Signs and Symptoms - Rare Diseases Explained

Estimated reading time:
6 min

ICD-10 code

  • J45.909

Struggling to Breathe? Let’s Talk About Asthma

Asthma is a chronic respiratory condition that affects the airways in the lungs, causing them to become inflamed and narrow. This can lead to breathing difficulties that range from mild to life-threatening. While asthma can develop at any age, it often begins in childhood and requires lifelong management.

This article explores the causes, symptoms, treatment options, the link to rare diseases such as EGPA (Eosinophilic granulomatosis with polyangiitis) and long-term management strategies for asthma. 

What Is Bronchial Asthma?

Asthma is a condition in which your airways narrow and swell, producing extra mucus. This triggers coughing, wheezing, chest tightness, and shortness of breath. Asthma can be a minor inconvenience for some people, but for others, it can interfere with daily activities and may lead to serious attacks.

According to the Centers for Disease Control and Prevention (CDC), approximately 1 in 13 people in the United States have asthma [1]. It is one of the leading causes of school and work absences due to respiratory illness.

The exact cause of asthma is not fully understood, but it is believed to be due to a combination of environmental and genetic factors. Common asthma triggers include:

  • Allergens like pollen, mold, pet dander, and dust mites 
  • Air pollutants and irritants such as smoke and chemical fumes 
  • Respiratory infections 
  • Physical activity, especially in cold weather (exercise-induced asthma) 
  • Cold air 
  • Stress and strong emotions 
  • Certain medications like aspirin or beta blockers 

People with a family history of asthma or allergies are at higher risk of developing the condition.

Global Asthma Statistics

Asthma is a significant global health issue. According to the Global Initiative for Asthma (GINA):

  • In the United States, about 25 million people currently live with asthma [2]. 
  • In Europe, estimates suggest that asthma affects over 30 million adults and children, with prevalence ranging from 5 to 10 percent depending on the country [3]. 
  • In Latin America, countries like Brazil, Mexico, and Argentina report prevalence rates between 10 and 20 percent in children, often due to urban air pollution and limited access to consistent healthcare [4].

Recognizing Symptoms of an Asthmatic Condition

Asthma symptoms can vary from person to person. Common symptoms include:

  • Shortness of breath 
  • Chest tightness or pain 
  • Wheezing when exhaling 
  • Coughing, especially at night, early morning, or during exercise 

Some individuals may experience infrequent symptoms, while others may have symptoms nearly every day. Severe asthma attacks require immediate medical attention.

Asthma and EGPA (Eosinophilic Granulomatosis with Polyangiitis)

Asthma is more than a common respiratory condition. In rare cases, it can be an early manifestation of Eosinophilic Granulomatosis with Polyangiitis (EGPA), a rare disease, which includes a form of vasculitis that affects small- to medium-sized blood vessels. 

According to Groh et al. (2015) EGPA almost always begins with asthma, particularly in adults with late-onset or treatment-resistant forms [5].  In the context of EGPA, asthma is typically non-allergic and eosinophilic, which means it is not triggered by allergens and involves high levels of a specific type of white blood cell called eosinophils.

The NIH Genetic and Rare Diseases Information Center (GARD) states that as the disease progresses, it can lead to systemic inflammation, organ damage, and other symptoms such as sinusitis, nasal polyps, skin rashes, and neuropathy [6].

Recognizing the link between asthma and EGPA is critical, especially when asthma is accompanied by elevated eosinophil levels or fails to respond to standard therapy. The risk of EGPA becomes more relevant in patients whose asthma is difficult or impossible to control with conventional treatment. In many cases, EGPA is preceded by years of severe or late-onset asthma, which may not improve despite high-dose inhaled medications or biologics. Early detection and intervention can significantly impact patient outcomes.

Treatment options of Chronic Asthma

There is no cure for asthma, but it can be effectively managed with medications and lifestyle adjustments. Treatment options for general Asthma as stated by Mayo Clinic are: 

1. Medications

  • Long-term control medications: These include inhaled corticosteroids (e.g., fluticasone, budesonide), leukotriene modifiers, and long-acting beta agonists (LABAs). 
  • Quick-relief (rescue) medications: Short-acting beta agonists (SABAs) like albuterol are used to quickly relieve symptoms during an asthma attack. 
  • Biologics: For severe asthma, biologic therapies such as omalizumab or mepolizumab may be prescribed. 

2. Monitoring and Lifestyle

  • Use of a peak flow meter to track breathing function 
  • Avoidance of known triggers 
  • Smoking cessation 
  • Regular exercise within individual tolerance 

3. Asthma Action Plan

Patients are encouraged to work with their healthcare provider to develop a personalized asthma action plan. This outlines daily management and how to recognize and handle worsening symptoms  [7].

4. EGPA Treatment

When asthma is part of EGPA, treatment focuses on controlling the underlying autoimmune disease—not just the asthma symptoms. This is because EGPA causes inflammation in blood vessels throughout the body, not only in the lungs. Treating the whole disease with systemic medications like corticosteroids or immunosuppressants is essential to prevent damage to other organs such as the nerves, skin, heart, or kidneys. As a result, asthma symptoms often improve as the overall inflammation is brought under control.

If you have asthma and suspect having a rare disease, you can use our free Risk Check for Rare Diseases. Just fill out our Patient Form and we do the rest. Get your secured analysis today, powered by AI and reviewed by our team of medical experts.

References:

  1. Centers for Disease Control and Prevention (CDC). “Asthma.” https://www.cdc.gov/asthma/most_recent_national_asthma_data.htm
  2. Centers for Disease Control and Prevention (CDC). “Asthma Prevalence US 2023.” https://www.cdc.gov/asthma/asthma-prevalence-us-2023-508.pdf
  3. Eurostat. “ Finland: EU country with highest share of asthmatics” 2021 https://ec.europa.eu/eurostat/web/products-eurostat-news/-/edn-20210924-1#:~:text=In%202019%2C%20asthma%20affected%20almost,and%20France%20(both%208%25).
  4. Cooper PJ, Figueiredo CA, Rodriguez A, et al. Understanding and controlling asthma in Latin America: a review of recent research informed by the SCAALA programme. Clin Transl Allergy. 2023;e12232. https://doi.org/10.1002/clt2.12232
  5. Groh M, Pagnoux C, Baldini C, et al. Eosinophilic granulomatosis with polyangiitis (Churg–Strauss): evolution of disease classification, current diagnostic and treatment approaches. Eur J Intern Med. 2015 Sep;26(7):545-53: https://doi.org/10.1016/j.ejim.2015.04.022
  6. NIH Genetic and Rare Diseases Information Center (GARD). “Eosinophilic Granulomatosis with Polyangiitis.” https://rarediseases.info.nih.gov/diseases/8865/eosinophilic-granulomatosis-with-polyangiitis
  7. Mayo Clinic “Asthma, Diagnosis and Treatment” https://www.mayoclinic.org/diseases-conditions/asthma/diagnosis-treatment/drc-20369660
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