Natural history of C282Y homozygotes for hemochromatosis: RESULTS Part 3

In: Hemochromatosis

25 Jul 2012

Prevalence of life-threatening complications

Prevalence of life-threatening complicationsThe prevalence of cirrhosis, hepatocellular carcinoma, congestive heart failure and diabetes in treated probands and discovered family members is shown in Table 1. Cirrhosis was less frequent in discovered cases than in proband cases; however, liver biopsies were performed less frequently in discovered cases. The prevalence of cirrhosis may be underestimated in this study because not all patients had liver biopsies. None of the 16 patients found through population screening had life-threatening symptoms. Life-threatening symptoms were more common in proband cases, and were present in 36% of men and 19% of women (Table 1).
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TABLE 1
Clinical and biochemical profile of 277 subjects who are homozygous for the C282Y mutation of the hemochromatosis gene

Demographics Male probands (n=107) Male

discovered

(n=64)

Male

screened

(n=5)

Female

proband

(n=44)

Female

discovered

(n=46)

Female

screened

(n=11)

Age at diagnosis, years (range) 50 (18-74) 48 (10-72) 43 (28-53) 48 (18-77) 50 (11-77) 40 (28-57)
Ferritin, |jg/L (range) 1919 (12-8002) 1022 (10-5844) 383 (89-871) 684 (11-3630) 462 (9-2310) 47 (8-143)
Transferrin saturation, % (range) 80 (20-100) 71 (23-100) 55 (47-79) 61 (17-100) 66 (15-100) 45 (13-67)
Hepatic iron concentration, jmol/g (range) 301 (4-772) (n=49) 226 (28-772) (n=26) No biopsies 153 (20-322) (n=11) 182 (36-482 ) (n=16) No biopsies
Cirrhosis, n (%) 31 (30) 4 (6) 0 3 (7) 2 (4) 0
Arthritis, n (%) 46 (43) 16 (25) 0 14 (32) 10 (22) 0
Diabetes, n (%) 22 (21) 5 (8) 0 5 (11) 6 (13) 0
Congestive heart failure,

n (%)

13 (12) 6 (9) 0 2 (5) 1 (2) 0
Life-threatening symptoms*, n (%) 49 (46) 14 (22) 0 8 (18) 11 (24) 0

Reference ranges: serum ferritin concentration 15 to 200 yg/L for women and 30 to 300 yg/L for men; transferrin saturation 20% to 55%; hepatic iron concentration 0 to 35 ymol/g. *Cirrhosis, hepatocellular carcinoma, diabetes or heart disease (many patients had more than one of these symptoms)


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