Hemochromatosis & related Syndromes E-Book

Thomas Berg

• Herausgeber: Books on Demand
• Kategorie: Ratgeber
• Sprache: Englisch
• Veröffentlichungsjahr: 2020

Seitenzahl: 46

Beschreibung

Among the rare diseases, hemochromatosis and H63D syndrome are some of the better known. And yet they are often diagnosed far too late. This is due to a fundamental problem: many people, doctors and patients alike, are unaware of the diversity of these diseases and their varying symptomatic manifestations. This short and compact e-book will provide answers to many questions despite its brevity, and maybe help to save your health.

Leseprobe

Hemochromatosis & related Syndromes

A very common rare diseaseClassical HemochromatosisH63D Mutation SyndromeOther disorders of iron metabolismHow to cope with a rare diseaseKey information about H63D Syndrome in a nutshellA small selection of studiesDisclaimerCopyright

A very common rare disease

Hereditary hemochromatosis (HH) is an inherited iron overload disorder caused by inappropriately low hepcidin secretion leading to increased duodenal absorption of dietary iron, most commonly in C282Y homozygous individuals and, to a lesser extent, in people with a homozygous mutation of HFE gene H63D. This can result in elevated serum ferritin, iron deposition in various organs and ultimately organ damage, although there is incomplete biochemical and clinical penetrance and variable phenotypic expression of the HFE mutation in hereditary hemochromatosis. Independent of HH other iron overload syndromes exist which are related to hereditary hemochromatosis, however they cause entirely different symptoms and affect other organs, differently than classical HH.

An elevated ferritin <1000μg/l is associated with an increased risk of cirrhosis and mortality in C282Y homozygotes. Conversely, a ferritin <1000 μg/l is associated with a very low likelihood of cirrhosis, making liver biopsy unnecessary among C282Y homozygotes in the absence of concomitant risk factors for liver disease. Phlebotomy remains the mainstay of treatment and new treatments being studied. Iron overload is being recognized to play a carcinogenic role in hepatocellular carcinoma and other cancers, possibly supporting iron depletion in these patients. The understanding of this condition has grown significantly since the initial description of advanced HH as ‘bronze diabetes’ by Trousseau in 1865, to the discovery of the role of iron metabolism in its pathogenesis by Sheldon in 1935, to the identification of the C282Y mutation in HFE as responsible for most cases of HH in 1996 and most recently to the recognition of a central role of hepcidin in the regulation of iron absorption and pathogenesis of HH.

The current classification system for HH has categorized this disorder into four types. The most common is type 1 or “classical” HH which is associated with a homozygous cysteine to tyrosine missense mutation in HFE gene. Since HFE-associated hemochromatosis (type 1) is the most common form of inherited iron overload, I will focus primarily on this type but will also review the current status of the understanding of H63D syndrome.

The outlook for people who have hemochromatosis largely depends on how much organ damage has already occurred at the time of diagnosis. Early diagnosis and treatment of the disorder are important. Treatment may help prevent, delay, or sometimes reverse complications of the disorder. It also may lead to higher energy levels and better quality of life. With early diagnosis and treatment, a entirely normal lifespan is possible. If organ damage has already occurred, treatment may prevent further damage and improve life expectancy. However, treatment may not be able to reverse existing damage. If hemochromatosis is not treated, it can lead to severe organ damage or, in extreme cases, even death.

People who get treatment for classical hemochromatosis have variating responses to the standard treatment, which is phlebotomy. Others get different treatments, for some patients there no causal treatment at all because they suffer from syndromes in which standard treatments are of no help. People who have an advanced iron disease or who are getting intense treatment that weakens them may need help with daily tasks and activities. 

If you have hemochromatosis, getting ongoing care is important. Ongoing care may include:

Continuing therapy

Taking medicines as prescribed

Contacting your doctor right away about new or worsening symptoms or possible reactions to your treatment

Following up regularly with your doctor about test results, ongoing treatments, and annual exams

Using a diary or log to track the amount of iron in your body

If you need routine phlebotomy, you may have to change your usual work times to schedule your treatments. You also may have to change your work schedule to allow for periods of fatigue (tiredness) or recovery, especially if your treatment weakens you. Living with hemochromatosis may cause fear, anxiety, depression, and stress. Talk about how you feel with your health care team. Talking to a professional counselor also can help. If you're very depressed, your doctor may recommend medicines or other treatments that can improve your quality of life.

Joining a patient support group may help you adjust to living with hemochromatosis. You can see how other people who have the same symptoms have coped with them. Talk with your doctor about local support groups or check with an area medical center. Support from family and friends also can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.

Parents, grandparents, brothers and sisters, and children (blood relatives) of a person who has hemochromatosis may be at risk for the disease. Talk with your doctor to see whether your relatives should have their iron levels checked. Your doctor may recommend genetic testing to show whether family members are at risk for the disease. If a relative already has been diagnosed with hemochromatosis, a genetic test can show whether he or she has the primary (inherited) form of the disease. We truly hope that this compact book will be of help for you, especially for those individuals who are currently struggling with a non-classic hereditary iron overload disorder. Because these are the ones who are the forgotten ones of modern medicine. At the end of the book, we provide a chapter summarizing the most important aspects of H63D syndrome in a way that is generally understandable for laypersons. You may copy this chapter for private purposes, such as to present it to your doctor.

However, please be aware of the fact that this e-book is not intended to diagnose you in any shape, way, or form; also not to diagnose third parties. The same applies to every treatment mentioned in this e-book: Please do not base your treatment on anything you will read here. The only people in charge of diagnosing and treating you are your