Chronic fatigue and joint pain are among the first complaints of a hemochromatosis (HHC) patient but these two symptoms are not specific to HHC, except for one unique characteristic: the iron fist, which is a distinct enlargement of the 2nd and 3rd metacarpophalangeal joints (MCP) or the "knuckles".
According to the Arthritis Foundation, over 50 million Americans have arthritis but each type of arthropathy (joint disease) has clinical and radiographic (x-ray) differences.
Photo courtesy of Dr. Jan Frank Gerstenmaier
On x-ray, hook osteophytes can be seen in patients with osteoarthtitis or calcium pyrophosphate dihydrate crystal deposition disease (CPPD) which is sometimes called pseudo-gout. "Crystal arthropathy is common in hemochromatosis but many CPPD patients do not have hemochromatosis," says arthropathy expert Joanne M. Jordan, MD, MPH of the Thurston Arthritis Research Center. "The hook shape of osteophytes in the MCP joints do not make a diagnosis of hemochromatosis in and of themselves, but they should prompt its evaluation."
An osteophyte is a bony bump sometimes called a bone spur. It is a growth that results from damage or disease of the joint. Margaret Kennedy, who was diagnosed with classic hemochromatosis in the ‘90s, has suffered immeasurably with pain caused by such bone spurs. Hers dominate the small bones of her hands, toes and neck. Multiple surgeries, Botox injections, pain relievers, heat and massage therapy are approaches she has used over the decades to deal with the pain. Dr. Jordan stresses the importance of sleep; Kennedy agrees.
Many HFE patients report that joint pain is more intense when the transferrin-iron saturation percentage (TS%) climbs. They urge their doctors to do a phlebotomy in spite of a normal serum ferritin. Unfortunately this can lead to iron avidity and more pain.
Edouard Bardou-Jacquet and his team of investigators Lainé, Guggenbuhl, Morcet, Jézéquel, Guyader, Moirand, and Deugnier confirm for us in “Worse Outcomes of Patients with HFE Hemochromatosis with Persistent Increases in Transferrin Saturation during Maintenance Therapy” the consequences of iron avidity, a condition where the serum ferritin is within normal limits but the TS% remains persistently elevated. In this journal article Bardou-Jacquet et al. report that individuals with HFE hemochromatosis can experience worse outcomes such as joint pain when the transferrin saturation percentage (TS%) is persistently elevated while the serum ferritin is within normal range.
Correcting iron avidity is not always straightforward. In a few situations, ID worked with HHC patients who were iron avid and their doctors to restore iron balance. With these individuals, their physicians treated their iron avidity with diet strategies used to correct iron deficiency. In one case, it took two years to outpace iron avidity but once iron balance was achieved, the HHC patients did not need a phlebotomy. They continue to keep iron in balance with diet.
Margaret Kennedy shares her life with hemochromatosis:
Dr. William Palmer did a video for Mayo Clinic on hemochromatosis. Dr. Palmer is one of the experts who reviewed and contributed to our most updated physician handout:
McDonnell SM, Preston BL, Jewell SA, et al. (1999). A survey of 2851 patients with hemochromatosis: symptoms and response to treatment. American Journal of Medicine, 106 (6), 619-24.
Bardou-Jacquet E, Lainé F, Guggenbuhl P, Morcet J, Jézéquel C, Guyader D, Moirand R, Deugnier Y. (2017). Worse outcomes of patients with HFE hemochromatosis with persistent increases in transferrin saturation during maintenance therapy, Clinical Gastroenterology and
Hepatology. doi: 10.1016/j.cgh.2016.12.039.
Schumacher HR Jr. (1964). Hemochromatosis and arthritis.
Arthritis and Rheumatism, Feb. (7), 41-50.