Alpha-1 Antitrypsin: Common Alpha-1 Antitrypsin Deficiency Misdiagnosis & the Standard of Care Diseases/Disorders Family Health

Alpha-1 antitrypsin deficiency is a genetic illness that affects breathing. It occurs when alpha-1 antitrypsin protein levels are too low. Alpha-1 antitrypsin is produced by the liver and helps lungs function properly. 

In those who have alpha-1 antitrypsin deficiency, their oxygen saturation may be lower than normal, they may get sick easier, have weaker immune systems, and/or need supplemental oxygen depending on how the illness has progressed. Remember everyone is different. 

It can take patients a long time to be properly diagnosed with alpha-1 antitrypsin deficiency, as symptoms can overlap with other illnesses and the only way to properly diagnose alpha-1 is by doing a blood test. It is a rare illness that many medical professionals and the general public aren’t aware of unfortunately. 

Common diseases that someone with alpha-1 antitrypsin deficiency can be diagnosed with instead of being properly tested and diagnosed with alpha-1 antitrypsin deficiency include:

• Chronic Obstructive Pulmonary Disease (COPD)
• emphysema
• asthma
• pneumonia
• bronchitis

Not being properly diagnosed can increase health risks the longer the delay because adequate levels of the alpha-1 antitrypsin protein are needed for lungs to function properly.

The Standard of Care

The standard of care for patients who could potentially have alpha-1 antitrypsin deficiency needs improvement. Patients go to emergency rooms because they are having trouble breathing, have a high heart rate, suspect they have the flu or other reasons, but are ignored or belittled because the emergency room doctor doesn’t know enough about alpha-1 antitrypsin deficiency. It is a rare illness, so doctors don’t test for alpha-1 antitrypsin deficiency as much as they should. The key is to catch it as soon as possible so the patient can start augmentation therapy and slow the progression or have transplants if that’s something the patient wants. 

Going to the emergency room with breathing problems is scary. We feel like emergency rooms aren’t equipped to handle such scenarios, but that’s where your doctor asks you to go if you have problems after hours. Patients with alpha-1 antitrypsin deficiency need to be taken seriously by all medical professionals and receive the best care. Patients who have alpha-1 antitrypsin deficiency may have supplemental oxygen to help keep their oxygen saturation level at a normal range. Unfortunately, this is the reality for so many patients who suffer with alpha-1 antitrypsin deficiency: 

• Doctors dismissing their symptoms because they don’t know enough about the illness.
• Being misdiagnosed.
• Being treated poorly. 

It is time this is stopped. If more doctors were aware of alpha-1 antitrypsin deficiency, patients would be able to start treatment sooner rather than later. Appropriate standard of care for alpha-1 antitrypsin deficiency patients is crucial as it is a potentially life-threatening illness.

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