Twenty years of progressive symptoms before diagnosis.
I was a very active athlete during my youth including being a competitive distance runner and swimmer. Between the ages of 16 and 30 I ran between 35 and 70 miles per week consistently. Between 30 and 35, I was running 20 to 30 miles per week. I have never smoked, always tried to maintain a healthy diet, and have avoided taking painkillers on principle.
At age 34 my triglycerides increased dramatically. Working with my GP, I initially tried to bring the triglycerides down with diet and exercise. After six months of a severely restricted diet and strenuous exercise program, the level did not come down so my GP eventually prescribed Lipitor (statin).
At age 36, I was experiencing increasing joint pain in my knees, hips and big toe. The toe was diagnosed as gout, the hips and knees as repetitive stress injuries from running and a possible precursor to arthritis. My GP told me to substitute low impact exercises for running and take Aleve. I did not take Aleve often due to reluctance to take painkillers. I started to cut back significantly on exercise.
At the age of 43, my joint pain was increasing dramatically even under a mostly low impact exercise regime. I was tired all the time. I pared back on exercise and started to gain weight. While my doctor felt it was probably just “natural aging,” I was tested for Lyme disease, vitamin deficiencies, auto-immune disorders and many other conditions. I experienced my first arrhythmia (irregular heartbeat) episode at 43, which corrected on its own after a few minutes.
At age 47, my joint pain and weight had increased to a point where I stopped running altogether and minimized other exercise. Arrhythmia events continued to occur but would always self-correct within 30 minutes.
At age 49, I started to have problems with “metabolic syndrome” and severe depression. I was also experiencing bloating and abdominal pain. Diet and limited exercise did not help. Even walking was becoming a problem due to lower back pain.
At 51, after testing, I was diagnosed with moderate sleep apnea and perscribed a CPAP machine. This did not have much of an effect on the symptoms.
At 54, I started having severe problems controlling my blood sugar. My GP tested my iron levels and found the ferritin “very high.” A genetic test for hereditary hemochromatosis alleles was positive for compound heterozygous C282Y/H63D hereditary hemochromatosis (HHC).
I began a protocol of phlebotomies of 1 pint per week until the ferritin level was below 300 ng/mL (approximately 16 weeks), then once every two weeks until below 100 ng/mL (approximately another 16 weeks). My blood sugar regulated and the joint pain was starting to go away by the end of this treatment. My triglycerides came down without medication. By end of that year I felt like I was 15 years younger.
At 55, the minor arrhythmia problems suddenly increased dramatically to the point that my heart was always in tachycardia (abnormally high heart rate) and arrhythmia. I was hospitalized for a significant part of the second half of the year. Standard drug protocols and heart restarts did not alleviate the tachycardia / arrhythmia. By the end of the year, my heart was failing and it was often difficult to walk more than 100 feet. One potential explanation presented for the rapid deterioration after phlebotomies was that the reduction in iron deposits somehow exacerbated the “short circuits” that were causing the arrhythmia (i.e., reduction in iron deposits may have introduced voids that somehow exacerbated the problem).
At 56, an ablation was performed that eliminated the tachycardia and arrhythmia. This dramatically improved my quality of life, and I started exercising more and rebuilding my health. Late in the year there was confusion with my doctors regarding whether 1) a compound heterozygote had HHC, and 2) what ferritin levels should be maintained in persons with HHC. By the end of the year, my ferritin level was back up over 300 ng/mL.
At 57, a Hematologist finally clarified for my GP that:
1) a person that presents C282Y/H63D genetic profile with high ferritin that can withstand months of weekly phlebotomies without becoming anemic definitely has HHC, and
2) persons with HHC should have phlebotomies on an interval sufficient to maintain ferritin levels below 100 ng/mL
In 2017, my 53 year-old brother died of probable arrhythmia in his sleep. He had been diagnosed two years earlier with C282Y/H63D HHC. He had many precursor symptoms including, but not limited to, severe thyroid problems and a non-injury related hip replacement before he was 45. Once the genetic profile was discovered, his doctor prescribed donating blood every three months. Sadly and frustratingly, this was not an adequate treatment protocol and his ferritin level was still above 800 ng/mL one month prior to his death.