Alpha-1 avoid smoke-filled surroundings. These patients should also be





Alpha-1 Antitrypsin Deficiency

Mitchell Clark

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Lutheran School of Nursing










(2017) defined Alpha-1 antitrypsin deficiency as a hereditary disease that increases
the probability of lung and liver disease. Alpha-1 antitrypsin is a protein produced
by the liver that protects 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, 2017).

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. It was originally thought that only people of northern European ancestry
were affected. 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, exercise
more, use preventive measures against the disease, and become well-informed
about the syndrome and the signs and symptoms of exacerbations. (Carter
& Tiep, 2008)

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 way to prevent or delay lung symptoms is to
stop smoking (Alpha-1 Antitrypsin Deficiency, 2017).

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 individuals 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.

to Anariba’s (2017), article alpha1-antitrypsin deficiencies earliest
definition was by Laurell and Eriksson in 1963. Laurell noticed that
there was an absence of a band of alpha1- protein in five of the fifteen
hundred serum proteins that were given to his lab in Sweden. The two 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), began her
research by giving a summary and a description of the deficiency. She goes on
to discuss her research with the matter stating 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 different symptoms. 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.

            A 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.

            Alpha-1 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.