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    Add as Friendlymphangioleiomyomatosis

    by: vidyasagar

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    1 : Lymphangioleiomyomatosis B.VIDYASAGAR,MD,DTCD,DNB Professor of chest diseases, Department of chest diseases, JJM Medical college, Davanagere-577004,INDIA.
    2 : CASE HISTORY SM,34yrs old female,presented with cough,breathlessness,weight loss of 1yr duration,started during her pregnancy, o/e,emaciated female,resp.system-fine rales all over the lung fields,mild hepatomegaly,no clubbing,resting o2 saturation 96%.routine blood and urine investigations were normal except for esr-110mm/1st hr,hiv I&II negative, thyroid fn.tests-wnl.chest x-ray pa view showed hyper inflated lungs.
    3 : Pulmonary function tests-mixed restrictive,obstructive disorder. Pt was started on fluticasone nasal spray, salmetrol/fluticasone dpi. Pt was better after 3 months,but still c/o exhaustion, breathlessness on exertion. Pt had rt.pneumothorax in nov 09,lung promptly expanded after icd/uws. Pts breathlessness gradually started interfering with her day to day activities,pt started desaturating on minimal exertion. Ct chest was ordered. Pt admitted to hospital on 28/07/ was started on oxygen,progesterone,pt started improving after 3 days,was discharged in better health.
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    11 : Background Lymphangioleiomyomatosis(LAM) is a rare disorder resulting from proliferation in the lung, kidney & axial lymphatics of neoplastic cell having a smooth muscle cell phenotype (LAM cell). Cystic destruction of the lung with progressive pulmonary dysfunction and the presence of abdominal tumours (Ex:Angiomyolipomas[AML], lymphangioleiomyomas) characterize the disease. Because this condition typically occurs in premenopausal women,involvement of female hormones in disease pathogenesis is current hypothesis. LAM was 1st reported in 1918 by Lutembacher.
    12 : Pathophysiology Lymphangioleiomyomatosis cell proliferation Obstruction of bronchioles Airflow obstruction Air trapping Bullae formation Pneumothoraces Obstruction of lymphatics Chylothorax Chylous ascitis Obstruction of venules Hemosiderosis Hemoptysis Excessive proteolytic activity, which relates to an imbalance of the elastase/alpha 1-antitrypsin system or metalloprotease(MMPs) & their inhibitors(tissue inhibitors of metalloproteases[TIMPS]) may be important in lung destruction and formation of cyst like lesions.
    13 : Frequency United states: The frequency of LAM is unknown.To date, more than 500 cases exist in the US.As the disease becomes better recognized because of increased awareness and better diagnostic techniques,the prevalence may increase. India: Only 4 cases have been reported so far in Indian literature. International: The international frequency of LAM is unknown, though Europe & Japan report case series. Earlier reports indicate a grim prognosis with progressive respiratory failure and death with in 10 years of diagnosis. Recent reports are more favourable, with 78% of patients who are affected alive at 8.5 years. The statistics may improve further as patients are diagnosed earlier(lead time bias) or with more benign disease. Mortality/morbidity
    14 : Race No racial predilection for LAM exists. Sex LAM primarily is a disease of women; however, rare case reports of LAM in men exist, primarily in men with tuberous sclerosis complex, an inherited disorder having shared features with LAM. Age Although primarily a disease of women of childbearing age, LAM has been reported in patients aged 12 years to patients older than 70 years.Some of the latter patients have been on hormone replacement therapy.
    15 : Clinical features History Common LAM symptoms-Dyspnea, manifestations of pneumothorax,cough. Less common sympyoms-Chest pain, chylothorax, chyluria, pericardial effusion, lynphedema, pneumoperitoneum. Exacerbations of LAM are described during pregnancy, menstruation and Estrogen use.
    16 : Physical LAM examinations are usually normal Less common findings- crackles, wheezes, clubbing, Pleural effusion, pneumothorax, ascites. Signs of tuberous sclerosis- Facial angiofibromas, ungual fibromas, hypomelanotic macules, ash-leaf spot, Shagreen patch(a cluster of hamartoma typically located on the lower back), forehead plaque, retinal hamartoma.
    17 : Causes The etiology of LAM is unknown; however, the fact that the condition occurs primarily in women who are premenopausal and is exacerbated by high estrogen states suggests a role for hormones in this condition. The link with tuberous sclerosis (TSC) suggests a genetic component.
    18 : Differential diagnosis General conditions diagnosed in patients with LAM-asthma, spontaneous pneumothorax, emphysema. Tuberous sclerosis-probably a predisposing condition,several clinical features shared, gentic features shared.(TSC2 gene mutation in LAM lung tissue and AML). Conditions with cysts,honeycombing or interstitial pattern-Interstitial pulmonary fibrosis, eosinophilic granuloma, bronchiolitis Lymphatic disorders-pulmonary lymphangiectasis, diffuse pulmonary lymphangiomatosis,lymphangiomas. Smooth muscle proliferation-leiomyosarcoma,smooth muscle proliferation in the lung,benign metastasizing leiomyoma.
