Read one article: hereditary hemochromatosis (including diagnosis and treatment flow chart)

Hereditary hemochromatosis (HH) is an autosomal recessive disease, more common in men, caused by congenital excessive iron deposition in liver cells, pancreatic epithelial cells, cardiomyocytes, joint soft tissue cells, etc
.
HH can affect the liver, leading to complications such as cirrhosis and hepatocellular carcinoma.

Recently, an article published in JAMA introduced the symptoms, diagnosis and treatment of HH, and this article has organized the key content for readers
.

HH is more common in the Nordic population, with an incidence of about 1/300, while it is relatively rare in China, with an incidence of 0.
10%-0.
25
%.

HH affects the liver in about 25% of patients and may cause elevated liver function indicators, an enlarged liver, or both
.
Up to 9% of untreated patients with HH progress to end-stage liver disease (cirrhosis), and these patients are at increased risk of liver cancer (hepatocellular carcinoma
).
About 1% to 3% of people with HH develop heart disease (cardiomyopathy), which may lead to abnormal heart rhythm, heart failure, or both
.
Iron deposits in the pancreas, pituitary gland, and joints can lead to diabetes, decreased secretion of sex hormones (hypogonadism), and arthritis
.

HH can cause fatigue, joint pain, abdominal pain, loss of libido, and bronzed or gray skin
in the later stages of the disease.
However, about 90% of patients with HH have no signs or symptoms
.

HH
is usually diagnosed if blood tests suggest iron overload [based on elevated serum transferrin saturation (TSAT), elevated ferritin, or both).
HH is confirmed by genetic testing (see Figure 1).

TSAT and ferritin levels should be measured
in patients with signs or symptoms suggestive of HH or in certain medical conditions such as unexplained cirrhosis or cardiomyopathy.
Individuals whose parents, siblings, or children have HH are recommended to have these blood tests as well as HH genetic testing
even if they have not been diagnosed with iron overload.

The first-line treatment for people with HH is regular phlebotomy (phlebotomy), which lowers serum iron levels, improves liver function, reduces fatigue, and reduces the risk of
liver and heart problems.
Phlebotomy is usually given weekly for several years until serum ferritin falls to low levels, at which point phlebotomy can be changed to 3 to 4 times
per year.
Patients who do not improve with phlebotomy or cannot tolerate phlebotomy (e.
g.
, due to severe anaemia or heart failure) may receive oral therapy with iron conjugation, but evidence for this therapy is limited
.
Patients with HH and end-stage liver disease or hepatocellular carcinoma should be evaluated
for liver transplantation.
Figure 1 shows the diagnosis and treatment process of HH recommended by the American Academy of Hepatology
.

Figure 1 Diagnosis and treatment process of HH

In terms of lifestyle modification, people with HH should avoid supplements containing iron and vitamin C, but do not need to adopt an iron-restricted (vegetarian) diet
.
In addition, patients with HH should maintain a healthy weight and limit or avoid alcohol intake, as being overweight and drinking alcohol increases the risk of
cirrhosis and hepatocellular carcinoma.

References:

1.
XU Wenjiao, LI Changping, SHI Lei.
Clinical features and diagnosis and treatment progress of hemochromatosis[J].
Modern Clinical Medicine, 2019,45(04):303-306.

2.
Walter K.
What Is Hereditary Hemochromatosis? JAMA.
2022; 328(18):1879.
doi:10.
1001/jama.
2022.
19462.

3.
JIN Jinglan, ZHAO Xu, LI Guangming, et al.
Key points of the American Association of Hepatology guidelines for the diagnosis and treatment of hemochromatosis[J].
Journal of Clinical Hepatobiliary Diseases, 2013,29(05):403-405.