Although relatively uncommon, inherited liver diseases are important
causes of liver damage to identify as early as possible, as all can lead
to cirrhosis and related
complications. Lankenau Medical Center offers expertise in the
diagnosis and treatment of inherited liver diseases, including the
following conditions.
Go To: Hemochromatosis
| Wilson Disease | Alpha-1
Antitrypsin Deficiency
Hemochromatosis
Hemochromatosis involves an inherited defect that causes absorption of
too much iron from food. Instead of secreting the excess iron, the body
stores it in tissues, particularly the liver, heart, and pancreas. Left
treated, the excess iron can lead to organ damage and, ultimately,
failure. If hemochromatosis is suspected, blood tests, genetic tests,
and a liver biopsy may be performed. Treatment is lifelong phlebotomy
procedures (removal of a pint of blood, the same as is done during blood
donation). The procedures are done on a more frequent basis at first,
until iron levels are normal. Outpatient phlebotomy treatments and
genetic counseling for hemochromatosis are offered at Lankenau Medical
Center.
Wilson Disease
Wilson disease is characterized by an abnormal buildup of copper in the
liver, brain, eyes, and other organs, which over time causes organ
damage and can be life threatening. If suspected, blood and urine tests,
genetic tests, and a liver biopsy help make the diagnosis. If diagnosed
before serious liver disease develops, Wilson disease can be treated
with medications to reduce and then control copper levels in the body.
This treatment is lifelong and requires regular monitoring. Patients
with acute or chronic liver failure require liver transplantation.
Alpha-1 Antitrypsin
Deficiency
Alpha-1 antitrypsin deficiency is characterized by abnormally low levels
of a protein that protects the liver and lungs. The disease leads to
emphysema and cirrhosis. Abnormal liver tests rather than symptoms
trigger a diagnostic evaluation, which involves further blood tests and
genetic tests. The only treatment for liver disease is liver
transplantation.
To schedule an appointment with a Lankenau
gastroenterologist, call 866.CALL.MLH or use the online
appointment request form.
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