Clinical Guidance

The natural history of X-linked protoporphyria (XLP) is not as well characterized as that of the autosomal recessive type of erythropoietic protoporphyria (EPP-AR) . A natural history study from the US described 22 individuals with XLP from seven unrelated families .

XLP in Males

Diagnostic Criteria

There are no established guidelines or diagnostic algorithms.

Suggestive Findings

X-linked protoporphyria (XLP) should be suspected in individuals with the following clinical findings and initial laboratory findings.

Clinical findings

• Cutaneous photosensitivity, usually beginning in childhood

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with X-linked protoporphyria (XLP), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended :

Surveillance Guidelines

Table 4.

Recommended Surveillance for Individuals with X-Linked Protoporphyria

System/Concern | Evaluation | Frequency

Erythrocyte

protoporphyrin levels

plasma total porphyrins | Both free zinc-chelated | Annually

Anemia