Wegener's Disease Case Study

I have chosen to do this research paper on a very rare disease that directly affected my family. My Husbands Uncle, at the young age of 54, was diagnosed with Wegener’s Disease and survived only six short months from the time of his diagnosis. He was severely ravaged by the disease by nearly every symptom that I will explain further in this research paper.

In 1931 the first case of Wegener’s Disease was discovered by Heinz Klinger, a German medical student (although it was not known as Wegener’s Disease at that time). It was not until several years later in 1936, that three more cases were discovered. A German pathologist, Friedrich Wegener described and found this disorder as a distinct form of Vasculitis, a rare blood vessel inflammation that since the 1950’s has been called Wegener’s Disease Granulomatosis. (http://www.hopkinsvasculitis.org/types-vasculitis/wegeners-granulomatosis/2016)

In 1989, the American College of Chest Physicians awarded Wegener a “Master Clinician” prize, a year before he died. However in 2000, the American College of Chest Physicians discovered that Mr. Wegener had a hidden past that potentially involved

experimental medical practices on Nazi war prisoners, causing them to overturn his Master Clinician prize and a separate campaign began to rename Wegener’s Granulomatosis to Associated Granulomatous Vasculitis or anti-neutrophil cytoplasmic antibodies (ANCAs) even though, it is still today referred to as Wegener’s Disease Granulomatosis is also known as Wegener’s Disease. (https://en.wikipedia.org/wiki/Friedrich_Wegener/2016)(Feder, Barnaby J. (2008-01-22). "A Nazi Past Casts a Pall on Name of a Disease". The New York Times. /2016)

Wegener’s Disease is a rare autoimmune disorder that according to the Vasculitis foundation Wegener affects 1 in 30,000 people and is most commonly found in people between the ages of 45 to 80. Although the cause is still unknown researchers believe it develops after an initial inflammation causing event that leads to an abnormal immune system reaction. (http://www.medicalnewstoday.com/articles/187807.php/2016)

Wegener’s Disease is a condition that causes inflammation in the blood vessels, and the development of abnormal tissue, called granulomas, that can destroy normal tissue. The combination of the vasculitis and the granulomas causes poor blood flow to the organs, and causing permanent organ damage. The areas most commonly affected are the upper respiratory tract (sinuses, nose, ears, and trachea or “windpipe”, lungs, and kidneys. If a patient’s kidneys, brain, or gut are not involved they are said to have limited Wegener’s Disease. The term limited has become unlimited because some forms of the illness can still be very serious even though these organs are not involved.
(http://www.diseaseinfosearch.org/Wegener's+granulomatosis/7459/2016)

The symptoms of Wegener’s Disease can be slow moving, or fast and furious.

Most patients may begin with symptoms of a runny nose, cold or sinusitis that continue to persist longer than normal upper respiratory infections and fail to respond to therapeutic measures. Even though, not all patients experience all of the symptoms, the severity of the disease is different for each patient. Other symptoms can include: arthritic joint pain, blood in urine, cough (with or without presence of blood), fever, inflammation of the ear with hearing problems, inflammation of the eye with vision problems, lack of energy, loss of appetite, nasal membrane ulcerations and crusting, night sweats, numbness of limbs, pleuritis (inflammation of the lining of the lung), rash and/or skin sores, saddle-nose deformity, weakness, fatigue, and weight

loss.
(http://www.vasculitisfoundation.org/education/forms/granulomatosis-with-polyangiitis-gpa-wegeners/?gclid=CKPL1t-q58sCFQ8yaQodyPYI3Q/2016)

