Haemochromatosis
Doctor Information
Elouise Brenner, age 21
Past Medical History:
nil
Medication:
No regular medication
Allergies:
No known allergies
Last consultation 2 weeks ago with Dr Phelps:
Came wanting sleeping tablets. Father died yesterday, had been unwell for a month but not sure exactly what with - spent last week in hospital. Due for post mortem this week to determine cause of death. She has good family support, aware grieving, just wanting short term sleeping tablets.
Given hydroxyzine 25mg nocte for 7 days
Contact if wanting to discuss anything
Past Medical History:
nil
Medication:
No regular medication
Allergies:
No known allergies
Last consultation 2 weeks ago with Dr Phelps:
Came wanting sleeping tablets. Father died yesterday, had been unwell for a month but not sure exactly what with - spent last week in hospital. Due for post mortem this week to determine cause of death. She has good family support, aware grieving, just wanting short term sleeping tablets.
Given hydroxyzine 25mg nocte for 7 days
Contact if wanting to discuss anything
Patient Information
Elouise Brenner, age 21
Opening line: Doctor I.... (you break down and cry)
Once you have composed yourself, you start to explain things. Your father died recently and his post mortem said he had a condition called haemochromatosis. You had never heard of this before but the pathologist came to talk you your family and advised everyone to see their doctor for testing.
If asked: you have been on the internet, which was probably a really bad idea. It said that you can inherit the condition, and if you have it, there is too much iron in your body, and it builds up. It talked about diabetes and heart problems, and tiredness, and looking tanned. Now you think about it, you have been feeling tired for weeks now, you never have energy or motivation to do things, and you do think you look a bit more tanned that usual. Granted you do get a spray tan every few months but you havent been for at least 3 months. You have scared yourself reading about all the awful things that this disease can cause. You want to know more, and how to get tested.
Your fathers death seemed to come out of the blue. He had some vague symptoms, next thing he was in hospital dying. He was only 51. He has 2 sisters who are well, and you have two younger brothers, age 18 and 17 who are also well. Everyone is coping alright, it was a huge shock but you are a close knit family and are holding each other together.
You are a student at Leeds University, studying philosophy. Your lecturer has been brilliant and given you an some compassionate leave and an extension for your coursework. You live in a student flat with 2 other girls, and the rest of your family are from Wakefield so you see them quite a lot. You do not smoke, you rarely drink alcohol.
Ideas: you want to know more about this disease- was the internet stuff correct? What will it mean if you have it? Is there any treatment? Why wasnt it picked up earlier in your dad?
Concerns: with your tiredness and skin tone you think there is a strong possibility that you have it too.
Expectations: to discuss about the condition with the doctor and get tested
How to react: The doctor may suggest that your tiredness is more related to the recent situation with your father - it must have been tiring to go to uni then spend time at the hospital and look after your family too. However they shoulder be able to explain the condition with confidence to you, and how it can be inherited. Hopefully they will reassure you that you are young and the diagnosis is made with blood tests. They should ideally offer to check a few things - for example your blood count, kidneys, liver, glucose for diabetes, and then the iron tests that suggest haemochromatosis. If these are positive, you will be referred to a specialist for further tests. There are treatments that are very successful, usually involving removing blood from the body periodically or taking tablets to reduce the iron levels. If you are happy with the explanation and management plan, accept the testing and thank the doctor. If you feel they are not confident or lacking in detail, ask more questions (see ideas section) to clarify things. If their plan is to refer you straight away to a specialist, try to probe them on what they will do/test for.
Opening line: Doctor I.... (you break down and cry)
Once you have composed yourself, you start to explain things. Your father died recently and his post mortem said he had a condition called haemochromatosis. You had never heard of this before but the pathologist came to talk you your family and advised everyone to see their doctor for testing.
If asked: you have been on the internet, which was probably a really bad idea. It said that you can inherit the condition, and if you have it, there is too much iron in your body, and it builds up. It talked about diabetes and heart problems, and tiredness, and looking tanned. Now you think about it, you have been feeling tired for weeks now, you never have energy or motivation to do things, and you do think you look a bit more tanned that usual. Granted you do get a spray tan every few months but you havent been for at least 3 months. You have scared yourself reading about all the awful things that this disease can cause. You want to know more, and how to get tested.
