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Early detection and treatment of hereditary hemochromatosis has been instrumental in reducing the occurrence of life-threatening complications from iron overload, such as cirrhosis of the liver. However, there are also some important non life-threatening aspects of hereditary hemochromatosis which are reported by patients to reduce quality of life by affecting their physical, emotional, and social well being.

The patient's compliance with the treatment program is of the utmost importance. If the patient skips scheduled phlebotomy sessions or terminates the treatments prematurely before the serum ferritin levels have dropped to acceptable levels, there can be significant impact on the development or progression of complications.

Most patients generally tolerate therapeutic phlebotomy well and may experience only mild, temporary side effects immediately after treatment. The most common complaint of patients following phlebotomy is a feeling of fatigue as well as pain or irritation from the needle puncture. Some patients also feel that the weekly treatment is tedious. In order to ease the experience of therapeutic phlebotomy and to minimize any side effects, patients are encouraged to drink plenty of fluids before and after treatment and avoid vigorous physical activity for 24 hours after treatment.

In a survey of 2,851 patients conducted by the U.S. Centers for Disease Control and Prevention (CDC) regarding the impact of symptoms of hereditary hemochromatosis on quality of life, the following responses were noted:

• 58% of the patients surveyed reported experienced symptoms related to hereditary hemochromatosis. Among these, 65% had arthritis and 52% had liver disease.

• The most common and most disturbing symptoms included:

  • Extreme fatigue (46%)
  • Pain in the joints (44%)
  • Loss of sexual drive (26%)

To read more about this study, please click on the following link: http://www.medifocus.com/abstracts.php?gid=GS020&ID=10378618

Other studies have reported that symptomatic patients with hereditary hemochromatosis cited that arthralgia in the form of joint pain or arthritis had the most negative impact on their quality of life.

Many patients with hereditary hemochromatosis experience high levels of frustration until they are diagnosed correctly. The Centers for Disease Control and Prevention (CDC) has noted that people with hereditary hemochromatosis are misdiagnosed 67% of the time and typically visit three doctors before being correctly diagnosed. In the duration, they may have been experiencing many symptoms, such as:

• Fatigue
• Joint pain
• Arrhythmia - irregular heart beats
• Anxiety
• Depression
• Abdominal pain

After being diagnosed with hereditary hemochromatosis, it is important for patients to be educated by health care professionals regarding genetic counseling and genetic testing of direct relatives, such as siblings and children. There are advantages and disadvantages to being tested to determine the presence of the mutation on the HFE gene. If the test is positive but the patient is asymptomatic, they may experience repercussions in the form of potential employment discrimination, denial of health insurance or higher premiums, and even cancellation of the policy. In addition, the individual may need psychological counseling to cope with the emotional and psychological effects of a positive genetic test even though they are still asymptomatic.