The Problems with Race-Based Medicine Are Not Beyond Correction
AlphaID At Home Kit For Alpha-1 Deficiency Now Available In US
Grifols' test kit to detect alpha-1-antitrypsin deficiency (alpha-1), called AlphaID At Home, is now available for consumers in the U.S., the company announced.
The U.S. Food and Drug Administration (FDA) cleared the kit, which doesn't require a medical prescription, last year, letting adults living in the U.S. Assess their genetic risk of developing chronic obstructive pulmonary disease (COPD), or other lung or liver diseases linked to alpha-1.
The test can be ordered free of charge via a secure HIPAA-compliant online portal.
"Given the fact that it can take several years until a patient with alpha-1 is properly diagnosed, AlphaID At Home can indicate someone's risk for alpha-1 in a matter of weeks," Antonio Martínez, president of Grifols Diagnostic, said in a company press release. "It's a patient-friendly way to make a sophisticated genetic test simple and understandable."
COPD most often arises after long-term exposure to irritants, such as air pollution, chemical gases, and cigarette smoke. In rare cases, it's genetically inherited due to low levels of alpha-1-antitrypsin (AAT), a protein that shields the lungs from damage caused by microbes and environmental factors. People with alpha-1 lung disease most often carry mutations in the Z and S genes.
Importance of early alpha-1 diagnosisMore than 90% of people with alpha-1 are thought to be undiagnosed, according to Grifols. The fact that the condition typically requires a specialized blood test for a diagnosis and can't be identified by an examination or symptoms alone is thought to contribute to this.
An early diagnosis is essential to access treatment and halt factors that contribute to disease progression, including smoking.
"Our hope is that through AlphaID At Home we can increase awareness about alpha-1 and accelerate diagnosis through the ease of at-home testing. This important screening service further strengthens Grifols' firm commitment to the alpha-1 community," said Pia D'Urbano, president of Grifols Biopharma.
The kit is designed to detect the 14 most common mutations linked to alpha-1 using saliva instead of blood. After a sample is collected, it's sent to a certified lab for processing. Test results are available in a secure online portal within a few weeks. Grifols advises those who take the test to share the results with their physician, who can make a definite diagnosis and discuss the next steps.
According to the Alpha-1 Foundation, people who have a relative with alpha-1 disease; people with COPD, regardless of age or ethnicity; and people with chronic liver disease or bronchiectasis, for which the cause remains unknown, should be screened.
"We wholeheartedly support initiatives and innovations that contribute to the diagnosis of alpha-1. As leaders in alpha-1 testing, Grifols is doubling down on its commitment to the alpha-1 community by making it easier and more efficient to get diagnosed," said Scott Santarella, president and CEO of the Alpha-1 Foundation. "This is incredible news for our community and will help patients go on to lead healthier lives."
What Are The Early Signs Of COPD?
Early signs of chronic obstructive pulmonary disease (COPD) include a chronic cough, increased mucus, and tiredness. Knowing which symptoms to look out for at home can help a person know when to visit a doctor for tests.
COPD is the term for a group of lung diseases that tend to worsen over time. Examples of these conditions include emphysema and chronic bronchitis.
COPD obstructs a person's airways, making it difficult to breathe. It is a progressive condition, meaning it tends to worsen over time. Without treatment, COPD can be life threatening.
According to the World Health Organization (WHO), the Global Burden of Disease Study estimated that COPD caused 3.23 million deaths worldwide in 2019. Additionally, health experts estimate around 16 million people in the United States have the disease.
This article describes the early signs and symptoms of COPD and how it gets worse. It also covers when to speak with a doctor.
The Global Initiative for Chronic Obstructive Lung Disease's COPD Gold Guidelines can help doctors assess whether a person has COPD according to the nature and degree of their symptoms, their history of symptom progression, and the presence of additional medical diagnoses that might cause or worsen their symptoms.
