Porphyria

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Porphyria cutanea tarda on the hands

Overview

Symptoms

Treatment

Prevention

Porphyria

Alternative Names:

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

Symptoms:

Red urine
Sensitivity to sunlight
Blister (bulla) formation on exposure to sunlight
Skin swelling (edema) on exposure to sunlight
Photodermatitis
Crampy abdominal pain (may be extremely severe)
Constipation
Vomiting
Pain in the limbs
Pain in the back
Personality change
Numbness or tingling
Muscle pain
Muscle weakness or paralysis

Signs and tests:

Tachycardia
Loss of deep tendon reflexes
Electrolyte changes (see chem-20) - hyponatremia
Decreased kidney function as may be shown by the following tests:
- Urinalysis
- Serum creatinine
- Creatinine clearance
- BUN
- Serum potassium
- Arterial blood gases

TESTS

PROTO blood test (measures porphyrins in the blood)
Enzyme assay for:
- Uroporphyrinogen decarboxylase
- Protoporphyrinogen oxidase
- Porphobilinogen (PBG) deaminase
- Coproporphyrinogen oxidase
- ALA dehydratase
- Uroporphyrinogen III cosynthase
- Ferrochelatase

Review Date: 1/26/2005
Reviewed By: Rita Nanda, MD., Department of Hematology/Oncology, University of Chicago Medical Center, Chicago, IL. Review provided by VeriMed Healthcare Network.

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