Medlineplus diagnose this disease a series of

Medlineplus
(2017) defined Alpha-1 antitrypsin deficiency as a hereditary disease that puts
you at risk for 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 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).

Carter
and Tiep (2008), explained that
Alpha-1 antitrypsin (AAT) deficiency and the deficient amount of circulating
AAT, increases the possibility of a serious lung and liver disease. 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 all over the
world are affected. Detecting this deficiency prior to the development of
severe lung disease is very important due to the fact that early augmentation
therapy 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 keep away from other lung irritants,
improve nutritional practices, participate in daily exercise, use preventive
medical practices to limit disease, and become well-informed about the disease and
the signs and symptoms of exacerbations. (Carter & Tiep, 2008)

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Medline
Plus (2017), states that the signs of Alpha-1 antitrypsin deficiency include shortness
of breath, wheezing, 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).

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 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 mortality risk than never-smokers, and among
the screened cases, the mortality risk for the smokers was significantly higher
than in the general population.

            According
to Anariba’s (2017), article alpha1-antitrypsin deficiency was
first defined 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 submitted to his lab in Sweden. Laurell and
Eriksson then found that three out of five of these patients that had the band
missing on the protein had emphysema at a young age, and some even had a family
history of emphysema. Thus the clinical features of alpha-1 antitrypsin deficiency
were recognized and they included: absence of a protein in the alpha-1 region
of the SPEP, emphysema with early onset, and a genetic predisposition.

Konvalinka
(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 inflammation of the layer of fatty and fibrous tissue
just beneath the outer layers of our skin 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)

The
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 diseaseMU2 ,
the treatment is no different. EMU3 ven
though it is difficult sometimes to arrange the care they need due to safety
and security reasonsMU4 ,
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 therapies for improving the
quality of life for Alpha-1 patients. This organization works closely with the
National Institutes of Health, the Food and Drug Administration, the
people affected by Alpha-1, and the pharmaceutical industry to speed
up the research and improvement of therapies for this disease (Alpha-1 FoMU5 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 is
not a preventable illness but instead a hereditary disease that is 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.

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