Additionally, the guidelines classify the severity of airflow limitation in COPD according to forced expiratory volume (FEV). FEV is how much air a person can push out of their lungs in 1 second during a spirometry test. The lower the value, the more breathing difficulties an individual has. Health experts grade the severity of airflow limitation using four categories:
However, the organization also recognizes that assessment of airflow limitation alone is not sufficient, as health experts now know COPD affects more than a person's ability to breathe. With this in mind, a full medical examination by a doctor can best determine whether an individual has COPD and the degree of the disease's severity.
In its early stages, COPD symptoms may be so mild that the individual does not notice them. The symptoms and severity of COPD can also vary from person to person.
However, because the disease is progressive, symptoms often worsen over time. The early signs and symptoms of COPD can include the below.
Chronic coughA persistent or chronic cough is often one of the first symptoms of COPD. A person may experience a chesty cough that does not go away on its own.
Doctors generally consider a cough that lasts for longer than 8 weeks to be chronic.
Coughing is a protective mechanism that typically occurs in response to irritants, such as inhaled cigarette or tobacco smoke, getting into the lungs. Coughing also helps remove phlegm, or mucus, from the lungs.
However, if a person has an ongoing cough, this may signify a problem with their lungs.
Excess mucus productionProducing too much mucus can also be an early symptom of COPD. Mucus is essential for keeping the airways moist, and it also captures germs and irritants that get into the lungs.
When a person inhales an irritant, their body produces more mucus, which can lead to coughing. Smoking is a very common cause of excess mucus production and coughing.
Long-term exposure to irritants can damage the lungs and lead to COPD. Other lung irritants can include:
The obstruction of the air passages can make it more difficult for a person to breathe, which can lead to shortness of breath, another common symptom of COPD.
At first, shortness of breath may only occur after exercise, but it can worsen over time. Some people cope with their breathing difficulties by becoming less active, which can lead to them becoming less physically fit.
A person with COPD needs to exert extra effort to breathe. This exertion can result in lower energy levels and feeling tired all the time.
Because their lungs are not functioning as well as they should, people with COPD are more likely to experience chest infections, including the common cold, flu, and pneumonia.
Other symptoms of COPD include:
A person with a COPD diagnosis may experience flare-ups, which are also known as COPD exacerbations, when symptoms suddenly worsen. Triggers of COPD flare-ups can include chest infections and exposure to cigarette smoke and other lung irritants.
Exacerbations may begin as mild, but they can become very serious quickly without prompt medical care. Early warning signs of a COPD flare-up may include:
A person who experiences any of the above symptoms regularly should speak with a doctor. Anyone who experiences signs of COPD exacerbation should also consult their doctor as soon as possible.
Even if people are not sure they have COPD, a healthcare professional can usually distinguish between COPD and other diseases. Early diagnosis of COPD can allow individuals to receive treatment sooner, which can help slow the progression of the disease before it becomes severe or life threatening.
The most common cause of COPD is smoking cigarettes or other tobacco products. According to the National Heart, Lung, and Blood Institute, up to 75% of people with COPD either smoke or have smoked. However, long term exposure to other irritants or harmful fumes may also cause or contribute to the condition.
Genetics may also increase the risk of developing COPD. For example, people with a deficiency in a protein called alpha-1 antitrypsin may be more likely to develop the condition, especially if they smoke or have regular exposure to other lung irritants.
The signs and symptoms of COPD most often start in people aged 40 years or older.
Getting a COPD diagnosis begins with a medical exam. Doctors usually start by asking the individual about their symptoms and medical history, including whether or not they smoke and if they have had exposure to any lung irritants.
They may also perform a physical examination and check for wheezing or other signs of lung problems.
To confirm their diagnosis, a healthcare professional may order some tests, such as:
COPD is a common condition. However, some people mistake its symptoms for the normal signs of aging, which can mean they do not get a diagnosis. Without treatment, COPD can become progressively worse over time.
COPD can be a significant cause of disability. An individual with severe COPD may struggle with day-to-day tasks, such as climbing a flight of stairs or standing for prolonged periods to cook a meal. Flare-ups and complications can also severely impact a person's health and quality of life.
