Austrian Self-Help for Primary and Secondary Immunodeficiencies with Immunoglobulin Therapies

We reliably support individuals with a primary immunodeficiency or secondary immunodeficiency undergoing immunoglobulin therapy through targeted counseling, comprehensive education, and appropriate informational materials. Our goal is to answer all emerging questions after diagnosis, assist them in finding experts in Austria, and raise public awareness about the rare conditions 'Primary Immunodeficiency' and 'Secondary Immunodeficiency.'

 

In our brochures, we provide targeted information about specific forms of primary and secondary immunodeficiencies.

 

What is a Primary Immunodeficiency?

Primary immunodeficiencies (PID) are hereditary and genetic defects of the immune system that lead to increased susceptibility to a variety of infections affecting the skin, ears, lungs, intestines, and other parts of the body. PIDs often present themselves as otherwise ordinary infections, but they are significantly more severe and prolonged, often not responding to antibiotic treatments. Too often, infections are treated while the underlying cause is overlooked, leading to recurrent illnesses and leaving patients vulnerable to damage to vital organs, physical disabilities, and even death. PID can also predispose patients to allergies, autoimmune diseases, and cancer.

 

Prevalence

Current diagnoses suggest that 1 in 8-10,000 people has a severe primary immunodeficiency that significantly affects their health and life expectancy. However, experts estimate that the number in the general population could be as high as 1 in 250-500, without these individuals possibly receiving the correct diagnosis and therapy.

 

What is a Secondary Immunodeficiency?

A secondary immunodeficiency is an acquired weakness of the immune system that can arise from various causes. Unlike primary immunodeficiencies, which are genetic, secondary immunodeficiencies result from external factors or other diseases.

 

Causes of Secondary Immunodeficiencies:

• Infections
• Diseases
• Medications
• Malnutrition
• Stress
• Age

Early Diagnosis is Critical

From common infections and fevers to pneumonia and bronchitis, the symptoms of PID come in many different forms. Despite this challenge, diagnosis can be simple and cost-effective. The primary clinical manifestation of immunodeficiency is increased susceptibility to infections. PIDs are often overlooked because they are thought to be common infectious diseases (e.g., sinus/ear infections, atypical febrile illnesses, or bronchitis). If left undiagnosed or poorly treated, PID can have devastating effects on the lives of patients and their families. Recurrent infections are frightening and frustrating and can cause permanent damage to vital organs, resulting in disability or death. Children miss school time, while adult patients are forced to take time off work and may require care workers.

 

Early diagnosis and access to appropriate treatments enable people with PIDs (primary immunodeficiencies) and SIDs (secondary immunodeficiencies) to lead normal productive lives while significantly reducing healthcare costs. The lack of awareness of PIDs and SIDs remains a major issue, and due to this problem, the majority of patients are diagnosed too late.

 

Methods of Detection

A careful history, physical examination, and a simple, inexpensive blood test known as CBC (Complete Blood Count) can identify the majority of patients. However, for precise diagnoses of PID, advanced immunological and genetic tests are required and must be administered by an experienced specialist. An immunologist (familiar with PIDs and SIDs) can help with diagnosis, evaluation, and treatment. For more information or to find such an immunologist in your area, please visit our homepage.

 

Importance of Early Detection and Treatment

Accurate early diagnosis and proper treatment of PIDs and SIDs may:

• Prevent severe complications and tissue damage
• Prevent chronic organ damage
• Decrease morbidity and mortality
• Avoid secondary costs due to illness
• Dramatically improve quality of life.

Know the Warning Signs

A good first step in correctly diagnosing a PID or SID is a simple assessment of the 10 warning signs. There are a number of signs and symptoms of PID or SID. Patients have increased susceptibility to recurrent and persistent infections, varying in severity from ear and sinus infections to lung infections, meningitis, and sepsis. Less commonly, patients with PID may have abscesses in internal organs, lymph nodes, or skin, or infections in their bloodstream.

 

Other Indications

There are certain infections caused by germs that primarily affect immunodeficient patients, in which case the infection-causing pathogen itself may serve as a warning sign for PIDs and SIDs. Patients with PID may also have a variety of autoimmune disorders, rheumatological diseases, or gastrointestinal problems. In some cases, these problems can result from an intestinal infection; in others, they may reflect an autoimmune or inflammatory disorder.

 

Suggested Laboratory Investigations in Case of Recurrent Bacterial Infections

White blood cells with differential count (CBC test)

Determination of the number of lymphocyte subsets

Quantification of IgG, IgA, IgM, IgF

Documentation of infection proneness (patient diary)

Measurement of antibody responses to vaccine components

 

PIDs and SIDs are Treatable

Unlike many other rare diseases, effective treatment options are available that allow many patients with PID and SID to lead normal lives. None of these therapies, however, can reverse the damage of late diagnosis. In undiagnosed or misdiagnosed patients, treatments focus on the frequent and long-term use of antibiotics. Improved diagnosis of PID and SID could therefore have a positive impact on reducing the use of antibiotics, minimizing future infections, improving the use of healthcare facilities, reducing costs, and enhancing the patient's quality of life.

 

A Range of Treatments are Available

The first step in addressing PID is to treat the current infection, which can be done using antivirals, antibiotics, and antifungals. To prevent future infections, patients with antibody deficiency can be prescribed prophylactic antibody replacement therapy, in which the patient receives an infusion of antibodies—so-called immunoglobulins—extracted from human plasma. The therapy is normally administered either intravenously or subcutaneously.

 

If treatment with immunoglobulins is instituted early and tailored individually, antibody replacement therapy is effective in preventing infections and consequent damage due to repeated infections. Infection rates in people undergoing antibody replacement therapy are similar to those in the normal population, and scientific studies have shown significant improvements in patient-reported health and quality of life for patients with PID. Home therapy has been shown to further improve the quality of life for patients and their families.

 

More severe forms of PID may require bone marrow or stem cell transplantation, or even gene therapy, aimed at correcting the immunodeficiency through reconstitution of the normal immune system.