rare disease

Rare Disease Day

Today is the day of Rare diseases

Like every February 28, we celebrate Rare Diseases Day, for this reason we want to tell you a story, at least curious.

Alpha 1 antitrypsin deficiency has been linked to Chopin’s death, and he also followed the path of the ancient Vikings.

The rare disease that followed the path of the Vikings

About 2,000 years ago, in the south of the Scandinavian peninsula, a change in the DNA emerged that was baptized as Z.

Thus, the rest of the European populations began to spread, which then took it with them to the regions they colonized and where they emigrated, such as America, Australia and New Zealand. Today, in fact, what scientists have called the Z allele, seems to have been distributed in a similar way to the settlements carried out by the Vikings themselves during the High Middle Ages, between the 8th and 11th centuries.

Their movements resemble the path that this genetic mutation could follow.

Alpha 1 Antitrypsin Deficiency – “A Rare Disease”

The inherited condition is called alpha-1 antitrypsin deficiency, although the truth is that the name can be misleading; This is due to the fact that not all people with the genetic risk factor have to subsequently develop other serious pathologies. In addition, the low levels of the alpha-1 antitrypsin protein have been known for decades and, unlike what usually happens with rare diseases, there is a simple and inexpensive test for diagnosis and a therapy that receive slightly less than 20% of those affected.

What happen in our body?

This deficit is due to mutations in the SERPINA1 gene, which contains the precise instructions for making this enzyme in liver cells.

Under normal conditions, alpha-1 antitrypsin, once synthesized, travels through the blood vessels to the lungs, where it protects the organs from any external injury or aggression.

¿Are there risks?

Diagnosed patients have low blood levels of alpha-1 antitrypsin (AAT), a protein so important in the body that its deficiency can lead to a lung or liver transplant.

However, in those affected by this hereditary problem, the protein can accumulate in the liver – causing damage such as hepatitis or cirrhosis (without reaching the lungs, which are left bare against toxins such as tobacco).

As a consequence, people who carry this risk factor can develop pathologies such as emphysema or chronic obstructive pulmonary disease (COPD).

How is it diagnosed?

This is an inexpensive and easy test that is not always done …

The Alpha-1 Spain association groups together less than a thousand people diagnosed with this deficit in Spain – of the 12,000 serious cases that could actually exist.

“I was detected severe COPD at age 31. At 36 I had to use oxygen sixteen hours a day, and it was not until two years later that I was tested for alpha 1 antitrypsin deficiency,” he tells one of our patients.

His story is not the only one, because as with other rare diseases, there is an underdiagnosis problem in relation to AAT deficiency.

In other words, it is possible that there are individuals who carry the genetic mutation and present reduced levels of this protein without them knowing it, since visible symptoms do not always occur in clinical practice.

“The test to diagnose the deficit, which costs only 3-4 euros, consists of determining the levels of the protein in the blood.”

Measuring blood plasma levels can be important

The level of the protein in the blood plasma is estimated and, in the case of determining that there is a deficit, more in-depth studies are carried out. But there are few doctors who can think of doing this test.

Based on this test, if a low level of the protein is observed, pneumological controls and genetic studies are carried out to determine the risk of the patient and her family.

The specialists attribute the underdiagnosis to a “subclinical situation”, since not all those affected have diseases, but also to “the great lack of information”.


“Sometimes it is not remembered that a respiratory problem may be due to this deficit, when for the diagnosis it is enough to ask for a protein screening once in a lifetime.”

For this reason, it is important to carry out blood tests in patients with respiratory diseases, and thus continue research, so that advances in science are produced.

Centro Andaluz Alfa-1