pjp9494
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A 28-year-old male consulted his general practitioner complaining of fatigue and low energy. On questioning, the patient admitted to similar symptoms over a period of several years. The patient had attributed the fatigue to his job. The patient worked a mix of day and night shifts and assumed his symptoms were caused by his altered sleep pattern. There was no significant past medical history; no recent travel; no history of drug or alcohol abuse. The following test results were obtained from a panel screen:

Total and differential white cell count were normal.

Patient Value
Normal Range
Hb
17.1 g/L
(11.5-18)
Na+
137 mmol/L
(135-145)
K+
3.6 mmol/L
(3.4-4.9)
Urea
6.0 mmol/L
(2.5-8.0)
Creatinine
78 μmol/L
(40-130)
Bilirubin
14 μmol/L
(3-23)
ALT
175 U/L
(3-55)
Alk Phos
70 U/L
(30-130)
TSH
2.3 mU/L
(0.4-4.0)
fT4
16 pmol/L
(9-22)
Iron
36 μmol/L
(5-32)
Transferrin
1.5 g/L
(2.1-4)
Ferritin
67 μg/L
(30-240)
Transferrin Saturation
96 %
(20-55)


1. Describe the biochemical abnormalities and suggest possible diagnoses.
2. How can the diagnosis be confirmed?
3. If left untreated, what is the usual course of the disease?

CASE STUDY 2:
A 21-year-old female was brought to the emergency room with complaints of severe abdominal pain and vomiting. Her clinical history revealed that this was her third admission in the last 18 months, with similar symptoms, but no diagnosis had been made. Previous routine blood tests and abdominal ultrasound had been normal and her symptoms had settled with pain relief and supportive management. On examination, there was diffuse abdominal tenderness but no rigidity; systemic examination was unremarkable. Blood was collected for routine tests, as well as urine for dipstick testing. The nurse doing the dipstick testing noticed that it was very dark colored and was surprised when it turned out to be negative for protein, blood, nitrites and bilirubin. The following test results were obtained from a panel screen:

Total and differential white cell count were normal.

Patient Value
Normal Range
Na+
131 mmol/L
(135-145)
K+
4.2 mmol/L
(3.4-4.9)
Urea
3.8 mmol/L
(2.5-8.0)
Creatinine
89 μmol/L
(40-130)
Adj Calcium
2.35 mmol/L
(2.20-2.60)
Phosphate
0.9 mmol/L
(0.7-1.4)
Albumin
40 g/L
(35-50)
ALT
33 U/L
(3-55)
Alk Phos
77 U/L
(30-130)
Bilirubin
8 μmol/L
(3-23)
Amylase
68 U/L
(0-100)
HCG
<3 U/L
(<3)

1. Describe the biochemical abnormalities and suggest possible diagnoses.
2. How can the diagnosis be confirmed?
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Jpw1097
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(Original post by pjp9494)
A 28-year-old male consulted his general practitioner complaining of fatigue and low energy. On questioning, the patient admitted to similar symptoms over a period of several years. The patient had attributed the fatigue to his job. The patient worked a mix of day and night shifts and assumed his symptoms were caused by his altered sleep pattern. There was no significant past medical history; no recent travel; no history of drug or alcohol abuse. The following test results were obtained from a panel screen:

Total and differential white cell count were normal.

Patient Value
Normal Range
Hb
17.1 g/L
(11.5-18)
Na+
137 mmol/L
(135-145)
K+
3.6 mmol/L
(3.4-4.9)
Urea
6.0 mmol/L
(2.5-8.0)
Creatinine
78 μmol/L
(40-130)
Bilirubin
14 μmol/L
(3-23)
ALT
175 U/L
(3-55)
Alk Phos
70 U/L
(30-130)
TSH
2.3 mU/L
(0.4-4.0)
fT4
16 pmol/L
(9-22)
Iron
36 μmol/L
(5-32)
Transferrin
1.5 g/L
(2.1-4)
Ferritin
67 μg/L
(30-240)
Transferrin Saturation
96 %
(20-55)


1. Describe the biochemical abnormalities and suggest possible diagnoses.
2. How can the diagnosis be confirmed?
3. If left untreated, what is the usual course of the disease?

