Lymphangiomyomatosis

Lymphangiomyomatosis
CT scan of a lung with LAM.
OMIM	606690
DiseasesDB	ddb30755
MeSH	D018192

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Template:Lymphangiomyomatosis Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Varun Kumar, M.B.B.S. [2] Ammu Susheela, M.D. [3]

Synonyms and keywords: Lymphangioleiomyomatosis; LAM; pulmonary lymphangioleiomyomatosis; pulmonary lymphangiomyomatosis

Historical Perspective

• [Disease name] was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
• In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
• In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].

Classification

• [Disease name] may be classified according to [classification method] into [number] subtypes/groups:

• [group1]
• [group2]
• [group3]

• Other variants of [disease name] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].

Pathophysiology

• Lymphangiomyocytosis is defined as a multifocal neoplasm with differentiation of the perivascular epithelioid cell and has a female prepondrance, especially females of child-bearing age. Lymphangiomyomatosis is the result of disorderly smooth muscle proliferation throughout the bronchioles, alveolar septa, perivascular spaces, and lymphatics, resulting in the obstruction of small airways (leading to pulmonary cyst formation and pneumothorax) and lymphatics (leading to chylous pleural effusion). LAM occurs in a sporadic form, which only affects females, who are usually of childbearing age. Lymphangiomyocytosis also occurs in patients who have tuberous sclerosis.
• The pathogenesis of [disease name] is characterized by [feature1], [feature2], and [feature3].
• The tuberous sclerosis complex (TSC) gene mutation has been associated with the development of lymphangiomyomatosis.
• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
• On microscopic histopathological analysis, smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels are characteristic findings of lmphangiomyomatosis.

Causes

• There are no established causes for lymphangiomyomatosis.

Differentiating [disease name] from other Diseases

• [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as:

• [Differential dx1]
• [Differential dx2]
• [Differential dx3]

Epidemiology and Demographics

• Till date, 1500 cases of sporadic cases of lymphangiomyomatosis was estimated to be in United States.

Age

• Lymphangiomyomatosis is more commonly observed among femele patients aged 15-45 years old.

Gender

• Lymphangiomyomatosis affects women exclusively who are of reproductive age group.

Race

• There is no racial predilection for lymphangiomyomatosis.

Risk Factors

• Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

Natural History, Complications and Prognosis

• The majority of patients with [disease name] remain asymptomatic for [duration/years].
• Early clinical features include [manifestation 1], [manifestation 2],and [manifestation 3].
• If left untreated, [#%] of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
• Common complications of lymphangiomyomatosis include ascitis and chylous pleural effusion.
• Prognosis is generally [excellent/good/poor], and the [1/5/10year mortality/survival rate] of patients with [disease name] is approximately [#%].

Diagnosis

Symptoms

• Symptoms of lymphangiomyomatosis may include the following:

• Constipation
• Dyspnea
• Cough

Physical Examination

• Physical examination may be remarkable for:

• Crackles
• Wheezes
• Pleural effusion
• Pneumothorax
• Ascites
• Facial angiofibromas
• Periungual fibromas
• Hypomelanotic macules, ash-leaf spots
• Shagreen patch
• Forehead plaque
• Retinal hamartoma

Laboratory Findings

• There are no specific laboratory findings associated with [disease name].
• A [positive/negative] [test name] is diagnostic of [disease name].
• An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
• Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Imaging Findings

• There are no [imaging study] findings associated with [disease name].
• [Imaging study 1] is the imaging modality of choice for [disease name]. *On [imaging study 1], [disease name] is characterized by [finding 1], [finding 2], and [finding 3].
• [Imaging study 2] may demonstrate [finding 1], [finding 2], and [finding 3].

High-resolution CT of the chest is both more specific than chest x ray for the diagnosis, as well as better able to assess the degree of pulmonary involvement.

• 

• With LAM, there is diffuse replacement of the pulmonary parenchyma by thin-walled cysts measuring 2-20 mm in diameter, with equal involvement of upper and lower lung zones. On chest X-rays, superimposition of the cysts gives a reticulonodular pattern of interstitial lung disease.

Other Diagnostic Studies

• Lymphangiomyomatosis may also be diagnosed using immunohistochemistry.
• Findings on immunohistochemistry include Flt-4 (VEGFR-3).

Treatment

Medical Therapy

• There is no treatment for [disease name]; the mainstay of therapy is supportive care.
• The mainstay of therapy for [disease name] is [medical therapy 1] and [medical therapy 2].
• [Medical therapy 1] acts by [mechanism of action1].
• Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].

Surgery

• Surgery is the mainstay of therapy for [disease name].
• [Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
• [Surgical procedure] can only be performed for patients with [disease stage] [disease name].

Prevention

• There are no primary preventive measures available for [disease name].
• Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
• Once diagnosed and successfully treated, patients with [disease name] are followedup every [duration]. Followup testing includes [test 1], [test 2], and [test 3].