There is no cure for COPD, but early diagnosis and treatment can greatly improve a person's outlook. Appropriate treatment and lifestyle changes can relieve symptoms and slow or halt the progression of the condition.
Treatment options include medications, oxygen therapy, and pulmonary rehabilitation. Lifestyle changes involve engaging in regular exercise, eating a nutritious diet, and stopping smoking.
Diagnosed With Genetic COPD? Here Are Your Next Steps
Some people develop chronic obstructive pulmonary disease (COPD) due to a genetic link to the condition. The most understood contributing factor to genetic COPD is an alpha-1 antitrypsin (alpha-1) deficiency.
"In all lungs, there's a substance which can destroy some of the natural architecture or elasticity of the lung, and this is balanced out by [a protein called] alpha-1," says Jeremy Weinberger, MD, a pulmonary and critical care physician at Tufts Medical Center in Boston. "And in those with alpha-1 deficiency, there's a mismatch between these destroying substances and neutralizers, which can lead to destruction of the lung air sacs." As a result, when your body isn't making enough alpha-1 protein, your risk of developing COPD increases.
"This is different from other, nongenetic forms of COPD that are caused by [exposure to] toxic chemicals and things like cigarettes that lead to lung destruction," Dr. Weinberger says.
It's important to talk to your doctor about getting tested for a possible genetic link to your COPD. And if you are diagnosed with an alpha-1 deficiency, it can affect your next steps. Here's where to start.
1. Educate Yourself About Your Diagnosis and How It May Affect Your HealthReceiving an alpha-1 deficiency diagnosis can be confusing and have an impact on your health in many ways. So, it's important to educate yourself through resources such as the Alpha-1 Foundation and ask your doctor what you should be doing to manage your health, says Weinberger.
"Those with a confirmed alpha-1 deficiency have to understand that there's a variety of different presentations and different organs that you should be on the lookout for," Weinberger says. "For example, someone with COPD from alpha-1 should understand that the liver, skin, and immune system can also be involved."
Don't be afraid to ask your doctor any questions that pop up about your test results and what they mean. If you're not getting the answers you're looking for, seek out a qualified lung specialist. Search the Alpha-1 Foundation to find a provider near you.
2. Reevaluate Your COPD Management PlanEveryone with COPD should follow a healthy lifestyle, but with genetic COPD, your doctor may emphasize the importance of making certain day-to-day changes. These are a good start:
Generally speaking, genetic COPD and other forms of COPD can be treated with the same drugs. But, if you're diagnosed with an alpha-1 deficiency in particular, your doctor may recommend augmentation therapy in conjunction with your regular COPD treatment.
Augmentation therapy involves regular infusions of the alpha-1 protein from healthy donors and helps boost levels of this protein in your body. "This is the most direct way to raise alpha-1 levels," says Weinberger.
The therapy does not cure genetic COPD or restore lost lung function, though. Rather, it aims to help slow or stop the progression of lung function decline that can occur in people with an alpha-1 deficiency.
4. Talk to Your FamilyBecause the alpha-1 deficiency is genetic, it's important to tell your family about your diagnosis, so they can also get tested.
"Alpha-1 is what we call a codominant disease," says Weinberger. The type of disease a person has is dictated by abnormal genes inherited from both parents, which means that people who have relatives with an alpha-1 deficiency may be at particular risk of developing it. "The specific type of risk and severity depends on the underlying genetics," he says.
Informing your family of your diagnosis lets them know they should talk to their doctor about their individual risk and whether they should also be tested. Diagnosing an alpha-1 deficiency sooner rather than later can help your family members take steps to protect their health, before issues such as COPD or related liver and skin issues start to crop up.
5. Join a Support GroupAccording to the results of a survey conducted by the Alpha-1 Foundation, over 70 percent of people living with an alpha-1 deficiency, as well as their caregivers, experience mental health challenges, including anxiety and depression. Connecting with others who understand exactly what you're going through can provide an essential source of emotional support and help you feel less alone. Find a support group near you through the Alpha-1 Foundation Support Group Network.
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