Your fathers death seemed to come out of the blue. He had some vague symptoms, next thing he was in hospital dying. He was only 51. He has 2 sisters who are well, and you have two younger brothers, age 18 and 17 who are also well. Everyone is coping alright, it was a huge shock but you are a close knit family and are holding each other together.
You are a student at Leeds University, studying philosophy. Your lecturer has been brilliant and given you an some compassionate leave and an extension for your coursework. You live in a student flat with 2 other girls, and the rest of your family are from Wakefield so you see them quite a lot. You do not smoke, you rarely drink alcohol.
Ideas: you want to know more about this disease- was the internet stuff correct? What will it mean if you have it? Is there any treatment? Why wasnt it picked up earlier in your dad?
Concerns: with your tiredness and skin tone you think there is a strong possibility that you have it too.
Expectations: to discuss about the condition with the doctor and get tested
How to react: The doctor may suggest that your tiredness is more related to the recent situation with your father - it must have been tiring to go to uni then spend time at the hospital and look after your family too. However they shoulder be able to explain the condition with confidence to you, and how it can be inherited. Hopefully they will reassure you that you are young and the diagnosis is made with blood tests. They should ideally offer to check a few things - for example your blood count, kidneys, liver, glucose for diabetes, and then the iron tests that suggest haemochromatosis. If these are positive, you will be referred to a specialist for further tests. There are treatments that are very successful, usually involving removing blood from the body periodically or taking tablets to reduce the iron levels. If you are happy with the explanation and management plan, accept the testing and thank the doctor. If you feel they are not confident or lacking in detail, ask more questions (see ideas section) to clarify things. If their plan is to refer you straight away to a specialist, try to probe them on what they will do/test for.
Examination Findings
Examination
Skin does not appear tanned
Pulse 91
BP 119/71
RR 19
Normal heart sounds and apex beat location
Chest clear
Abdomen soft, non tender, no organomegaly
Skin does not appear tanned
Pulse 91
BP 119/71
RR 19
Normal heart sounds and apex beat location
Chest clear
Abdomen soft, non tender, no organomegaly
Mark scheme
Data Gathering
|
POSITIVE INDICATORS
Organised and systematic in gathering information from history taking, examination and investigation - makes blood borne virus risk assessment Identifies abnormal results and/or recognises their implications Data gathering does appears to be guided by the probabilities of disease Undertakes physical examination competently |
NEGATIVE INDICATORS
Makes immediate assumptions about the problem Intervenes rather than using appropriate expectant management Is disorganised/unsystematic in gathering information Fails to identify abnormal data or correctly interpret them |
Clinical Management Skills
|
POSITIVE INDICATORS
Makes appropriate diagnosis Develops a management plan (including prescribing and referral) that is appropriate and in line with current best practice Makes plans that reflect the natural history of common problems Management approaches reflect an appropriate assessment of risk Refers appropriately & co-ordinates care with other healthcare professionals Manages risk effectively, safety netting appropriately Encourages the patient to participate in appropriate health promotion particularly alcohol reduction |
NEGATIVE INDICATORS
Inappropriate or incorrect diagnosis Does not suggest how the problem might develop or resolve Fails to make the patient aware of relative risks of different approaches Decisions on whether & where to refer are inappropriate. Follow-up arrangements are absent or disjointed Unable to enhance patient’s health perceptions and coping strategies |
Inter Personal Skills
|
POSITIVE INDICATORS
Identify patient’s agenda, health beliefs & preferences Works with the patient to develop a shared management plan Uses explanations that are relevant and understandable to the patient Shows sensitivity for the patient’s feelings in all aspects of the consultation including physical examination |
NEGATIVE INDICATORS
Doesn't enquire about patients ICE Takes a doctor centered approach towards management Uses an explanation that is filled with jargon, or forgets to explain at all Doesn't show any sympathy / empathy towards the patient's situation Fails to empower patient Quick to judge |
Management
Explanation: Hepatitis C is a disease that is carried in the blood, and can damage the liver. Most often it is passed between people by sharing needles, having blood transfusions when the blood has not been checked for infections, or through sexual contact. Some people can clear the virus completely, while in other people it persists. There are treatments available for the infection, but come people will go on to have permanent liver damage.
