Alpha-1 antitrypsin deficiency as a hereditary disease that





Alpha-1 Antitrypsin Deficiency

Mitchell Clark

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Lutheran School of Nursing










Medlineplus (2017) defined Alpha-1 antitrypsin deficiency as
a hereditary disease that increases the chances of lung and liver disease.
Alpha-1 antitrypsin is a protein that the liver produces in order to protect
the lungs. If these proteins are not the correct shape, they will get trapped
inside the liver cells and are not able to reach the lungs in order to
safeguard them which is how Alpha-1 antitrypsin deficiency occurs (MedlinePlus,

and Tiep (2008), explained that
Alpha-1 antitrypsin (AAT) deficiency and the deficient amount of circulating
AAT, increases the possibility of a serious disease that affects the lung and
liver. Originally it was thought that only people of northern European ancestry
were plagued by this illness. However that was not the case because it isMU1  now known that people are affected
all over the world. Detecting this deficiency prior to the development of
severe lung disease is very important due to the fact that if therapy is
started early it might limit the deterioration of organ function. The patients
with this disease should immediately stop smoking and avoid smoke-filled surroundings.
These patients should also be told to avoid lung irritants, have better diets, workout,
use precautionary methods against the disease, and become well-informed about
the condition and the signs and symptoms of exacerbations. (Carter
& Tiep, 2008)

Medline Plus (2017), states that the signs of Alpha-1
antitrypsin deficiency include shortness of breath, wheezingm2 , repeated lung infections, tiredness,
rapid heartbeat upon standing, vision problems, and weight loss. However, some
people do not develop symptoms or any complications at all. In order to diagnose this disease a
series of blood tests and genetic tests are used for diagnosis. The treatments
for this disease include medicine, pulmonary rehab, extra oxygen, and if severe
enough a lung transplant. The best approach to prevent or delay lung symptoms
is to stop smoking (Alpha-1 Antitrypsin Deficiency, 2017).

According to
Stoller (2017), Alpha-1 Antitrypsin Deficiency is controlled through genetic
testing and counseling. Once someone is diagnosed with this disease it is
important to have the rest of the family tested. This disease is inherited, and
family members of these patients are
at a higher risk for having Alpha-1 antitrypsin deficiency and for developing
associated diseases. These individuals should be counseled on
smoking cessation and careers that involve less dust exposure. Tanash, Nilsson, Nilsson, and
Piitulainen (2010), published a study where 315 people with AAT
were studied and 24% of them died. The smokers in this study had a higher risk
of death than those who have never smoked, and among the cases that were
screened, the rate of those that died was significantly higher in smokers than
in the general population.

According to Anariba’s (2017), article
alpha1-antitrypsin deficiencies earliest definition was by Laurell and Eriksson
in 1963. Laurell noticed that there was not a band of alpha1-
protein in five of the fifteen hundred serum proteins that were given to his laboratory
in Sweden. Both scientist then found that three of the five patients that had
the band missing on the protein had emphysema when they were younger, and some
even had a family members who also had emphysema. Thus the symptoms of alpha-1 antitrypsin deficiency
were recognized and they included: that there was no protein in the alpha-1 section of the SPEP, emphysema that
presents itself at an early age, and a family history of this disease.

(2010), debated the implications for having Alpha-1 Deficiency and the
difficulties associated with it. This article is about the author’s work with
panniculitis, which is an infection of the layer of fatty and fibrous tissue layers
of our epidermis that people with the AAT deficiency sometimes get. According
to Konvalinka (2010), the inflammation is located beneath the skin in a
honeycomb shape. She declared that the honeycomb pattern of fat below the skin might
be produced by the absence of the Alpha-1 protein. Konvalinka (2010), started
her study by giving a brief overview of the deficiency. She goes on to argue that
panniculitis associated Alpha-1 deficiency differs from typical panniculitis.  She stated that the AATD Panniculitis usually
occurs in young adults and starts with painful nodules usually on the thigh or
the buttocks, but can occur anywhere on the body, which are warm, red, and
tender. (Konvalinka, 2010, p. 24)

