AAAAA
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46 y/o white male with right 2nd and 3rd MCP joint pain and swelling.
What is the diagnosis and what test would you do ?
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| yasmeen
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RHEUMATOID ARTHRITIS.RA FACTOR AND ESR.
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| guayoman
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Remember RA has symmetrical involvement of joints. Right sided 2nd and 3rd MCP could be Osteoarthritis depending on his occupation or activities. Remember that the right hand is the most abused part of the body (please do not include sexual connotations).
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| AAAAA
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The answer is HHH
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| AAAAA
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The answer is HHH. Here is the radiograhic findings
Attached Files:
slide2.jpg (60 KB, 5 downloads)
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| AAAAA
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HHH affects the 2nd and 3 MCP joints and HHH is the msot common genetic inheritance disease
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| AAAAA
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The patient is a 54 y.o man who presents to his primary care physician complaining of a loss of libido and progressive joint pain and stiffness in his hands. He also reports that his family and colleagues have noted a change in the color of his skin over the last year. Routine laboratory testing reveals a blood glucose level of 198, and abnormal liver function tests. Physical examination reveals a moderately enlarged liver, subtle cutaneous hyperpigmentation, and degenerative changes at the MCP joints bilaterally. Recalling a similar case in the past, the physician ordered a complete iron panel which showed a markedly elevated serum transferring saturation and an increased ferritin level. Plain radiographs of the hands and a CT scan of the abdomen were promptly performed.
Radiographic Films will be discussed below.
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| AAAAA
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Radiographic Findings
Radiographs of the hands reveal degenerative changes at the 2nd and 3rd MCPs bilaterally (red arrows), with “beak” shaped osteophytes (yellow arrows) noted on the radial aspects of the metacarpal heads. A CT scan of the abdomen demonstrated an enlarged and radiodense liver.
Film 1
Film 2
Film 3
(top of page)
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| AAAAA
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Film 1
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slide1a.jpg (17 KB, 5 downloads)
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| AAAAA
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Film 2
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slide2a.jpg (22 KB, 4 downloads)
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| AAAAA
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Film 3
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slide3.jpg (76 KB, 3 downloads)
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| AAAAA
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Very Common, Yet Virtually Unknown
Potentially Fatal, Yet Easily Treatable
Hemochromatosis - Canada's Most Common Genetic Disorder
Hereditary Hemochromatosis (HHC) is the most common genetic disorder affecting Canadians. It is a crippling, potentially fatal condition caused by a defect of iron metabolism that leads to iron overload in vital organs, joints and tissues. The complications caused by the disorder are preventable if a diagnosis is made before the excess iron causes irreversible damage, and effective treatment exists.
Our Purpose
The Canadian Hemochromatosis Society was established to create awareness about this little-known, but common disorder so that early diagnosis would become the rule rather than the exception and needless suffering and premature death from undiagnosed hemochromatosis would become a thing of the past. In the meantime, we are here to provide information and support to those adversely affected by iron overload.
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Featured Resource
Medifocus Guide to Hereditary Hemochromatosis is a highly recommended resource for the person with Hereditary Hemochromatosis. Each guide has current and relevant Hereditary Hemochromatosis research organized into categories for easy reading. Free updates are provided for 1 year. The Medifocus Guide also provides an international Hereditary Hemochromatosis
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| AAAAA
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Sandra Thomas , at the age of 8, who is now President/Founder of the American Hemochromatosis Society, with her mother, Josephine Bogie Thomas, who was the inspiration for the organization. Josephine died from the common genetic disease, hereditary hemochromatosis, on May 13, 1999.
