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A case study of Wegener’s granulomatosis
Sarah Breech
3-17-2015
Abstract:
The paper starts by describing what Wegener’s granulomatosis is, and its’ signs and symptoms. It then
delves into the genetic and environmental factors that contribute to the particular cause of the disease.
Continuing on, a case study is presented including the signs and symptoms of the patient, how their
diagnosis was made, and the treatment options that were available, including the one they chose.
The objective of this paper was to provide a short literature review about a particular medical condition,
including condition, etiology, and prognosis. These details were then related to a case study either
based on personal experience, or based on a made up scenario.
Disclaimer:
The purpose of writing is to fulfill course requirements for BBH 411W and to stand as a personal writing
sample, but the findings should not be treated as generalizable research.
Wegener’s Granulomatosis, recently termed Granulomatosis with polyangiitis, is a rare
autoimmune disease which affects your blood vessels, particularly in your nose, sinuses, ears, lungs, and
kidneys¹. It affects the blood vessels by causing inflammation, which restricts blood flow to the kidneys,
lungs, and upper respiratory tract². In most cases, symptoms occur within the respiratory tract first, and
the kidneys second, if not diagnosed early². Signs and symptoms that lead to recognition of Wegener’s
include; constantly runny nose, nosebleeds, sinus pain and inflammation, ear infections, cough,
coughing up blood, shortness of breath, general feeling ill, unintended weight loss, joint aches and
swelling, blood in urine, skin sores, fever, and eye redness, burning or pain². If not treated within a few
months, Wegener’s may lead to kidney failure, anemia, or death².
Being that Wegener’s is a rare disease to contract, it is no surprise that the cause of the
condition is unknown. No evidence has been found that can directly link any genetic markers,
environmental agents, or microorganisms to causing the disease process³. However, some studies being
done are beginning to potentially determine some risk factors. For instance, it has been found that a1antitrypsin deficiency, an inherited disorder that may cause lung and liver disease, is a common genetic
susceptibility, as well as environmental exposure to crystalline silica (asbestos) ⁴. Inhalation of asbestos
usually occurs from occupational exposure, but can sometimes occur within the walls of a home.⁵
Another environmental influence that has been determined a potential risk factor of relapse is the
carriership of Staphylococcus aureus⁶. This is thought to be a risk factor because it causes a disregulated
immune system and frequent nasal lesions⁷. Although researchers are beginning to determine possible
genetic and environmental risk factors, a major gap exists in the understanding to which both factors
contribute to the disease⁴. The rarity of this condition is deemed 3 cases per 100,000 people³. In
Germany specifically, the rage is anywhere from 8 to 12 people per 1,000,000 ⁶. The age range at which
symptoms present themselves is very large at 9 to 78 years, with the mean age at 41³. Wegener’s
predominantly affects Caucasians and affects both men and women equally³.
Kyle, an 84 year old Caucasian male, was diagnosed with Wegener’s three years ago after feeling
ill for a few months. He presented with a runny nose and nose bleeds, shortness of breath, sinus
congestion, weakness, and a general feeling of illness around Thanksgiving of 2011. He went to his
primary physician around the holidays, where he was diagnosed with a sinus infection and prescribed
medicine. The amoxicillin he was prescribed sent him to the emergency department because it was not
to be mixed with another of his medications. While in the emergency department, he began to have
coughing fits, including coughing up blood. Along with his symptoms above, an MRI showed lesions on
his lungs. It was a mysterious illness, the doctor’s had thought, because his lesions had shrunk after
being given prednisone. Kyle remained in the hospital for three weeks before a diagnosis was
determined. Luckily, lumps developed on his neck, where they were able to do a semi-noninvasive
biopsy. After, the doctors had come to a conclusion on his diagnosis. Based on his symptoms and due to
the fact he had been exposed to crystalline silica throughout his lifetime, and because he was a carrier
of MRSA, which is a form of Staphylococcus aureus, they diagnosed him with Wegener’s granulomatosis.
Individuals diagnosed with Wegener’s can generally have a normal life, with the exception of
having numerous check-up appointments. These appointments are necessary for laboratory studies,
imaging tests, and clinic visits, which are essential to monitor and prevent reoccurrences ⁸. Treatment is
necessary because individuals with this disease can die within a few months if not treated¹. Relapse is
common in about fifty percent of patients, usually after two years of being diagnosed, or for some
individuals it may be a permanent condition¹. Several comorbidities can occur if diagnosed with
Wegener’s. These include hearing loss, skin scarring, heart attack, kidney damage, and anemia². For the
most part, Wegener’s does not negatively impact your quality of life because with treatment you’re
likely to recover².
There are several treatments that can be used to influence the prognosis of Wegener’s.
Corticosteroids, such as prednisone, are used as a maintenance device to suppress the immune system
and treat the early signs and symptoms. Immune suppressant medications may also be needed in other
patients. These include cyclophosphamide, azathioprine, and methotrexate. Finally, biological therapy is
relatively new and in certain cases has been proven to be more effective. Rituximab reduces the number
of B cells within the body, which influence inflammation. It is approved by the FDA, and is most effective
in patients with severe cases. It is important for doctors to monitor your condition while taking the
drugs because they lower the body’s ability to fight off infection and they may cause other
complications such as lung infection, bone loss, and depletion of folate².
Works Cited
1. Medline Plus. (2013, March 3). Wegener's Granulomatosis. Retrieved February 5, 2014, from
MedlinePlus: http://www.nlm.nih.gov/medlineplus/ency/article/000135.htm
2. Staff, M. C. (2012, December 2009). Wegener's Granulomatosis. Retrieved February 5, 2015,
from Mayo Clinic: http://www.mayoclinic.org/diseases-conditions/wegenersgranulomatosis/basics/definition/con-20028113
3. Lawrence Weeda, S. C. (2008). Wegenner's Granulomatosis. Oral and Maxillofacial Surgery
Clinics, 643-649.
4. AD Mahr, T. N. (2006). Epidemiology of Wegener's granulomatosis: Lessons from descriptive
studies and analyses of gentic and environmental risk determinants. Clinical Experimental
Rheumatology , 82-91.
5. National Cancer Institute. (2009, May 1). Asbestos Exposure and Cancer Risk. Retrieved March
17, 2015, from National Cancer Instisute at the National Institutes of Health:
http://www.cancer.gov/cancertopics/causes-prevention/risk/substances/asbestos/asbestosfact-sheet
6. Julia Holle, E. C. (2008). Wegener Granulomatosis. Diagnostic Criteria in Autoimmune Diseases,
99-102.
7. Eliane R Popa, C. A. (2001). Staphylococcus aureus and Wegener's granulomatosis. Arthrisitis
Research , 77-79.
8. American College of Rheumatology . (2015, February 8). Granulomatosis with Polyangiitis .
Retrieved June 2012, from American College of Rheumatology:
https://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_Conditions/Granuloma
tosis_with_Polyangiitis_%28Wegener_s%29/