Hemochromatosis: A Primer for Hair Loss Physicians.

What Does the Hair Loss Specialist Need to Know about Hemochromatosis?

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Introduction

Ferritin levels are commonly ordered as part of a standard work up for many patients with hair loss. Although low ferritin levels are commonly thought to be associated with hair loss, one must not simply skim over the lab results too quickly if the ferritin levels return back showing that the patient has extremely high ferritin.  Although there are many, many causes of elevated ferritin, it is important for all hair specialists to immediately recognize the possibility that  a patient with elevated ferritin might have a diagnosis of hemochromatosis.

Consideration must be given to the possibility of hemochromatosis in all patients with both of the following two criteria: a) an elevated transferrin saturation above 0.45 (45 %) and  b) an elevated ferritin level above 200 ng/mL in women and 300 ng/mL in men.

What is “ hemochromatosis”?

This is a condition whereby the body absorbs and stores too much iron. Normally, the job of the intestines is to absorb iron. In hemochromatosis, the intestines do this too effectively and iron accumulates to harmful levels in the body.   Iron accumulates in many organs and may cause injury to those organs. The heart, liver and pancreas (and rarely thyroid)  are the main organs that are likely to be damaged by iron overload in patients with hemochromatosis

What is meant by “primary” hemochromatosis and what is meant by “secondary” hemochromatosis?

 Primary hemochromatosis is the hereditary form. The affected patient inherits one gene (called the HFE gene) from his or her mother and one gene from the father. These genes tend to increase the ability of the intestine’s to absorb iron from the diet. This form occurs commonly in those of European descent and men are 5 times more likely to be affected than women.

Secondary hemochromatosis is a form of hemochromatosis where iron overload occurs from liver disease (hepatitis C, fatty liver disease), kidney dialysis, or too many blood transfusions in the past/

How common is “primary” (hereditary) hemochromatosis?

About 0.5 % of those with European ancestry have hereditary hemochromatosis. That works out to 1 in 1000 people.

What symptoms might a person with hemochromatosis have?

A range of symptoms are possible. Most often, however, patients with hemochromatosis have no symptoms. In fact, about ¾ of people who are diagnosed are asymptomatic because they get tested long before they develop symptoms. Many get tested because they learn of a family member who was affected. In men, symptoms start appearing sometime between ages of 30 and 50. In women, symptoms don’t often appear until menopause.

Symptoms may be vague in some, which delays the diagnosis. These symptoms include

Fatigue

Weight loss

Erectile dysfunction in men

Loss of sex drive

Joint pain (knuckles – especially 2nd and middle fingers)

Abdominal pain

Jaundice

Bronze or grey color to skin

Memory problems (brain fog)

Heart rhythm disturbances

Heart disease

Early menopause

How is hemochromatosis diagnosed?

a) A full history and physical examination will be performed by the doctor.

Questions pertaining to fatigue, weight loss, jaundice, abdominal pain, sexual dysfunction, prior blood transfusion, family history, alcohol use, iron supplements, and other questions will be asked. An examination will be done including heart and liver and joint examination.

b) Blood tests for ferritin and transferrin saturation

In terms of diagnostic tests, a blood test is a good starting point after the history and physical is performed. An elevated level of TRANSFERRIN SATURATION (RATIO OF SERUM IRON/TIBC) is a potential indicator that something is not quite right.

In general, anyone with a transferrin saturation above 45 % should be investigated further. That’s a pretty low cut off but helpful in screening people who might benefit from a proper work up and that’s my preference. Some choose a higher cut off - ie a transferrin saturation above 50 % in women and above 60 % in men

If TRANSFERRIN SATURATION is elevated, the next step is to measure FERRITIN levels

For patients with hemochromatosis, transferrin saturation is elevated and ferritin levels are generally above 300 ng/mL in men and 200 ng/mL in women. Ferritin can be elevated for many other reasons so it’s important not to conclude that everyone with elevated ferritin to these levels has hemochromatosis. However, patients with elevated ferritin and elevated transferrin saturation need to have the proper work up to rule out hemochromatosis.

c) Liver enzymes - AST, ALT, bilirubin, ALP

If levels are abnormal, a liver biopsy might be considered if hemochromatosis is suspected or confirmed.

d) Other tests

This might include fasting blood glucose, hemoglobin A1c, triglycerides and TSH and vitamin B12

e) Gene mutations

The C282Y gene mutation is most common gene mutation but others including the H63D HFE gene mutation are also found. Patients with the C282Y mutation are the most likely to be symptomatic. It’s important to discuss the pros and cons of being tested for the hemochromatosis gene mutations. If positive, referral should be made to an expert in hemochromatosis (often a hematologist but this varies from center to center)

About 10 % of patients of European ancestry have ONE HFE gene mutation. But it normally takes two genes (one from each parent) for patients to develop iron overload and the clinical findings of hemochromatosis

f) Liver biopsy

If hemochromatosis is confirmed, a patient may undergo a liver biopsy to see how much iron has accumulated and how healthy the liver is

g) MRI scans

In some centers, patients may have an MRI scan to see how much iron has accumulated in various parts of the body.

What complications can arise from having hemochromatosis?

 Several diseases can occur in patients with hemochromatosis including

Liver problems (including cirrhosis and liver cancer).

Diabetes

Heart arrhythmias  and heart disease

Arthritis

Osteoporosis or osteopenia

Erectile dysfunction (men)

Early menopause (women)

Irregular periods (women)

Predisposition to certain types of infections

What is the treatment for hemochromatosis?

The main treatment is phlebotomy or bloodletting. The goal of removing blood from the body is to reduce iron levels.  Red blood cells are packed full of iron and so removing blood provides a simple way to lower the iron levels in the body. Some physicians recommend waiting to start phlebotomy until it is clear that iron has started to accumulate in one or more organs.

With phlebotomy, the hope is to bring the ferritin and transferrin levels back to normal.  The target ferritin is 50-150 and target hemoglobin is above 12.5 g/dL (125 g/L). Patients will have their hemoglobin, ferritin and transferrin saturation measured every 4-12 weeks. If the hemoglobin drops too fast and the patient now starts to develop an anemia, the phlebotomy will be done slower.

The actual amount of blood removed will depend on the patient, his or her age and the severity of the iron overload.  For many patients, 500 mL is removed every week or even twice per week until levels normalize. Thereafter, phlebotomy occurs every 2-4 months (rarely monthly). Some patients do not require ongoing phlebotomy after an initial session or two.

Phlebotomy is helpful to prevent complications provided the hemochromatosis is diagnosed before complications have set in. If there are already complications that have occurred, phlebotomy can help slow the progression of the complications (such as joint pain and liver cirrhosis).

For those who cannot tolerate phlebotomy, therapies to chelate iron may be prescribed

Other recommendations are commonly given including:

1) Avoiding addition iron supplements or multivitamins containing iron

2) Avoiding taking extra vitamin C

3) Avoiding alcohol as it may further damage the liver

4) Avoiding eating undercooked seafood, shellfish and raw fish as patients with hemochromatosis are at increased risk to develop serious infections from eating these foods.  Many of these seafoods contain bacteria that thrives in iron rich environments. In addition, iron accumulates in certain immune cells and reduces the ability to fight certain infections.

Do the patient’s family members need to be tested if a patient has hemochromatosis?

It is often recommended that the first-degree relatives of people with hemochromatosis undergo testing. This includes the patient’s parents, siblings, and children.