CASE STUDY 2:
A 21-year-old female was brought to the emergency room with complaints of severe abdominal pain and vomiting. Her clinical history revealed that this was her third admission in the last 18 months, with similar symptoms, but no diagnosis had been made. Previous routine blood tests and abdominal ultrasound had been normal and her symptoms had settled with pain relief and supportive management. On examination, there was diffuse abdominal tenderness but no rigidity; systemic examination was unremarkable. Blood was collected for routine tests, as well as urine for dipstick testing. The nurse doing the dipstick testing noticed that it was very dark colored and was surprised when it turned out to be negative for protein, blood, nitrites and bilirubin. The following test results were obtained from a panel screen:

Total and differential white cell count were normal.

Patient Value
Normal Range
Na+
131 mmol/L
(135-145)
K+
4.2 mmol/L
(3.4-4.9)
Urea
3.8 mmol/L
(2.5-8.0)
Creatinine
89 μmol/L
(40-130)
Adj Calcium
2.35 mmol/L
(2.20-2.60)
Phosphate
0.9 mmol/L
(0.7-1.4)
Albumin
40 g/L
(35-50)
ALT
33 U/L
(3-55)
Alk Phos
77 U/L
(30-130)
Bilirubin
8 μmol/L
(3-23)
Amylase
68 U/L
(0-100)
HCG
<3 U/L
(<3)

1. Describe the biochemical abnormalities and suggest possible diagnoses.
2. How can the diagnosis be confirmed?
These are some interesting cases, I will do my best to help.

For case 1, ALT, iron and transferrin saturation are all raised, transferrin is low and there are no other abnormalities. The raised ALT suggests some liver damage. The raised iron tells you that the patient is iron overloaded (haemochromatosis) - this can be caused by hereditary haemochromatosis or secondary to excessive iron intake (e.g. frequent blood transfusions). Transferrin is low in haemochromatosis. One of the earliest symptoms in patients with hereditary haemochromatosis is fatigue. The iron overload can cause damage to the liver, which explains the elevated ALT - eventually this can cause fibrosis and cirrhosis and increased risk of hepatocellular carcinoma. If untreated, hereditary haemochromatosis can cause iron to accumulate in organs such as the liver, heart, adrenal glands, joints, pituitary, pancreas, etc. causing hepatic fibrosis, cirrhosis, cardiomyopathy, diabetes, hypogonadism/hypopituitarism, hypothyroidism, polyarthropathy, etc. Endocrine organs are particularly susceptible to damage by iron overload. Raised iron in the blood also increases the risk of bacterial infections (bacteraemia) as some bacteria (siderophilic bacteria) love iron. Iron overload can also cause a disease known as porphyria cutanea tarda (the most common porphyria) - which leads to blisters on sun-exposed parts of the body. Hereditary haemochromatosis can be diagnosed by doing genetic testing to look for mutations that cause hereditary haemochromatosis - there are a few different types.

Case 2 is also very interesting. A 21 yo patient with several episodes of abdo pain and vomiting, dark urine and the only electrolyte abnormality is a slightly low sodium. Typical causes of dark urine (e.g. bilirubin, haematuria) have been excluded. I think this is probalby acute intermittent porphyria - this typically presents with episodes of abdo pain, vomiting, low sodium (due to inappropriate ADH secretion, SIADH) and dark urine (usually a purple colour) due to the accummulation of porphyrin precursors in the urine. Diagnosis of an acute attack of acute intermittent porphyria can be made by measuring the level of porphobilinogen (PBG) and aminolevulinic acid (ALA) in the urine, which will be raised. The cause of pain in AIP is not known, it may be caused by so-called 'abdominal angina' or vasospasm causing mesenteric ischaemia, etc.

Hope that helps.
Last edited by Jpw1097; 2 years ago
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