Objective: To evaluate whether arthropathy is associated with juvenile hemochromatosis and, if so, to assess the relationship between this feature and other clinical features of the disease.
Methods: Clinical, laboratory, and radiologic evidence of arthropathy was studied in 8 Greek patients with genetically proven juvenile hemochromatosis. Osteopenia and osteoporosis were assessed by bone mineral density measurement.
Results: Seven of the 8 patients had articular manifestations. The main affected joint was the metacarpophalangeal joint, and the arthritis was progressive independent of phlebotomy therapy. Osteopenia was observed in 2 patients, and osteoporosis in 2 patients.
Conclusion: Arthropathy may be present in patients with juvenile hemochromatosis, with features similar to those found in patients with hemochromatosis type 1.
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http://dx.doi.org/10.1002/art.10755 | DOI Listing |
Zhonghua Xin Xue Guan Bing Za Zhi
January 2025
Department of Cardiology, the First Affiliated Hospital of Soochow University, Suzhou215031, China.
Zhonghua Gan Zang Bing Za Zhi
November 2024
First Department of The Liver Disease Center, Beijing YouAn Hospital, Capital Medical University,Beijing100069, China.
The incidence of juvenile Hereditary Hemochromatosis caused by HAMP gene mutation is low, which is rarely reported in China. This patient took abnormal liver function as the first symptom, and was finally diagnosed by genetic testing and hepatic histopathology, and treated by venous bloodletting.
View Article and Find Full Text PDFJCEM Case Rep
November 2024
Department of Endocrinology Diabetes and Clinical Nutrition, Oregon Health Sciences University, Portland, OR 97239, USA.
World J Clin Cases
July 2024
Department of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China.
Br J Haematol
January 2024
SSD Rare Diseases-European Reference Network for Rare Hematological Diseases-EuroBloodNet-Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Haemochromatosis (HC) encompasses a range of genetic disorders. HFE-HC is by far the most common in adults, while non-HFE types are rare due to mutations of HJV, HAMP, TFR2 and gain-of-function mutations of SLC40A1. HC is often unknown to paediatricians as it is usually asymptomatic in childhood.
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