Hepatitis C:
Is a RNA virus, which is thought to affect around 5 in 1000 in the UK. Risk factors for Hepatitis C are outlined below - it's important to ask about these when you're taking a Hep C history:
Hepatitis C:
Is a RNA virus, which is thought to affect around 5 in 1000 in the UK. Risk factors for Hepatitis C are outlined below - it's important to ask about these when you're taking a Hep C history:
- Hepatitis C is caused by a blood-borne virus, so people who have been exposed to another person's blood are most at risk.
- Sharing of injecting equipment and other drug paraphernalia
- Blood transfusions and blood products - Received blood in UK before 1991, or in certain other countries.
- Tattoos / piercings
- Household contact and sharing toiletry items
- There is a small theoretical risk from sharing items such as toothbrushes, razors, and other toiletry items that could be contaminated with blood.
- Needlestick injuries
- There is an estimated ~1% chance of a healthcare worker being infected with hepatitis C if they have a needlestick injury while treating a person who is infected with hepatitis C.
- Mother to baby transmission is considered to be a small, but possible, risk.
- 6% risk of mother - child transmission if active / chronic
- Transmission is not prevented by Caesarean section.
- Sexual transmission
- Countries where hepatitis C is endemic
- Procedures that pose a particular risk to the traveller include therapeutic injections, blood transfusions, haemodialysis, and surgical treatment.
Prognosis:
Of those who catch Hep C, 25% will clear it, and around 75% will go on to develop a chronic infection. Of those with a chronic infection most (80%) will go on to develop hepatitis. Those with hepatitis, are then at an increased risk of developing hepatocellular carcinoma or liver failure.
Diagnosis
Clinically it is difficult to diagnose hep C because the initial prodrome can be very similar to a normal viral illness. Screening those at risk is the usual method of picking up infection, or completing a liver screen in those with abnormal LFTs. A diagnosis of hep c is not only significant for health reasons, but will also affect insurance policies and mortgages.
Interpreting results can be stressful, especially when you are under pressure. With hep c, the antibody is checked first. If the antibody test is negative, then it may need repeating, especially if the first test is within the 'window' period of 3-6 months. A positive antibody test would then require a further blood test to check: HCV RNA. If positive the patient has active (chronic) hep c. If the antibody test is negative, they should have the test repeated again in 6 months time.[NICE CKS]
Management
Giving verbal and written information is the next step, explaining the progression, the need to get specialists involved, and that there are now treatments than can clear the infection in approximately 50% of people. The most important factor that affects disease progression is alcohol intake, and the patient should be strongly advised to avoid alcohol. Hep C can continue to be passed on, so the patient should avoid sharing personal items like razors, needles etc, and practice safe sex. Sexual contacts should be traced so they can also be screened. There is usually a protocol to refer these patients on to hepatology for assessment and treatment.
Whilst awaiting a referral to see the specialist, it may be wise to request some further tests including: HIV screen, Hepatitis A, Ferritin, Glucose and repeat LFT's
Of those who catch Hep C, 25% will clear it, and around 75% will go on to develop a chronic infection. Of those with a chronic infection most (80%) will go on to develop hepatitis. Those with hepatitis, are then at an increased risk of developing hepatocellular carcinoma or liver failure.
Diagnosis
Clinically it is difficult to diagnose hep C because the initial prodrome can be very similar to a normal viral illness. Screening those at risk is the usual method of picking up infection, or completing a liver screen in those with abnormal LFTs. A diagnosis of hep c is not only significant for health reasons, but will also affect insurance policies and mortgages.
Interpreting results can be stressful, especially when you are under pressure. With hep c, the antibody is checked first. If the antibody test is negative, then it may need repeating, especially if the first test is within the 'window' period of 3-6 months. A positive antibody test would then require a further blood test to check: HCV RNA. If positive the patient has active (chronic) hep c. If the antibody test is negative, they should have the test repeated again in 6 months time.[NICE CKS]
Management
Giving verbal and written information is the next step, explaining the progression, the need to get specialists involved, and that there are now treatments than can clear the infection in approximately 50% of people. The most important factor that affects disease progression is alcohol intake, and the patient should be strongly advised to avoid alcohol. Hep C can continue to be passed on, so the patient should avoid sharing personal items like razors, needles etc, and practice safe sex. Sexual contacts should be traced so they can also be screened. There is usually a protocol to refer these patients on to hepatology for assessment and treatment.
Whilst awaiting a referral to see the specialist, it may be wise to request some further tests including: HIV screen, Hepatitis A, Ferritin, Glucose and repeat LFT's