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Molecular Approach To Diagnose Pulmonary Hypertension

August 21, 2020
Medically reviewed by Susan Kerrigan, MD and Marianne Madsen
Additions/comments by Pulmonologist Kelly Fan, MD

Pulmonary hypertension is a serious condition that causes high blood pressure in the arteries of the lungs and the heart. There are several different types or groups of pulmonary hypertension, but each type presents the same symptoms: fatigue, shortness of breath, chest pain, dizziness, heart palpitations and, in some cases, a blue tint to the lips.

 

There is no cure for the disease, but treatment can help manage the symptoms. Treating pulmonary hypertension usually involves anticoagulant medicines (blood thinners) to reduce the likelihood of blood clots and diuretics to dispel fluid from the body. Blood vessel-widening medications may also be used as well as oxygen therapy.

 

A new way to diagnose pulmonary hypertension

 

Diagnosing pulmonary hypertension can be challenging, as symptoms of one type of the condition, pulmonary arterial hypertension (PAH), are similar to those of pulmonary veno-occlusive disease (PVOD). But a new study published in the American Journal of Pathology has shown that a molecular method called “gene expression analysis” can accurately diagnose PAH and differentiate it from PVOD.

 

Researchers used lung samples from patients with both PAH and PVOD as well as patients with idiopathic pulmonary fibrosis (IPF) and chronic obstructive pulmonary disease (COPD). Control subjects were also used. They found that in patients with PAH, the disease affected their pulmonary arteries and arterioles, but in patients with PVOD, their post-capillary pulmonary vasculature, or vein system, was impacted.

 

Then the researchers analyzed their findings using a deep-learning algorithm. The algorithm proved to be successful: It could differentiate between the two diseases with a 100% sensitivity rate and a 92% specificity rate.

 

“We are confident that the classification accuracy of our molecular approach is close to the gold standard of histopathological diagnosis,” said Lavinia Neubert, M.D. of the Hannover Medical School in Germany, in a statement.

 

“Since lung biopsies remain as high-risk interventions for PH patients and non-invasive approaches currently do not allow for a definite diagnostic accuracy, these findings may facilitate diagnosis of PVOD by molecular analysis, provided that our findings are reproducible in blood or urine samples.”

Kelly Fan, MD

Distinguishing pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) is difficult as they have identical hemodynamics via the right heart catheterization. Treatments used in PAH can often cause harm and worsening symptoms in patients with PVOD. Traditionally biopsy is the gold standard technique to diagnose PVOD but lung biopsy in these patients is often a high risk procedure. Improving our ability to diagnose PVOD without needing a surgical lung biopsy will improve our care for this complex disease.

Developing new treatments for pulmonary hypertension

 

The scientists then decided to perform further testing on the patients using advanced methods such as quantitative proteomics and multiplex immunohistochemistry. Surprisingly, they found a number of genetic changes in those with severe pulmonary hypertension, which they think may lead to the development of new treatments for the disease. The researchers are considering launching new studies to determine if this discovery could prove valuable for the creation of new PH medications.

 

As pulmonary hypertension has no cure and treatment options are limited, new research on the disease is encouraged. This new study not only makes diagnosing the condition much easier, it could also open the door to the development of a specialized gene-targeting medication for PH.

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