Case Eleven A 29 year old caucasian female was seen at the university health cen

Question

Case Eleven

A 29 year old caucasian female was seen at the university health center. She was generally in good health, but had a history of Hashimoto's thyroiditis. She had been on several vacations to the Caribbean and each time, she returned to the United States she developed a mild blistering rash that she attributed to sun exposure. When questioned, she admitted to having bouts of constipation and intermittent crampy abdominal pain. A CMP and TSH were performed and the results were WNL. She was evaluated by a dermatology resident for possible porphyria. The results of her laboratory tests revealed:

Patient

Reference Range

Urine coproporphyrins

592

8-110 ug/dL

Urine PBG

17

0-4 mg/L

Urine Porphyrins

520

20-320 nmol/L

Fecal coproporphyrins

86,000

0-499 ug/dL

Plasma porphyrins

0.7

0-0.9 ug/dL

1. The patient was evaluated for possible porphyria. What are the different types of porphyria?

2. Do the lab results indicate a porphyria, if so which one?

3. What are the key tests for diagnosing porphyria?

Patient

Reference Range

Urine coproporphyrins

592

8-110 ug/dL

Urine PBG

17

0-4 mg/L

Urine Porphyrins

520

20-320 nmol/L

Fecal coproporphyrins

86,000

0-499 ug/dL

Plasma porphyrins

0.7

0-0.9 ug/dL

Explanation / Answer

1Ans:

Porphyria is a group of disorders that can cause nerve or skin problems. It is a inherited disease due to annormal gene from one or both parents. Porphyrin accumulates in the blood and tissues causes nervous system, skin and other organs too. There are mailny two types of porphyria

a) Acute Porphyria : It affects in nerou system

b) Cutaneous Porphyria : It affects in skin. One type of cutaneous porphyria, porphyria cutanea tarda (PCT), can also be triggered by environmental factors, such as heavy alcohol consumption or iron supplements. For this reason, PCT is the most common form of porphyria.

2Ans:

All mentioned tests are related to rule out porphyria. but each test reveals different types of porphyria.

3Ans:

Enzyme testing may be used to confirm the diagnosis of acute intermittent porphyria (by measuring porphobilinogen deaminase in red blood cells).

A urine test for porphobilinogen

Urine porphyrin

Fecal porphyrins

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