Why does hemochromatosis cause arthritis

This is likely due to the fact that over their lifetime, men do not regularly lose blood through regular menstruation or go through child birth where there can be significant blood loss.

If high levels of iron are sustained over a long period of time, iron can be deposited into organs e. There is no way to tell whether iron will be stored in organs or joints, although organs seem to be affected more often. Arthropathy has been increasingly recognised as an early manifestation and the predominant clinical factor affecting the quality of life of patients with haemochromatosis.

Recent data confirms the high prevalence of joint symptoms in haemochromatosis predating the diagnosis by many years. For example, a study found a diagnosis of haemochromatosis was made at a mean age of In this particular study, the most common affected joints were in order finger and hand joints, knee, hip and ankle 1. Venesection is very effective at reducing iron levels, and indirectly allows for any damaged organs to heal. A venesection removes blood from the body which triggers bone marrow to make more red blood cells RBCs.

Iron, among folate and B12, is an important ingredient in making new RBCs. This is why early detection is so important. People with joint damage often have ongoing pain, stiffness and difficulties using their joints — it is very similar to a typical osteoarthritis OA presentation. Damage to joints from HH usually require similar, if not the same, treatment as non-haemochrotic arthritis i.

Arthritis caused by haemochromatosis rarely causes severe disability but, when it does, surgery to replace joints may be necessary. Have a listen to Desma and her story. Produced by Haemochromatosis Australia, this short clip provides valuable insight into how HH can cause arthritis and potential outcomes. Here is a link to a case study paper. It includes the case study two demographically different people and their outcome.

Screening for the disease is simple, and early diagnosis and treatment can prevent the development of serious, irreversible complications. Because of the overlap of joint distribution, patients thought to have seronegative RA may be proved with iron and DNA testing to have hemochromatosis arthritis. RA and hemochromatosis can coexist, complicating the diagnostic picture. The radiographic and physical findings in a given joint affected by hemochromatosis arthritis may be similar to those in OA, but the distribution of joints affected assists in distinguishing the diseases.

Radiographically, the presence of chondrocalcinosis may suggest hemochromatosis arthritis. In the hips, where chondrocalcinosis is unusual and both diseases are common, distinguishing between the 2 may be extremely challenging.

CPPD disease. Differentiating between idiopathic CPPD disease and hemochromatosis arthritis is perhaps the most challenging. The diseases share many features, including chondrocalcinosis, radiographic appearance and, to a large degree, the distribution of affected joints. Radiographically, CPPD in the wrist is more likely to cause scapholunate dissociation a loss of the normal anatomical articulation of the ulnar aspect of the scaphoid with the radial aspect of the lunate, manifesting as a malalignment of these bones on an anteroposterior projection.

Although hemochromatosis arthritis often affects the second and third MCP joints, it has been reported to affect the fourth and fifth MCP joints more frequently than does idiopathic CPPD disease. A hook or beak shape in osteophytes on the radial aspect of the carpal heads also suggests hemochromatosis. Treatment Arthropathy often does not improve after iron depletion therapy, and persistence of joint symptoms is often detrimental to patients' quality of life.

Acute episodes of arthritis may signal acute inflammation with deposition of CPPD crystals. Treatment is the same as that used for acute pseudogout a potent NSAID, colchicine, or an intra-articular corticosteroid. Joint fluid aspiration should be performed to look for the presence of CPPD crystals and exclude infection. Some patients who experience CPPD crystal deposition may benefit from long-term, low-dose colchicine 0.

Intra-articular infusion of hyaluronic acid may be somewhat more effective in joints with crystals. Edwards CQ. Wintrobe's Clinical Hematology. In press. Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med. Estimate of the frequency of morbid complications of hemochromatosis. Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment.

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Screening for hemochromatosis: recommendation statement. Ann Intern Med. Hemochromatosis and iron-overload screening in a racially diverse population. Serum ferritin level predicts advanced hepatic fibrosis among US patients with phenotypic hemochromatosis.

Reduced leucocyte alkaline phosphatase activity and decreased NBT reduction test in induced iron deficiency anaemia in rabbits. Br J Haematol. Anemia and iron kinetics in alcoholism. Semin Hematol. Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases.

Hemochromatosis: genetic or alcohol-induced? Bullen J. Bacterial infections in hemochromatosis. Hemochromatosis, iron and septicemia caused by Vibrio vulnificus. Arch Intern Med. Arch Pathol Lab Med. Clinical infections of Vibrio vulnificus: a case report and review of the literature.

J Emerg Med. Congestive cardiomyopathy and haemochromatosis-rapid progression possibly accelerated by excessive ingestion of ascorbic acid. Aust N Z J Med. Nienhuis AW. Vitamin C and iron.

Homozygosity for hemochromatosis: clinical manifestations. Adams PC, Speechley M. The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol. Arthritis in hemochromatosis. Schumacher HR Jr. Hemochromatosis and arthritis. A survey of patients with hemochromatosis: symptoms and response to treatment. Cardiology for arrhythmia and heart failure. Rheumatology or endocrinology for osteoporosis. Occupational and physical therapy for joint related illness for muscle strengthening, range of motion exercises and functionality.

America Association of Liver Disease Practice Guideline for diagnosis, biopsy and phlebotomy for non- joint related organ involvement. Axford, JS. Cunnane, G. Kelley's Textbook of Rheumatology.

Volume II. Gordon, DA. Am J Med.. A large questionnaire based study of patients with hemochromatosis evaluating frequency of symptoms, quality of life, treatment received and response to treatment.

Clin Exp Rheumatol.. Review on the genetics, presentation and hypothesized pathogenesis of arthropathy. Pietrangelo, A. N Engl J Med. A complete review on iron absorption, genetics, proposed pathophysiology leading to iron overload, diagnosis, and management. Prospective study following patients with CY homozygous mutations for an average of 12 years evaluating gender, genetic and laboratory variables with penetrance of disease symptoms and organ involvement.

Greenspan, A. Orthopedic Imaging. Romas, E. Aust Fam Physician. Case study explaining the initial arthritic symptoms and findings. J Rheumatol. Review of atypical presentations, MRI imaging and proposed pathophysiology related to disease. Annals of Internal Medicine. Prospective study evaluating 22 males with hemochromatosis showing significant lower bone density in hemochromatosis with hypogonadism present.

The latest treatment guidelines and testing algorithm for organ related disease. Ann N Y acad Sci.. Pathology findings in cartilage samples. All rights reserved. No sponsor or advertiser has participated in, approved or paid for the content provided by Decision Support in Medicine LLC. Show More. Login Register. Enjoying our content? Thanks for visiting Rheumatology Advisor. If you wish to read unlimited content, please log in or register below.

Registration is free. Register for free and gain unlimited access to:. Does this patient have hemochromatosis? Jump to Section Does this patient have hemochromatosis? Joint manifestations Nonarticular manifestations Differential diagnosis What tests to perform? Iron testing HFE genetic testing Imaging Biopsy Overall interpretation of test results Controversies in diagnostic testing How should patients with hemochromatosis be managed?

Arthritis Osteoporosis Organ related disease CY homozygotes Lifelong maintenance Dietary restrictions Hepatocellular carcinoma What happens to patients with hemochromatosis? Specialty consultations Nurses Therapists Are there clinical practice guidelines to inform decision making? What is the evidence? Please login or register first to view this content. Open Next post in Rheumatology Close.

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