    19 : Workup Laboratory studies several case reports show an elevated cancer antigen 125 in patients with LAM and chylous ascites and/or pleural effusion Imaging studies Chest radiograph findings-may be normal, fine reticular or reticulonodular interstitial infilterate-lung volume not reduced,delicate honeycombing-more advanced disease,pleural effusion,pneumothoraces.. CT scan & high resolution CT scan-diffuse thin walled cysts-the defining characteristic appearance in LAM,intervening parenchyma usually normal,normal or increased lung volumes,adenopathy & thoracic duct dilatation,pleural effusion,pneumothorax,ground-glass opacities-pulmonary haemorrhage,pericardial effusion.
    20 : Abdominal imaging by either ultrasound or CT scan-angiomyolipoma(AML); benign tumours (kidney,liver,spleen) containing smooth muscle,thick-walled blood vessels & mature adipose tissue, retroperitoneal adenopathy. Other tests Pulmonary function tests – (1)decreased diffusion capacity for CO-most common abnormality seen,often markedly reduced.Hypoxemia at rest, worsening with exercise,is a common finding.(2)spirometry-airflow obstruction most frequent abnormality; restiction(previous pleural diseases) or mixed obstruction & restriction also seen.(3)lung volumes-increased TLC & increased residual volume to TLC ratio
    21 : Procedures In the past, open or thorascopic lung biopsies were required for histologic confirmation of the diagnosis. Histologic diagnosis now can be made by performing transbronchial biopsy(TBB),the amount of tissue obtained from TBB may be insufficient to confirm a diagnosis.LAM cells react with human melanoma black(HMB)-45,an antibody generated against an extract of melanoma.HMB-45 staining is sensitive & specific for the presence of LAM cells & may help in confirming LAM on TBB.
    22 : Histologic findings Macroscopic pathology Lung-cysts evenly distributed in all lung fields Lymph nodes(retroperitoneal & pelvic)-pale & spongy,large chyle-filled cysts within the axial lymphatic system. Thoracic duct-large,spongy & sausage like. Microscopic pathology Lung-proliferation of neoplastic LAM cells(spindle shaped cells with small nuclei,larger epitheloid cells)with clear cytoplasm & round nuclei;loss of alveoli with cyst formation;cystic spaces with LAM in their walls;smooth-muscle proliferation in bronchiolar walls,causing airway narrowing,thickened arterial walls with venous occlusion & haemosiderosis.
    23 : Involved lymph nodes and thoracic duct-interlacing bundles of LAM cells,which may invade the wall of the lymphatics. Immunnohistochemical staining- (1) reactivity with anti-alpha-smooth actin antibodies supports smooth muscle differentiation. (2) ER & progesterone receptors are present, but their role unclear. (3) monoclonal antibody HMB-45,generated against melanoma extract and recognising cells with epitheloid features(rarely,spindle cells are HMB-45 positive), may help confirm the diagnosis of LAM on biopsy. (4) Immunohistochemical staining may define renal and hepatic AML.
    24 : Treatment Medical care General care for LAM 1.Pleural effusions-chemical pleurodesis,surgical obliteration of the pleural space,medium chain triglyceride(MCT[not a component of chyle]),lipid-free diet to reduce chyle flow(utility unknown) 2.Ascitis-Paracentesis,MCT diet. 3.Pulmonary dysfunction-general pulmonary care(Ex:vaccines),bronchodilators(+/- benefit), supplementation oxygen,pulmonary rehabilitation. 4.Lung transplantation. Hormonal manipulation-Medroxyprogesterone & gonadotropin-utility unknown.Tamoxifin-not recommended
    25 : 5.New experimental therapies-Rapamycin-initial trials in AML,now being investigated as a therapy in pulmonary LAM; Doxycycline-anti-angiogenic,antibiotic & matrix effects; Octreotide. Surgical care Management of recurrent pneumothoraces or pleural effusions may require surgical intervention;in addition,patients with AML can develop complications(Ex:haemorrhage),requiring intervention Consider lung transplantation for patients with end-stage pulmonary disease. The Medscape transplantation speciality center may be helpful . Oophorectomy not thought to be effective based on recent case studies.
    26 : Complications of LAM Pneumothorax Hemoptysis Chylothorax Ascites Chyloptysis Chyluria Pericardial effusion Pneumoperitoneum Acute abdomen Lymphedema Respiratory failure
    27 : Prognosis As many as 78% of patients are alive at 8.5 years after he disease onset.Poor prognostic factors are as follows: Reduced forced respiratory volume in 1 second and/or diffusing capacity for carbon monoxide. Increased TLC. Histologically, a poor LAM histology score, which quantifies the involvement of the lung with both LAM cells & cysts.
    28 : Missed presentation of LAM ‘Emphysema’ in younger women. ‘Asthma’ unresponsive to therapy. Pneumothorax during pregnancy Respiratory symptoms in TSC. Medicolegal pitfalls Failure to diagnose LAM Failure to consider LAM in women of childbearing years who present with recurrent pneumothoraces, unexplained dyspnoea or chylous effusion. Failure to look for LAM in patients with TSC or AML of the kidneys.

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