Which porphyria has photosensitivity?

Porphyrias where the water-soluble uroporphyrin and coproporphyrin accumulate, manifest with delayed, blistering photosensitivity, whereas in protoporphyrias, where the lipid-soluble protoporphyrin IX accumulates, manifest as immediate painful photosensitivity.

What causes photosensitivity in porphyria?

The acute neurovisceral syndrome is caused by the accumulation of the neurotoxic porphyrin precursors, delta aminolevulinic acid, and porphobilinogen; the syndrome of immediate painful photosensitivity is caused by the lipid-soluble protoporphyrin IX and, the syndrome of delayed blistering photosensitivity, caused by …

Are porphyrins photosensitive?

In six of the eight described porphyrias, the main clinical feature is skin photosensitivity brought about by the action of light on porphyrins, which are deposited in the upper epidermal layer of the skin.

What causes erythropoietic protoporphyria?

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.

Which porphyria is not present with photosensitivity?

2 Acute Intermittent Porphyria Acute intermittent porphyria (AIP) is a common form in humans characterized by acute abdominal pain and neurological symptoms. Photosensitivity is not a feature of this form.

What is the wavelength of light responsible for sensitivity in porphyria?

The resulting photosensitivity is activated by exposure to ultraviolet (UV) light with a maximum susceptibility at a wavelength of 400nm. Histology.

How does the sun affect porphyria?

Porphyria cutanea tarda (PCT) is the most common type of all the porphyrias. As a result of sun exposure, you may experience: Sensitivity to the sun and sometimes artificial light, causing burning pain. Sudden painful skin redness (erythema) and swelling (edema.

Can erythropoietic protoporphyria be cured?

Erythropoietic protoporphyria is an inherited condition due to the mutation of ferrochelatase, which is the final enzyme in the heme biosynthesis cycle. [16] There is no definitive treatment for EPP, and it is best managed by an interprofessional team to deal with all the complications.

What is elevated in erythropoietic protoporphyria?

Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.

Why is photosensitivity absent in acute intermittent porphyria?

Since the porphyrin precursors do not cause light sensitivity and tissue porphyrins are not markedly increased most patients with AIP are not light sensitive.

Is acute intermittent porphyria photosensitivity?

Acute intermittent porphyria (AIP) is a common form in humans characterized by acute abdominal pain and neurological symptoms. Photosensitivity is not a feature of this form.

Why are porphyrins fluorescent?

Porphyrins absorb light maximally at wavelengths near 400nm (the Soret band) and enter an excited energy state that is manifested by fluorescence and, in the presence of molecular oxygen, by the formation of singlet oxygen and other oxygen species that can produce tissue damage.

How common is erythropoietic protoporphyria?

They are the most common Porphyria in children. EPP is caused by a lack of the enzyme, ferrochelatase due to mutations in the FECH gene. Erythropoietic Protoporphyria affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals.

What is erythropoietic protoporphyria disease?

Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.

What is CEP porphyria?

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen III synthase (UROS), the fourth enzyme in the heme biosynthetic pathway.

What are the symptoms of acute intermittent porphyria?

Acute intermittent porphyria, which causes abdominal pain and neurologic symptoms, is the most common acute porphyria. Many people never experience symptoms. Symptoms may include vomiting, abdominal or back pain, weakness in arms or legs, and mental symptoms.

What is erythropoietic protoporphyria?

Erythropoietic protoporphyria is an inherited condition due to the mutation of ferrochelatase, which is the final enzyme in the heme biosynthesis cycle.[16] There is no definitive treatment for EPP, and it is best managed by an interprofessional team to deal with all the complications.

How is X-linked protoporphyria differentiated from EPP?

A higher ratio of zinc-bound protoporphyrin to metal-free protoporphyrin can differentiate X-linked protoporphyria from EPP. Molecular genetic testing can confirm a diagnosis of X-linked protoporphyria by detecting mutations in the ALAS2 gene (the only gene known to cause this disorder).

What causes high protoporphyrin levels?

It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. The severity varies significantly from individual to individual.

What causes myeloproliferative disorder secondary to late-onset protoporphyria?

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. [Blood. 2006]