What Is Porphyria?

This disease, also known as hemocyanin, is a group of porphyrin metabolism disorders caused by the lack of certain enzymes or reduced enzyme activity in the heme synthesis pathway. It can be a congenital disease or it can appear the day after tomorrow. The main clinical symptoms include light sensitivity, digestive system symptoms, and neurological symptoms.

Basic Information

nickname: Blood purple disease
English name: porphyria

Visiting department: Department of Hematology, Dermatology
Common symptoms: Light sensitivity, digestive symptoms, neurological symptoms
Contagious: no

Clinical manifestations of porphyria

Porphyria can be classified into 8 types according to enzyme deficiency: X-linked iron granulocyte anemia, ALA dehydratase-deficient porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, late-onset Skin-type porphyria, hereditary faecal porphyria, mixed porphyria, erythropoietic protoporphyria. The following mainly introduces the clinically common delayed skin-type porphyria and erythropoietic protoporphyria.

Delayed-onset skin porphyria is the most common porphyria, caused by urinary porphyrin accumulation due to lack of uroporphyrinogen decarboxylase or decreased activity. The disease is more common in adults, more common in men, and has a history of liver disease or drinking. The rash is severe in summer and light in winter. The clinical manifestations are non-inflammatory blisters and bullae at the exposed area, and erosion, crusting, and ulceration can be seen. Scars, miliaria, pigmentation, and hypopigmentation remain after healing. The brittleness of the skin increases, and an abraded surface can be formed with a slight abrasion, and the skin of the affected area can be hung with nails (positive Dean sign).

Erythropoietic protoporphyrinosis is the second most common porphyria. It is caused by low ferrochelase activity and elevated protoporphyrinogen IV levels, and is autosomal dominant. Most of the children develop the disease, with severe summer and mild winter, manifested as pain, burning sensation in exposed areas after sun exposure, erythema, edema, and wind masses. In severe cases, blisters, blood blister, erosion, and crusting may occur. The recurrence of the rash caused the patient to experience wind-frost-like changes in the face, and linear atrophic scars were visible on the exposed parts of the face and back of the hand. Severe cases may be accompanied by liver disease, and the rash recurs throughout life.

Porphyria test

Histopathology

It showed that the eosinophilic homogeneous substance was deposited in the upper dermis and papillary layers and around the blood vessel wall, and PAS staining was positive. Old skin lesions may be accompanied by thickening of collagen bundles. Blisters can form under the epidermis or the basement membrane band. Direct immunofluorescence showed IgG deposition in the basement membrane.

2. Laboratory inspection

Late-onset skin porphyria is characterized by an increase in uroporphyrin. Urine samples can show coral-colored fluorescence under a Wood lamp. Serum iron can be increased, and transferrin saturation can be increased. Erythropoietic protoporphyria, plasma, red blood cells, and protoporphyrin in feces. Porphyrin was increased, urinary porphyrin was normal, and fecal porphyrin was increased. Red blood cells showed red fluorescence by fluorescence microscopy.