Disorders of porphyrin metabolism

This code represents a group of rare genetic or acquired conditions resulting from abnormalities in the biochemical pathway responsible for producing heme, a component of hemoglobin. These disorders lead to an accumulation of porphyrin precursors or porphyrins, which can cause a variety of symptoms affecting the skin, nervous system, and internal organs.

Use this code for patients diagnosed with any form of porphyria, such as acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), congenital erythropoietic porphyria (CEP), or variegate porphyria. Documentation should clearly state the specific type of porphyria or indicate a general disorder of porphyrin metabolism based on clinical findings and laboratory confirmation of elevated porphyrins or their precursors.

• Always strive to code to the highest level of specificity if a more detailed ICD-9-CM code for a specific type of porphyria is available.
• Distinguish between acute porphyric attacks and chronic manifestations; additional codes may be necessary for associated symptoms or complications.
• Ensure laboratory results confirming porphyrin abnormalities are present in the medical record to support the diagnosis.