Question

Dale is 55 year old man who has been feeling ill over the last week. He has had episodes of vomiting and sweating. He assumes that he is suffering from the stomach flu that his grandchildren had two weeks ago. After not being able to “kick” the bug, he sees his family physician. The only other symptom he reports is a pulled muscle in his chest while shoveling snow about a week ago. Below are his chemistry results.

NA+	139 mmol/L	AST	70 U/L
K+	3.8 mmol/L	ALT	49 U/L
Cl-	104 mmol/L	CK	502 U/L
CO2	23 mmol/L	LD	365 U/L
Calcium	10.0 mg/dL	ALP	72 U/L
Phosphorus	3.9 mg/dL	Cholesterol	178 mg/dL
Glucose	105 mg/dL	HDL	19 mg/dL
BUN	24mg/dL	Triglycerides	424 mg/dL
Creatinine	0.9 mg/dL

Questions:

1. What laboratory tests are abnormal? BUN, glucose, AST, CK and triglycerides are increased and HDL is decreased
   
2. What other tests would be beneficial in the diagnosis of this patient?
   
3. Can we determine if this patient has had an AMI? Why or why not?
   
4. What were some factors that would increase Dale’s risk of an AMI?

Part III:

Samuel is a 38-year-old male gardener. He visited his family physician because of skin lesions on his hands that began as mild erythematous changes which developed into painful blisters. The blisters first began erupting during the late spring months. The patient indicated no history of allergic contact dermatitis or other drug or food allergies. The patient consumed about 3-4 12 oz. bottles of beer daily. He showed signs of facial hyperpigmentation with some scarring predominantly in regions of the forehead.

Na+	136 mmol/L
K+	4.5 mmol/L
Cl-	102 mmol/L
HCO3-	26 mmol/L
Glucose	163 mg/dL
BUN	13 mg/dL
AST	115 U/L
ALT	154 U/L
ALP	176 U/L

Questions:

1. What clinical symptoms suggest porphyria is present in this patient?
2. What lab data are consistent with a presumptive diagnosis of porphyria?
3. What is the most likely type of porphyria present in this patient? Why?
4. What additional lab data would be helpful in confirming the diagnosis?

Answer 1

The following laboratory tests are abnormal

• BUN:increased (7 _20mg/dL)
• AST:increased (10_40 U/dL)
• CK:increased (22_198 U/L)
• HDL:Decreased(40_59mg/dL)
• Triglycerides :increased (<150mg/dL)

The lab test like increased level of ALT ,AST and ALP are presumptive diagnosis of porphyria

The other test which can be used in diagnosis are

• ECG:to know the cardiac activity mainly its rhythm and heart beat. Any abnormality inbthe conduction due to muscle damage
• Trop T and Trop I (more specific) can be beneficial to identify the exact diagnosis

The patient AST level and CK levels are increased which usually happens after an insult or injury to the heart muscles.This remains elevated for a specific period of time after infarction.This level indicates the patient might had a acute myocardial infarction

The decreased level of HDL ,increases  Mr.Dale at risk of an AMI

Part III

Porphyria refers to the presence of excess porphrin which is needed to give red colour to the heme.The symptoms like painful blister, hyperpigmentation,skin lesions on hands are typical symptoms associated with skin porphyria

There are two types of porphyria acute porphyria (affects nerves) and cutaneous porphyria (affects skin).Here the patient is having cutaneous porphyria

Checking porphyria levels in the urine and red blood cells can confirm cutaneous porphyria. DNA test can be done to specify the genetic mutation