QuestionSBA
QuestionChoice
BNP may be relevant in assessing heart-related conditions, such as heart failure, it might not be the most important test in this case, given theadditional symptoms the patient is experiencing.
10015812
b
B naturetic peptide
QuestionChoice
These symptoms do not strongly suggest a thyroid issue as the primary cause.
10015815
e
Thyroid function tests
QuestionChoice
While the symptoms could potentially be related to liver dysfunction e.g. pulmonary oedema/pleural effusions due to hypoalbuminaemia, other symptoms point to potential renal/cardiac/endocrine impairment.
10015814
d
Liver function tests
QuestionChoice
While impaired kidney function can contribute to fluid retention and creatinine would be an important test to request, kidney disease does not explain the entire clinical picture.
10015813
c
Serum creatinine
QuestionChoice
The mention of a "bronze tan" could indicate haemochromatosis, a condition characterized by excess iron absorption, leading to symptoms such as those described in the vignette. This is further suggested by heart failure-type symptoms and diabetes.
10015811
a
Transferrin saturation
QuestionComment
given the peripheral oedema and the fact that heamochromatosis can lead to cardiomyopathy, is BNP a reasonable test to do in this scenario? 
41196
QuestionComment
nah 
44454
User
subscriber
Whiff Test Lover
QuestionComment
That's what I thought, I think it would be useful if the question clarified 'important test to aid in diagnosis' or something.
44829
User
subscriber
Acute Contusion
User
subscriber
Botox Stasis
QuestionComment
Why is this not addison's. Probs dumb question
55435
QuestionComment
he would have hypoglycaemia not hyper if he had addison's bc less cortisol- whereas here he's got diabetes due to the iron deposits in the pancreas presumably
61472
User
subscriber
Defibrillator Dominant
User
subscriber
Viral Myopathy
Concept
Chapter
# Summary

Hereditary haemochromatosis is a disorder of iron metabolism resulting in excessive iron accumulation within various sites of the body. Key signs and symptoms include bronze skin, type 2 diabetes mellitus, fatigue, joint pain, liver cirrhosis, and adrenal insufficiency. Key investigations include blood tests, genetic testing, and MRI imaging of the brain and heart. Management strategies revolve around iron depletion, primarily through phlebotomy or venesection and the use of an iron-chelating agent, desferrioxamine.

# Definition

Hereditary haemochromatosis is a genetic disorder of iron metabolism. It is characterised by excessive iron accumulation in the body, with iron deposition in a number of sites, including the liver, heart, joints, pituitary, pancreas, and skin.

# Epidemiology

Hereditary haemochromatosis is one of the most common genetic disorders in people of Northern European descent, particularly in populations of Celtic origin. In the UK, it is estimated to affect approximately 1 in 200 individuals of Northern European ancestry. The prevalence of the C282Y homozygous mutation varies geographically, with higher rates reported in regions with Celtic heritage.

# Aetiology

Hereditary haemochromatosis is a genetic condition, with the most common genotype being homozygosity for _HFE_ C282Y on chromosome 6. This mutation in the _HFE_ gene disrupts the control of iron absorption, leading to excessive iron accumulation in the body.

# Signs and symptoms

- Bronze skin
- Type 2 diabetes mellitus
- Fatigue
- Joint pain
- Sequalae of chronic liver disease/cirrhosis
- Adrenal insufficiency
- Testicular Atrophy

# Differential diagnosis

- Wilson's disease: Presents with liver disease, neurological symptoms and Kayser-Fleischer rings in the eyes.
- Alpha-1 antitrypsin deficiency: Presents with lung disease, panniculitis and liver disease.
- Porphyria cutanea tarda: Presents with skin blistering, hyperpigmentation, and liver abnormalities.

# Investigations

Blood tests:

- General population screening can be done with iron studies, with raised transferrin saturation (>55% in women and >50% in men)raised ferritin, raised iron, low TIBC
	- Note ferritin is an acute phase reactant and so is most helpful in early stage disease
- Genetic testing for HFE gene mutation if testing family members

Imaging/Invasive:

- MRI imaging of the brain and heart to identify evidence of iron deposition
- Liver biopsy to confirm increased iron stores, with Perl's stain quantifying the level of iron loading

# Management

Management of hereditary haemochromatosis focuses on iron depletion to normalise body iron stores, preventing or decreasing iron-mediated tissue injury and organ dysfunction. Methods include:

- Phlebotomy or venesection, which stimulates erythropoiesis and mobilizes iron from parenchymal cells and other storage sites. Target transferrin saturations are < 50%, and maintenance venesection is often required life-long
- Administration of desferrioxamine, an iron chelating agent.
- Avoidance of undercooked seafood – bacteria thrive on raised iron, in particular listeria monocytogenes

# Complications

Reversible complications:

- Dilated cardiomyopathy, bronze skin 

Irreversible complications: 

- Cirrhosis (once hepatocellular architecture is changed – there is no reversibility), diabetes mellitus, hypogondaotrophic hypogonadism (pituitary dysfunction) and arthropathy 

# References

[Click here to see more information on hereditary haemochromatosis on rarediseases.org](https://rarediseases.org/rare-diseases/classic-hereditary-hemochromatosis/)
735
763
Hereditary haemochromatosis
Topic
23
Gastroenterology
Video
Concept
763
Hereditary haemochromatosis
602
P1WWYUG
images/videos/gastroenterology.png
Quesmed Tutorial: Liver Function Tests
Condition
300
Haemochromatosis
UkmlaTopic
4
Cardiovascular
Condition
301
Haemochromatosis
UkmlaTopic
6
Clinical haematology
Condition
302
Haemochromatosis
UkmlaTopic
11
Gastrointestinal including liver
15706
In gastroenterology, a prolonged tanned complexion with peripheral oedema, thirst, and urinary frequency could indicate hereditary haemochromatosis, making transferrin saturation a crucial diagnostic test.
A 56-year-old comes to the GP surgery with breathlessness while walking his dog for the last two months. He has peripheral oedema and a tanned complexion, the latter also having progressed over the past two months. He has been thirsty and urinating more over the same time frame.

Which of the following is the most important blood test to request?
a