Arthritis Caused by Hereditary Hemochromatosis: Clinical Case

Activity: Talk or presentation types › Poster presentation

Description

Hereditary haemochromatosis (HH), an autosomal recessive disease, is the most commonly identified genetic disorder in Caucasians with a prevalence rate of 1:200-500. HFE gene C282Y homozygosity (or, rarely, C282Y/H63D compound heterozygosity) is necessary but insufficient for HH because of low penetrance. Haemochromatosis arthropathy is a secondary osteoarthritis (OA) and can be first and only manifestation. Early recognition is a unique opportunity to prevent progressive organ and joint damage due to constant iron overload. We present a case of a 59-year-old-female patient who initially presented with painful swollen ankles and knees. She recalled arthralgias since the age of 53 with no apparent cause or concurrent illness. Ultrasound imaging revealed synovitis and large osteophytes in both knees, and synovitis in ankle joints. We ruled out autoimmune, inflammatory arthritides and gout. Laboratory analysis revealed mildly elevated serum ferritin concentration for the last years (285.7-298.0 ng/mL) and normal inflammatory markers. Initial treatment with NSAIDs and physiotherapy had minimal effect on pain, function and swelling. Follow-up analysis revealed increased ferritin (466.1 ng/mL) and high-normal transferrin saturation TSAT (41.07%). A TSAT indicative of excess iron stores has been set at >40%, and ferritin level at >200 ng/mL, British Society for Haematology (BSH). Subsequently, genetic testing revealed that she was compound heterozygous for C282Y/H63D mutation, confirming the diagnosis of HH. The patient was referred to a hepatologist. Patients with early OA and rapidly progressing joint degeneration should be evaluated for evidence of iron overload. Such patients should undergo measurement of the TSAT and serum ferritin. In addition, we need to consider other differential diagnoses because ferritin, an iron storage protein and an acute phase reactant, can be elevated by chronic inflammation, due to acute liver injury and other illnesses, such us HIV infection, hemophagocytic lymphohistiocytosis. . .. .. .
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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