research findings of Konvalinka (2010), could be crucial in a clinical setting due
to the fact that Alpha-1 Deficiency could present with a similar diagnosis as somebody
who does not have the deficiency but may have other indicators of a disease. The
differences among the two types of panniculitis are vital for those in the
medical field to differentiate. Not only in the case of panniculitis, but in
order to recognize that people with the AAT deficiency may show different signs
and symptoms than those without the absence of this protein. Early recognition
and diagnosis of this disease is of the up most importance. Konvalinka (2010),
went on to discuss new improvements in accessibility of testing for the deficiency
and some of the available treatments for it, such as plasma exchange and antibiotics
to control the panniculitis. The research article concluded by pointing out
that difficulties related to the alpha 1 deficiency, like panniculitis, are
sometimes the only way to be tested for a protein deficiency. This is a great
way for those working in the medical field to better understand those living
with the deficiency. Doctors and nurses need to be more aware of this protein
deficiency, due to the fact that patients in their care could be carriers or be
affected with the disease.

personal interview with Amy Wallen, a nurse practitioner who used to work at
Washington University in the renal division, was an excellent source of information
on the subject. She said that, “This disease stood out to me more than others
because it took a patient who was otherwise young and healthy and took them to
the point of a debilitating illness.” (Personal communication, November 20th,
2017) Amy now works in a correctional facility in Farmington taking care of
patients. Though she has only had a few patients in the prison with this diseaseMU3 ,
the treatment is no different. EMU4 ven
though it is difficult sometimes to arrange the care they need due to safety
and security reasonsMU5 ,
there has never been a time when a prisoner in need was not given the help he
needed. When asked what treatment she believes is the most effective she
states, “I think the most effective way to treat the disease is to prevent
complications by treating problems early, avoiding alcohol, smoke and
pollutants and make yourself knowledgeable of the common problems that can
occur.” It is important to have knowledgeable medical professionals like Amy in
order to take care of these patients in the best way possible.

Foundation (2017), stated one of the best ways that patients can cope with this
disease is to join a support group and to talk with people who are going through
some of the same problems. One of the main ways patients get into contact with
a support group is through this foundation. This foundation not only helps
people get into contact with a support group, but also promotes research and
the advancement of new treatments and the improvement of the quality of life
for Alpha-1 patients. This organization works with the National Institutes of
Health, the Food and Drug Administration, the people plagued by
Alpha-1, and the pharmaceutical industry to speed up research and
improvement of therapies for this disease (Alpha-1 FoMU6 undation, 2017).
Organizations like this are a great help to society, not only do they help
those in need but also further scientific research while doing so.

In conclusion Alpha-1 antitrypsin
was never a preventable illness but instead a hereditary illness that was
present from birth to death.  If these
proteins are decreased complications arise such as COPD, emphysema,
pancreatitis and liver disease. There is hope for the people affected with the
disease though. Organizations like the Alpha-1 Foundation and knowledgeable
medical staff such as Amy Wallen impact and benefit the population. They both
hope to serve by gaining more knowledge and constantly seeking new treatments
and options for those living with the deficiency. Even though through treatment
and counseling this disease is manageable it is still a heavy burden to place
on a family. Patients rely on their families for support and guidance. It is
important for medical professionals to be competent on the disease process.
Coping with Alpha-1 Antitrypsin Deficiency can be difficult, but through
perseverance and treatment this disease will not define the patient’s life.













Works Cited

foundation  (2017).  About
Us. from Foundation/About-Us

Anariba, D.
E., MD. (2017, June 21). Alpha1-Antitrypsin Deficiency. Retrieved  from

Carter, R., & Tiep, B. L. (2008). Patients with
Alpha-1 Antitrypsin Deficiency. Disease
Management & Health Outcomes, 16(5), 345-351.

P. (2010). Alpha 1 antitrypsin deficiency panniculitis. Dermatology Nursing. 22(6) 23-25.

MedlinePlus. (2017, November), Alpha-1 Antitrypsin
Deficiency Alpha 1 Antitrypsin. Retrieved from

Stoller, J. K. (2017). Alpha-1-Antitrypsin Deficiency:
Epidemiological Studies and Other AAT Associated Diseases. Alpha-1-antitrypsin
Deficiency, 133-158.

Tanash, H.
A., Nilsson, P. M., Nilsson, J., & Piitulainen, E. (2010, April 26).
Survival in severe alpha-1-antitrypsin deficiency. Retrieved from