Hereditary hemochromatosis (HH) is a genetic disorder causing the body to absorb an excessive amount of iron from the diet, leading to increased total body iron stores. This excess iron accumulates in various tissues and organs, disrupting their normal function over time. The condition is often referred to as an iron overload disorder and can affect the liver, heart, pancreas, and joints if left untreated.
The Initial Diagnosis and Referral
The first medical professional to suspect and investigate hemochromatosis is typically the Primary Care Physician (PCP) or Family Doctor. Patients often first present with non-specific symptoms such as chronic fatigue, joint pain, or abdominal discomfort, which can easily mimic other conditions. These general symptoms prompt the PCP to order initial screening blood tests to check for underlying issues.
Screening tests focus on evaluating iron levels in the blood, specifically serum ferritin and transferrin saturation (TSAT). TSAT is often the earliest indicator of the condition. If both the TSAT and ferritin levels are elevated—for instance, a TSAT greater than 45% and ferritin greater than 300 \(\mu\)g/L in men or 200 \(\mu\)g/L in women—the PCP confirms the suspicion with genetic testing for the HFE gene mutation. Once the diagnosis is confirmed, the PCP issues a referral to a specialist to manage the iron depletion therapy.
Primary Specialists for Iron Overload Management
The direct management of iron overload falls primarily to two types of specialists, depending on the patient’s specific presentation. The Hematologist specializes in disorders of the blood. Their primary role is to oversee therapeutic phlebotomy, which is the removal of blood to deplete excess iron stores. They determine the appropriate schedule for blood draws, monitor the patient’s complete blood count, and ensure the iron depletion phase is managed safely until iron stores are normalized.
The Hepatologist is also a principal specialist because the liver is the main organ for iron storage and is highly susceptible to iron-induced damage. They monitor the health of the liver, assessing for complications like fibrosis, cirrhosis, or liver cancer. A Hepatologist may perform advanced imaging or a liver biopsy to assess the extent of liver damage, particularly if the serum ferritin level exceeds 1,000 \(\mu\)g/L. Collaboration between the Hematologist and Hepatologist is often necessary, especially in the initial phase of treatment.
Addressing Organ-Specific Complications
Cardiology
A Cardiologist becomes involved if iron accumulation has affected the heart muscle, a condition known as cardiomyopathy. This iron deposition can lead to issues with heart rhythm, such as arrhythmias, or reduce the heart’s ability to pump blood effectively, potentially causing heart failure.
Endocrinology
An Endocrinologist is required if the pancreas has been damaged by iron overload. Pancreatic damage can impair insulin production, leading to a form of diabetes often referred to as “bronze diabetes.” They also manage hypogonadism, which can occur if iron affects the pituitary gland’s ability to regulate sex hormones.
Rheumatology
A Rheumatologist provides care for musculoskeletal complications, such as joint pain or arthritis. Iron accumulation in the joints, particularly the second and third knuckles and the wrists, can cause a specific type of arthropathy resembling osteoarthritis. While iron depletion therapy helps other organs, the joint damage often persists, making the Rheumatologist’s management of pain and joint function necessary.
Long-Term Monitoring and Maintenance
Once the initial induction phase of therapeutic phlebotomy is complete, and iron stores have been depleted, the patient enters a long-term monitoring and maintenance phase. The goal is to maintain the serum ferritin level within a low-normal range, typically between 50 and 100 \(\mu\)g/L. The Hematologist often oversees this maintenance phlebotomy schedule, which may be needed only three to four times per year, depending on how quickly the iron reaccumulates.
Regular follow-up blood work, including serum ferritin and TSAT measurements, is performed periodically to prevent the recurrence of iron overload. The patient’s PCP may manage this maintenance phase in consultation with the specialist if the condition is stable. Genetic counseling is also an important part of long-term care, ensuring first-degree relatives are screened to detect the condition early.