In the early 1920's, when my mother was a child, the Human Genome Project and the study of genetics was a concept that was reserved for the future. Little did Josephine know that she would be a part of that future because she was born with two gene mutations for a disease called hereditary hemochromatosis (HH)/ iron overload disease. This genetic condition is the most common genetic disease in the USA according to the Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia and affects an estimated 1 in 8 people as "silent carriers" and 1 in 100 to 200 people with the full blown disease. Unfortunately, my moither died from hemochromatosis complications on May 13, 1999 in Pittsburgh , Pennsylvania where she had gone for medical treatment to try to save her life. She wanted everyone to know that hemochromatosis can cause many medical problems including arthritis, chronic fatigue, diabetes, impotence, infertility, liver failure, liver cancer, heart attacks, and the need for heart or liver transplants. All of these complications can be avoided through frequent blood donation, which is the treatment of choice by doctors for hereditary hemochromatosis. It was her dying wish that everyone be tested for hemochromatosis. With a new do- it-yourself DNA genetic home test kit, anyone can order the painless test and use it at home on adults or children. As president and founder of the American Hemochromotosis Society www.americanhs.org, a non-profit 501c3 health organization which helps victims of hemochromatosis, I urge everyone to test themselves for hemochromatosis and to consult with your physician and the American Hemochromotosis Society about your results. For information, please contact the American Hemochromotosis Society, 4044 W. Lake Mary Blvd., PMB 416, Lake Mary, Florida 32746-2012; call toll free 1-888-655-IRON (4766); www.americanhs.org and HealthcheckUSA at 1-800-929-2044 or go to: www.healthcheckusa.com Mom, it has been seven long years since hemochromatosis stole your precious life from us. You will be "Forever in our hearts". You are our "Iron Angel". Until we meet again. Love, Joe, your husband; Sandra, your daughter; and David Snyder, your friend.
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| AAAAA
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The most common genetic disease in Canada:
Hereditary Hemochromatosis (same as in USA )
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| AAAAA
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Rheumatoid Arthritis is a symmetrial, small joints (minimal three) affecting the patient for a minimal of 6 weeks before you can make the diagnosis.
A man or woman with 2nd and 3rd MCP joint unilaterally is HHC hereditary hemochromatosis !!
The most common genetic disease in Canada and USA !
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| AAAAA
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It is very interesting to point out I knew a man who gives blood every 2-3 weeks for the last 40 years. He is almosts 60 years old. I wonder whether he has hereditary hemochromatosis !
One of the most effective treatment of HHC is donation of blood !!!
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| AAAAA
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"It was her dying wish that everyone be tested for hemochromatosis in Canada and America" !
Anyone with an elevated serum transferrin saturation and elevated ferritin should rule out HHC !!
This is an initial screening test for HHC !!
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| AAAAA
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Dr. Yasmeen,
The more definite test for Rheumatoid arthritis is CCP antibodies !!! (Not RA factor or sedit rate in June, 2006 ! Medicine advances so much we can not keep up with it ! It may be in the exam CCP antibodies for RA rheumatoid arthritis !)
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| AAAAA
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Anti-CCP antibodies measured at disease onset help identify ...Anti-cyclic citrullinated peptide (anti-CCP) antibodies have been identified as highly specific for rheumatoid arthritis (RA). ...
rheumatology.oxfordjournals.org/ cgi/content/full/45/4/478 - Similar pages
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| AAAAA
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Anti-CCP antibodies measured at disease onset help identify seronegative rheumatoid arthritis and predict radiological and functional outcome
Objective. Anti-cyclic citrullinated peptide (anti-CCP) antibodies have been identified as highly specific for rheumatoid arthritis (RA). Studies suggest an association with radiographic outcome. The aims of this study were to assess the diagnostic and prognostic utility of the second-generation anti-CCP2 test in a large cohort of early RA patients compared with connective tissue disease (CTD) controls.
Methods. One hundred and eighty-two patients with RA and 121 patients with CTD were recruited. All RA patients had less than 24 months of symptoms and had CRP, rheumatoid factor (RF), HLA typing (SE) and anti-CCP2 antibodies measured at baseline. Function was assessed using the Health Assessment Questionnaire (HAQ) and X-rays performed at 0, 12 and 24 months.
Results. The anti-CCP2 antibody test demonstrated a specificity of 91% and sensitivity of 81% for RA when compared with controls. In RF-negative patients, specificity was 92% and sensitivity 60%. Baseline demographics of the RA cohort showed mean age 57 yr, mean symptom duration 7 months, 63% RF-positive patients, 72% SE-positive, 81% CCP-positive and 21% erosive. The only predictor of change in Larsen score from 0 to 24 months in the cohort was the presence of the shared epitope (P<0.05) and in the RF-negative subgroup it was CCP2 antibody titre >100 (P<0.05). Baseline HAQ was the only significant predictor of HAQ at 24 months, but in the RF-negative subgroup CCP2 antibody titre >100 predicted a poor functional response at 24 months (P<0.05).
Conclusions. This study confirms the diagnostic utility of anti-CCP2 antibodies in early RA, particularly in seronegative patients, in whom anti-CCP2 positivity also conferred prognostic utility for radiographic and functional outcomes.
KEY WORDS: Anti-CCP antibodies, Early rheumatoid arthritis
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