Lung condition featured in soap opera highlights challenges with rare diseases in Brazil.

The new telenovela "Três Graças ," written by Aguinaldo Silva and broadcast by TV Globo, has drawn attention to a condition little known by most Brazilians: pulmonary arterial hypertension (PAH). The disease causes an increase in pressure in the blood vessels of the lungs, overloading the right side of the heart and making the organ thicker and more dilated, which reduces the amount of blood it can send to the rest of the body.

In the storyline, the character Lígia (played by actress Dira Paes) faces the silent progression of a serious illness, unaware that the treatment she has been receiving for months is ineffective, as the medications used are counterfeit. The plot reflects some of the challenges faced by people with highly complex diseases.

According to pulmonologist Alexandre de Melo Kawassaki, from the Einstein Israelite Hospital, the low incidence of cases means that the characteristics of these conditions are little known by non-specialized professionals, which hinders their identification and generates a scenario of underdiagnosis. "Before a patient receives a final diagnosis of pulmonary arterial hypertension, it is relatively common for them to be mistakenly diagnosed with other health problems, such as asthma, pneumonia, and even anxiety," he reports.

The typical symptoms of PAH are similar to those of these and other conditions. They include shortness of breath, fatigue, chest pain, dizziness, and swelling in the legs, for example. Another difficulty for early diagnosis is related to the reliance on less accessible tests, such as right heart catheterization, used to confirm pulmonary arterial hypertension.

“Patients with rare diseases experience an odyssey before receiving the correct diagnosis and starting treatment. The average time for diagnosis of a rare disease is almost six years worldwide,” points out the pulmonologist. “This delay increases the risk of developing complications that reduce quality of life and life expectancy.”

PAH is not an isolated problem. As highlighted in a 2019 study published in the European Journal of Human Genetics , considering the more than 6,000 formally recognized rare diseases, it is estimated that they have a prevalence of 3.5% to 5.9% in the world population. This means that between 263 million and 446 million people live with one of these diagnoses.

Specifically in the context of rare lung conditions, another example is interstitial lung diseases (ILDs). This group encompasses more than 200 problems characterized by inflammation and scarring of the tissue surrounding the alveoli, hindering oxygen exchange in the lungs. Among them are idiopathic pulmonary fibrosis (IPF), lymphangioleiomyomatosis (LAM), and pulmonary alveolar proteinosis (PAP). Learn more about these conditions below.

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis is a chronic and progressive disease that affects the lungs, causing scarring of the lung tissue and making breathing increasingly difficult. Despite advances in medicine, the exact cause is still unknown, but it is more prevalent among men over 50 years of age who smoke.

Symptoms include shortness of breath, persistent dry cough, fatigue, and loss of appetite and weight. They tend to appear slowly and subtly, which contributes to delayed diagnosis. Initially, the signs are often attributed to age or lack of physical fitness; however, as the disease progresses, even simple activities, such as getting dressed or climbing a few stairs, can cause significant respiratory discomfort.

“Basically, the condition causes the supporting structure of the lungs, similar to sponges, to acquire a fibrous appearance, which hinders normal movement,” explains Kawassaki, who is a member of the Interstitial Lung Disease Center at Einstein Hospital. “Without this compliance [ability to stretch and expand] , the organ has difficulty ensuring the entry and exit of air, in a process that also compromises the exchange of carbon dioxide for oxygen.”

Diagnosing IPF may involve a series of tests, such as pulmonary function tests, blood tests, chest X-rays, and CT scans. In some cases, the doctor may order a lung biopsy.

Although there is still no cure, several treatments can help alleviate symptoms and slow the progression of the disease. Currently, the most effective method is considered to be based on antifibrotic medications, which reduce inflammation and the formation of scar tissue in the lungs.

“Unfortunately, this treatment is not available free of charge throughout the country, only in some states, such as Pernambuco, Goiás, and Minas Gerais, which have incorporated it into the Unified Health System (SUS),” the doctor points out. Other approaches serve to support the patient, such as oxygen therapy and pulmonary rehabilitation.

Lymphangioleiomyomatosis

LAM almost exclusively affects women, usually between 20 and 40 years of age. Its cause is still unknown, but it is believed to be related to the abnormal proliferation of smooth muscle cells in the lungs, leading to the formation of cysts that compromise lung structure and function.

The most common symptoms are progressive shortness of breath, cough, chest pain, and, in some cases, coughing up blood (hemoptysis). Often, the first sign of the disease is a spontaneous pneumothorax, when the lung collapses without apparent cause. Fluid accumulation in the pleura (pleural effusion) can also occur.

It progresses slowly and steadily, and can lead to respiratory failure. There are reports of worsening symptoms during pregnancy, probably due to hormonal influence.

Diagnosis is made through imaging tests, such as chest X-rays and computed tomography (CT) scans, which reveal the characteristic pulmonary cysts. A blood test that measures the level of vascular endothelial growth factor D (VEGF-D) is also useful, as elevated levels of this substance are frequently found in people with LAM.

Treatment for lymphangioleiomyomatosis has advanced in recent years. The drug sirolimus, originally used to prevent rejection in kidney transplants, has proven effective in slowing the decline of lung function and improving the quality of life of patients. “Thanks to the mobilization of women's associations for patients with LAM, treatment with sirolimus was incorporated into the Brazilian public health system (SUS) in 2020,” recalls Kawassaki. “This represented a significant advance in the care of these patients, who now have better prospects for treatment and follow-up.”

Pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis is characterized by the abnormal accumulation of proteins, fats, and other substances in the alveoli, small structures in the lungs responsible for the exchange of oxygen with the blood. This clumping blocks the passage of oxygen, leading to progressive shortness of breath, fatigue, persistent cough, and, in advanced cases, respiratory failure.

Although it can occur at any age, it is more common among adult men, especially those with a history of smoking or exposure to mineral dust and industrial chemicals. While its exact cause is unknown, spontaneous remission is not uncommon.

For diagnosis, imaging tests such as X-rays and CT scans are essential, as they often reveal altered patterns and help differentiate them from other lung problems. Laboratory tests, bronchoscopy, and, in some cases, lung biopsy may also be used to confirm the diagnosis and identify the severity of the disease.

Currently, there is no definitive cure for PAP, but there are effective treatments to control the disease and improve quality of life. The most commonly used procedure is total lung lavage, in which the lung is filled with saline solution under general anesthesia and then drained to remove the accumulated material. This mechanically eliminates the buildup of proteins and fats from the alveoli.

“Many patients show significant improvement after lung lavage, while others may have a slower or more complicated recovery. Therefore, there are also other types of medication-based care. Some of them can even be found through the SUS (Brazilian public healthcare system),” concludes Alexandre Kawassaki.

Source: Einstein Agency

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