Re: Disease, Hemachromatosis, Gilbert's Syndrome

[Guest guest]

Hi ;

Without seeing all the test results I can't comment on why Dr. Lindor

would be concluding that Rick has these 3 diseases, but when you get

the results please do share them with the group. The diagnosis of

's and hemochromatosis is well stated in the following

article ... and I thought it might help you when the results did come

in. The good news is that they are treatable if found early:

_______________________________

Scand J Gastroenterol. 2007 Jun;42(6):673-81.

Hereditary iron and copper deposition: diagnostics, pathogenesis and

therapeutics.

Aaseth J, Flaten TP, Andersen O

Department of Medicine, Sykehuset Innlandet, Kongsvinger Hospital

Division, Kongsvinger, Norway.

Hereditary deposition of iron (primary haemochromatosis) or copper

('s disease) are autosomal recessive metabolic disease

characterized by progressive liver pathology and subsequent

involvement of various other organs. The prevalence of primary

haemochromatosis is approximately 0.5%, about 200 times higher than

the prevalence of 's disease. The two diseases are

characterized by homozygous occurrences of mutations in the HFE gene

on chromosome 6 (primary haemochromatosis) and the ATP7B gene on

chromosome 13 ('s disease). Unlike most other inherited

conditions, these diseases can be successfully treated, emphasizing

the importance of early diagnosis. Serum ferritin values, transferrin

saturation and genetic analysis are used when diagnosing

haemochromatosis. The diagnostics of 's disease depends on the

use of urinary copper values, serum ceruloplasmin and liver biopsy.

If untreated, both of these genetic diseases result in rapidly

progressing multiorgan damage and early death. The key treatment for

haemochromatosis is phlebotomy, for 's disease chelation or Zn

treatment. Although the present treatments considerably improve the

prognosis of patients, they may be inadequate in patients diagnosed

so late that extensive body deposits of metal have been developed.

The main research needs in this field are to further clarify

molecular mechanisms of disease progression and to develop new

chelators that are more effective and less toxic than those presently

available. PMID: 17505988.

_______________________________

Gilbert's syndrome is much less of a concern and is the result of a

homozygous mutation in the gene for UDP-glucuronosyltransferase 1A1.

The UDP-glucuronosyltransferase 1A1 enzyme conjugates bilirubin. When

this enzyme is absent you get unconjugated hyperbilirubinemia

(accumulation of unconjugated bilirubin), but this does not seem to

have any harmful effects, and so the syndrome is generally thought to

be benign.

Best regards,

Dave

(father of (23); PSC 07/03; UC 08/03)