The American College of Clinical Pathologists (ACCP) recommends that everyone be tested for hemochromatosis by the age of 25. I’d be willing to bet you never heard of that recommendation or this hereditary iron overload condition, yet it affects 10-15% of the population of this country. Especially at risk are those of Western and Northern European descent, Scandinavian descent and Jewish descent. Simply put, those with hemochromatosis retain too much iron. The “safety switch” that normal people have that says, “OK – we got enough iron here!”, doesn’t work in people with hemochromatosis. Iron is stored in all tissues, but especially in the liver, heart and pancreas. Consequences of undiagnosed hemochromatosis include liver cancer and heart disease. Storage of too much iron in the liver causes inflammation (hepatitis) which causes scarring (fibrosis). Testing for this is easy and inexpensive. Tests include: serum iron saturation (TIBC – total iron blood count) and serum ferritin (amount of iron in storage). If these tests are elevated, your doctor should do the genetic testing necessary to look for hereditary hemochromatosis. This condition can be life threatening, but definitely does not have to be. Treatment is easy – bloodletting (phlebotomy). Blood is drawn (removing some of the iron with the blood), new blood is produced by the body (which pulls iron out of storage) and this procedure is repeated until the body becomes iron “desaturated”. Periodic blood draws will have to be done for the duration of that person’s life. If diagnosed early enough, liver damage can be completely avoided. The buildup of iron is slow and diagnosis often does not come until mid-life, especially for men. It’s diagnosed later in women than in men. Why? Remember how it’s treated – bloodletting. Women lose blood through menstrual periods, and therefore iron, every month. Women are often not diagnosed until after the onset of menopause.
Symptoms include joint pain, fatigue, pain or discomfort in the area of the liver, diabetes, sexual dysfunction (testosterone deficiency for men), hair loss, and bronzing or graying of the skin. Some people experience no symptoms and for many others, onset of symptoms is so slow and gradual, it’s frequently misdiagnosed as something else. Often, symptoms are chased and treated without ever discovering the real problem. See more information about hemochromatosis at Mayo here.
If anyone in your family tests positive for hemochromatosis, everyone needs to be tested. Remember, this is hereditary. Both parents have to be carriers of the recessive gene to pass this along to their children in its active state, but not to simply pass along the recessive gene. For instance, my husband’s grandfather died of heart failure at fifty-four (we now suspect undiagnosed hemochromatosis), but his father was completely unaffected. That means that, since my husband has an active form, both his mother and father carried the recessive gene – his father was German, his mother was Swedish. My husband was not diagnosed with this until he had already been diagnosed with Hepatitis C at age 52. A liver biopsy was done as part of assessing damage from the HCV and an iron staining test is part of the liver biopsy procedure and analysis. My husband had a blood draw once a week for almost a year and a half before his iron levels returned to normal. My husband had the symptoms for years. His doctor treated the symptoms without ever getting to the root cause.
I strongly advocate testing for this condition. It’s much more common than you might think. Once again, we’re talking about something that negatively affects your liver. You know, your liver – the quiet one over there in the corner. The hard-working, trudging non-complainer. The doesn’t-squeak-until-it’s-too-late guy.
Next time, the silent epidemic.
Hollis Pickett, in partnership with Toni Donovan, runs a Redding area non-profit – Local Area Support For Hepatitis, also known as LASH. Hollis has been involved with hepatitis advocacy since 2002 and is a steering committee member with CalHEP Alliance. She has been the bookkeeper and office manager for the law firm of Carr, Kennedy, Peterson & Frost for the past 25 years. Toni has just completed a Masters in Public Health (MPH) and is currently employed by Planned Parenthood and Acaria Health (a specialty pharmacy). LASH provides community education and patient/caregiver support for those infected with chronic viral hepatitis. A support group meets once a month for patients and their families. LASH offers group presentations, individual counseling and clinical education for patients entering treatment. You can contact them via e-mail at firstname.lastname@example.org or call Toni (945-7853) or Hollis (524-5601).