Diagnosis of Wegener’s Disease is done by clinical and laboratory testing results such as Antineutrophil Cytoplasmic Antibody (ANCA) blood test, further blood and urine test, x-rays, and a tissue biopsy. Antineutrophil Cytoplasmic Antibody is an abnormal protein that is part of a large family of molecules called immunoglobulins, which include antibodies, made by animals normally intended to protect you. There are two kinds of Antineutrophil Cytoplasmic Antibody: ‘c’ (cytoplasmic), and ‘p’ (perinuclear). A great majority of patients with GPA/Wegener’s Disease test positive for c-ANCA while a small percentage of patients test positive for both ‘p’-and ‘c’- ANCA. c-ANCA reacts with a normal human enzyme contained in white blood cells (called proteinase 3 or PR3), and has a yellow-green pattern in the cell fluid called the cytoplasm, hence the term c-ANCA. The quantity of c-ANCA roughly associates with disease activity. Very rarely, c-ANCA can be found in other diseases and even in some normal individuals. The c-ANCA/PR3 antibody test is a helpful diagnostic tool that is used most effectively when patients are thought to possibly have GPA/Wegener’s Disease. A positive test is supportive of the diagnosis. However, occasionally the test is negative but GPA/Wegener’s Disease is present. Some physicians use the ANCA test to monitor treatment and disease status. Unfortunately, test results by themselves do not always indicate that the disease is active, so physicians cannot use them as the primary guide to decision making about treatment. Decisions to change treatment should be based on convincing features of GPA/Wegener’s Disease activity or remission, and appropriate laboratory tests including urinalysis.
(http://www.vasculitisfoundation.org/education/forms/Granulomatosis/ 2016)

According to The Vasculitis Foundation treatment for Wegener’s Disease can be divided into two stages. The first stage is the induction of disease remission, and the second stage is the maintenance of disease remission. The medications that are used to treat this disease includes glucocorticoids (prednisone), rituximab, which is a so called biologic drug, cyclophosphamide (a chemotherapy or cytotoxic medication), methotrexate, azathioprine (Imuran), and mycophenolate mofetil (CellCept). Treatment varies based on symptoms of disease activity, organ involvement and laboratory test results. Patients who have kidneys affected by the disease and have more severe GPA/Wegener’s Disease are commonly prescribed a high dose of prednisone in combination with rituximab or cyclophosphamide as an initial treatment. Cyclophosphamide has a limited use of a three to six month period and is replaced with methotrexate or azathioprine or mycophenolate mofetil based on kidney function. For effective treatment it is necessary for a patient with organ involvement to see a team of specialist: Nephrologist (Kidney), Otolaryngologist (Ear, Nose/Sinus, Throat), Ophthalmologist (Eye), Pulmonologist (Lung), and a Rheumatologist or Immunologist. Other specialists may also be involved as needed. It is very important to have a continuous long-term doctor follow ups. There is no cure for Wegener’s Disease, however with early diagnosis and proper treatment symptoms can be reduced and improving quality of life and life expectancy. Remission is possible with complete absence of all signs of disease. Long-term remission can be maintained with medications, close management and regular laboratory test. Relapses are common but if caught early at most treatable stage. With treatment patients can live symptom free for 5 to 20 years. (http://www.vasculitisfoundation.org/education/forms/granulomatosis-with-polyangiitis-gpa-wegeners/2016)

Treatment for Wegener’s Disease has come a long way. Medical communities believe that this disease is not so rare, but it is rarely diagnosed. There are patients who are diagnosed and treated in areas where doctors are more aware of the disease. The mortality rate for patients with Wegener’s Disease in 1958 was an 82% rate at one year, and had an average survival of five months. By the 1970’s the treatment of cyclophosphamide and prednisone in combination was introduced and changed the course of treatment remarkably. This new treatment improved survival rates to over 90%, even though treatment side effects and the drug toxicity posed new challenges. (http://www.vasculitisfoundation.org/education/forms/granulomatosis-with-polyangiitis-gpa-wegeners/2016)

Further advancement in treatment today involves the availability of rituximab (Rituxan), developed by researcher Nabil Hanna and coworkers at IDEC Pharmaceuticals, in 2008, under the name IDEC-C2B8, which the FDA did not release in the United States, until April 19, 2011. Rituxan in combination with glucocorticoids (steroids) treat patients with Wegener’s Disease Granulomatosis and microscopic polyangitis, which are two rare disorders that cause blood vessel inflammation.
(http://www.wow.com/wiki/Rituxan#History/2016) (http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm251946.htm/2016)

In closing, I will simply say that advances in medications are critical to the health population of the world and should be made available under swifter terms. My Husbands Uncle passed away on April 3, 2011. After the research I have done on this rare disease, my husband’s family is only left to speculate and wish that this medication had been made available sooner to their Son, Brother, Father, Uncle and friend ~ In Memory of Donald Ray Ladner