Serum VEGF-D in cystic lung disease: JAMA case report
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A 28-year-old nonsmoking woman was referred to the pulmonary clinic for further evaluation of shortness of breath with exertion. She had slowly progressing dyspnea over the past year and general fatigue.

Her physical examination findings were unremarkable and there was no evidence of cutaneous lesions. CT chest revealed diffuse thin-walled pulmonary cysts without nodules, parenchymal changes, or lymphadenopathy. Imaging of her abdomen did not show kidney lesions or abdominal masses. The patient’s serum vascular endothelial growth factor D (VEGF-D) level was elevated at 1300 pg/mL (reference range, <600 pg/mL).

How Do You Interpret These Results?
The VEGF-D level is supportive of a diagnosis of lymphangioleiomyomatosis.

Pulmonary cysts are characteristic of different diseases that include, but are not limited to, Langerhans cell histiocytosis, lymphangioleiomyomatosis (LAM), and Birt-Hogg-Dubé syndrome. The serum level of VEGF-D has been found to be elevated in patients with LAM compared with healthy controls as well as patients with other forms of cystic lung disease and emphysema.

The patient’s clinical presentation and high-resolution CT image findings of cystic lung disease are suggestive of LAM. However, in the absence of other clinical or radiographic features, the diagnosis cannot be definitively established. The elevated VEGF-D level in this setting can confidently confirm the diagnosis of LAM without the need for lung biopsy.

LAM was diagnosed based on the patient’s serum VEGF-D level and pulmonary function testing results that revealed a restrictive lung pattern with a reduced FEV1 at 65%; there was no bronchodilator response. The patient was prescribed sirolimus with improvement in her symptoms. Two years after her initial presentation, she continues to follow up in pulmonary clinic with serial pulmonary function testing that has shown stabilization of her lung function over time.

Clinical Bottom Line
• Serum VEGF-D is a useful noninvasive, diagnostic test for patients presenting with cystic lung disease.

• Serum VEGF-D levels greater than 800 pg/mL are almost 100% specific for the diagnosis of LAM and can help avoid invasive diagnostic procedures, such as lung biopsy.

• Approximately 30% of patients with LAM can have normal serum VEGF-D levels, and a normal level does not exclude the diagnosis of LAM.

• Sirolimus is an effective, FDA-approved treatment for LAM that also leads to consistent reductions in serum VEGF-D levels.

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