We celebrate the European day Alpha 1
Alpha 1 Deficiency as a rare disease
Alpha-1 antitrypsin deficiency (AATD) is one of these rare conditions that can significantly affect health and affect the quality of life of those who suffer from it.
The population most at risk of serious complications needs special measures to prevent or reduce serious diseases and mortality.
Paradigm shift
Rare diseases are often a topic that is rarely discussed in society due to their relatively low prevalence.
The burden of such conditions is not about numbers, but about a person’s life, which can be significantly affected by delayed diagnosis and limited access to treatment.
Diagnosis and treatment
Without proper treatment and care, patients may have a shortened life expectancy and suffer severe shortness of breath, immobility, recurrent hospital admissions, and may eventually require a lung transplant.
In addition to causing serious lung disease in adults, AATD can also cause liver damage in adults and children who may also require a liver transplant, and that is why today we want to publicize this chronic and inherited disease.
European Day Alpha 1
Today, April 25, 2021, we want to publicize this very common disease in individuals of Iberian and Northern European descent.
Despite its prevalence in Europe, patients and healthcare providers remain misinformed about the disorder, and therefore an overwhelming number of people are misdiagnosed as Alpha-1 patients.
In search of the cure
Currently, Alpha-1 has no cure, however, there are treatments developed to coexist with this disease.
Moving forward
One of the most progressive treatments for Alpha-1 affected patients is plasma-derived therapy to restore the normal level of AAT, which slows the progression of lung damage and cures panniculitis of the skin.
Policies on Alpha-1 Diagnosis, Treatment, and Care
Policies vary across Europe, as each country has its own healthcare system and policy for rare diseases.
Despite the promising results and cost-effectiveness of augmentation therapy, only a few countries reimburse the treatment, fortunately Spain is one of them.
Recommendations
Without timely diagnosis and proper treatment, the lives of many patients are at risk. Currently, AATD is a largely underrecognized and therefore underdiagnosed condition that requires immediate action by member state governments to improve the lives of those affected.
Together with the European Alpha-1 Awareness Day and through the Recommendations of the European Alpha-1 Expert Group, the following is provided:
Recommendations for Policy Makers
- All Member States should develop an Alpha-1 diagnosis programme in their rare disease plan. The European Commission should develop a project to generate minimum credentials for Alpha-1 centres of excellence.
- National paying agencies should develop reimbursement decisions by distinguishing Alpha-1 patients who are either those with rapid or non-declining lung function.
- National governments should ensure that legislation does not deter individuals from genetic testing for rare diseases by ensuring that non-symptomatic patients do not have higher insurance premiums.
Recommendations for Healthcare Professionals (HCP)
- HCPs should consider a diagnosis of Alpha-1 in patients with COPD, emphysema, adult onset bronchial asthma, bronchiectasis, unexplained liver disease, panniculitis, unexpected vasculitis and any patients with a family history of Alpha-1.
- Centres of excellence should work through networks such as the European Reference Networks to share expertise, refer patients and educate healthcare professionals across Europe.
Recommendations for Individuals and Carers
- If you have unexplained symptoms of lung, liver or skin disease, ask your doctor to be tested for Alpha-1.
- Alpha-1 patients should adjust their lifestyles to reduce the chance of the onset, or aggravation of lung, liver or skin disease.
- Alpha-1 patients and carers should seek support from the patient and/or support groups.
