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Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Authors Alqanatish J, Alsowailmi B, Alfarhan H, Alhamzah A, Alharbi T

Received 12 August 2020

Accepted for publication 27 October 2020

Published 15 January 2021 Volume 2021:13 Pages 15—21


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Chuan-Ju Liu

Jubran Alqanatish,1– 3 Banan Alsowailmi,1 Haneen Alfarhan,1 Albandari Alhamzah,1 Talal Alharbi1,2,4

1King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 14611, Saudi Arabia; 2King Abdullah International Medical Research Center (KAIMRC), Riyadh 14611, Saudi Arabia; 3Department of Pediatrics, King Abdullah Specialist Children’s Hospital and King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; 4Department of Pediatric Hematology/Oncology, King Abdullah Specialist Children’s Hospital and King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia

Correspondence: Jubran Alqanatish
King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), PO Box 22490, Riyadh 11426, Saudi Arabia
Tel +966 118011111 Ext 53501

Abstract: Hereditary hemochromatosis (HH) is an inherited iron overload. The most common form of HH is type 1 hereditary hemochromatosis (HFE-related), which is associated with mutation of the HFE gene located on chromosome 6 and inherited in an autosomal recessive pattern. Type 2 hereditary hemochromatosis or juvenile hemochromatosis is less frequent autosomal recessive disease that results from mutations in the HJV gene on chromosome 1 (type2a) or the HAMP gene on chromosome19 (type2b). Mutation of type 2 transferrin receptor gene and mutation of the ferroportin gene result in hemochromatosis type 3 and hemochromatosis type 4, respectively. Juvenile hemochromatosis is characterized by an early onset of excess accumulation of iron in various organs. It could affect the liver, heart, pancreas and joints, resulting in arthropathy. Most juvenile hemochromatosis cases exhibit severe symptoms due to early onset. Cardiac and hypogonadism are the dominating features of the disease. Prevalence of arthropathy in juvenile hemochromatosis is higher than classic HH. Early diagnosis and intervention of juvenile hemochromatosis may prevent irreversible organ damage. The diagnosis can be made based on laboratory testing (of increased transferrin saturation, serum iron and ferritin levels), liver biopsy, imaging or genotype. According to international guidelines, treatment of HH is indicated when serum ferritin concentrations are above the upper limit of normal. We report two sisters who presented to the rheumatology clinic with arthralgia, which was subsequently found to have a homozygous mutation variant of unknown significance in the HFE2 gene: c.497A>G;p.(His166Arg) and has been treated with deferasirox (Exjade®). Musculoskeletal symptoms completely resolved in both patients in two months and remained so for one year on treatment.

Keywords: hereditary hemochromatosis, HFE gene, arthritis, deferasirox

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