What are the symptoms of hereditary hemochromatosis?
Signs and symptoms may include:
- Joint pain.
- Abdominal pain.
- Fatigue.
- Weakness.
- Diabetes.
- Loss of sex drive.
- Impotence.
- Heart failure.
Who gets hereditary hemochromatosis?
In the United States, about 1 in 300 non-Hispanic whites has hereditary hemochromatosis, with lower rates among other races and ethnicities. Many people with hereditary hemochromatosis don’t know they have it.
How rare is hereditary hemochromatosis?
The exact prevalence of classic hereditary hemochromatosis is unknown. The disorder is thought to be the most common autosomal recessive disorder in Caucasian populations. In individuals of Northern European descent, the prevalence is estimated to be as high as 1 in 227 individuals in the general population.
At what age should you be tested for hemochromatosis?
It is best to get tested when you are age 18 to 30 when tests can usually detect the disease before serious organ damage occurs.
Who is at risk for hemochromatosis?
Risk Factors Primary hemochromatosis is more common in men than in women. Also, older people are more likely to develop the disease than younger people. In fact, signs and symptoms usually don’t occur in men until they’re 40 to 60 years old.
Does hemochromatosis affect weight?
Hemochromatosis may cause belly pain, weakness, tiredness, and weight loss.
Can I pass hemochromatosis to my kids?
What Causes Hereditary Hemochromatosis? Hereditary hemochromatosis is a genetic condition. For kids to get it, both of their parents must have the gene that causes the condition. But many kids who inherit the gene from their parents do not develop any problems.
What is the life expectancy of someone with hemochromatosis?
Despite this, the prognosis is generally very good and the median survival is about 8-15 years according to the nci. A recently published study from stanford has shown that since 1997 the median survival has increased to over 18 years. Life expectancy depends on the extent of disease.
Which genetic mutations are associated with hemochromatosis?
Hemochromatosis may be hereditary, meaning it is caused by genetic changes ( mutations or pathogenic variants) to any of several genes including FTH1, HAMP, HFE, HFE2 (also known as HJV ), SLC40A1, and TFR2. [2] [3] [4] Hereditary hemochromatosis is classified by type based on age of onset, genetic cause, and mode of inheritance:
How true it is that hemochromatosis is genetic?
It is true: The full name is, indeed, hereditary hemochromatosis. The most common form in the western world is mediated by the inheritance of 2 abnormal copies of a gene called hfe. So you need one abnormal copy from mom and one from dad. Single copy carriers do not have hemochromatosis.
What is the prognosis for hemochromatosis?
Prognosis of hemochromatosis. The degree of organ damage, especially in the liver, is decisive for a prognosis. Patients with severe liver tissue scarring (cirrhosis) and diabetes appear to have a shorter life expectancy.