E80.20

Applicable To

• Porphyria NOS

Approximate Synonyms

• Disorder of porphyrin metabolism

• Porphyria

• Porphyrin metabolism disorder

• Porphyrinuria

• Porphyruria

Clinical Information

• A disease characterized by the presence of large amounts of porphyrins in the blood and urine

• A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of heme in the liver, the bone marrow, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological acute) or cutaneous skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

• A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis.

• Group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.

• Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. Porphyrias affect the skin or the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest or abdomen, vomiting, and diarrhea or constipation. During an attack, symptoms can include muscle numbness, tingling, paralysis, cramping, and personality or mental changes. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine and stool tests. Each type has a different treatment. It usually involves medicine, treatment with heme or drawing blood.

Details

• E80.20 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E80.20 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E80.20 – other international versions of ICD-10 E80.20 may differ.