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

Figures & data

Figure 1 Liver biopsy is histologically unremarkable on H&E stain (A). On higher magnification, there is intra-hepatocyte brown pigments which represents iron accumulation (B).The pigments appear blue with Perls stain (C). Grade 4 hepatocyte iron overload. The biopsy is negative for significant fibrosis.

Table 1 Summary of Laboratory Results for Both Patients

Laboratory Tests	Reference Range	Patient 1 (9-Year-Old)		Patient 2 (25-Year-Old)
		Before Deferasirox Administration	After Deferasirox Administration	Before Deferasirox Administration	After Deferasirox Administration
Hgb (gm/L)	(113–150 gm/L)	145	146	147	138
Ferritin (ug/L)	(4.6–204 ug/L)	1637	342	883	124
Serum iron (umol/L)	(9–21.5 umol/L)	52.6	49.3	54.5	23.2
ESR (mm/hr)	(0–20mm/hr)	2	2	15	9
CRP (mg/L)	(<3.5 mg/L)	<3.5	<3.5	<3.5	<3.5
AST (U/L)	(5–34 U/L)	61	33	22	18
ALT (U/L)	(5–55 U/L)	93	29	16	13
BUN (mmol/L)	(2.5–6 mmol/L)	3.5	3.2	3.3	4.2
Creatinine (umol/L)	(27–62 umol/L), (50–98 umol/L)	50	51	61	71

Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; BUN, blood urea nitrogen; CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; Hgb, hemoglobin.

Figure 2 Axial T2 weighted image of the liver showed dark signals of the liver (L) relative to normal signals of spleen (S) due to iron deposition.

Table 2 Main International Recommendations on Venesection Therapy in HFE Haemochromatosis (with Permission from Powell,2016)34,38,39,40

	Initial Therapy	Phlebotomy	Endpoint	Maintenance Therapy
	Criteria for Testing			Goal
France (2005)	SF>300 µ/L in men; SF>200 µ/L in women	5–7 mL/kg (<550 mL) once a week	SF <50 µg/L	SF <50 µg/L
Netherlands (2007)	Not Precise	500 mL once a week	SF <300 µg/L	SF within the reference values
EASL (2010)	SF above the normal range	400–500 mL every 1 or 2 weeks	SF <300 µg/L	SF <50 µg/L
AASLD (2011)	Increased SF with or without clinical symptoms	500 mL once or twice a week	SF 50–100 µg/L	SF 50–100 µg/L

Abbreviations: EASL, European Association for the Study of the Liver; ASSLD, American Association for the Study of Liver Diseases; SF, serum ferritin.

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