Davies DM, Johnson SR, Tattersfield AE, Kingswood JC, Cox JA, McCartney DL, Doyle T, Elmslie F, Saggar A, de Vries PJ, Sampson JR. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. The New England journal of medicine. 2008 Jan 10; 358(2):200-3.(Link to article – subscription may be required.)
  4. Harari S, Elia D, Torre O, Bulgheroni E, Provasi E, Moss J. Sirolimus Therapy for Patients With Lymphangioleiomyomatosis Leads to Loss of Chylous Ascites and Circulating LAM Cells. Chest. 2016 Aug; 150(2):e29-32.(Link to article – subscription may be required.)
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