Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.
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.
How do you treat EPP?
Successful bone marrow transplantation with or without liver transplantation, depending upon the severity of the liver disease, is considered the definitive treatment for EPP.
How is erythropoietic Protoporphyria diagnosed?
The diagnosis is made upon finding increased levels of the protoporphyrin in the plasma or red blood cells in both EPP and XLP. Genetic testing is useful to confirm the diagnosis. Patients with EPP and XLP may also have mild anemia (low blood counts). In many cases, this may be due to low iron stores.
What are the symptoms of EPP?
EPP causes skin pain on exposure to sunlight, most often on the tops of the hands and feet, face and ears. Pain can be severe and last days after sun exposure. There may not be anything to see at the time. Prolonged exposure can result in some redness and swelling, and uncommonly in blistering and crusting.
Is Protoporphyria recessive?
Erythropoietic protoporphyria (EPP) is inherited in an autosomal recessive manner.
What part of the body does porphyria affect?
Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.
Why are photosensitivity in congenital erythropoietic porphyria?
Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase (UROS) enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications.
What is porphyria cutanea tarda?
Porphyria cutanea tarda (PCT) is a rare disorder characterized by painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected skin is fragile and may peel or blister after minor trauma. Liver abnormalities may also occur.
What remains elevated consistently in variegate porphyria?
Porphobilinogen (PBG) and Aminolevulenic Acid (ALA), porphyrin precursors, are elevated during the attack but may be consistently high in some patients.
What causes Protoporphyria?
These disorders are usually inherited, meaning they are caused by gene mutations link passed from parents to children. If you have porphyria, cells fail to change chemicals in your body—called porphyrins and porphyrin precursors—into heme, the substance that gives blood its red color.
What is Protoporphyria in cattle?
Bovine congenital erythropoietic protoporphyria is an uncommon genetic defect in Limousin and Blonde d’Aquitaine cattle that is characterized by severe photosensitization. Clinical signs include intense pruritus and exudative dermatitis involving the face, pinnae, and dorsal aspect of the thorax.
Can’t go out in the sun disease?
People who have an extreme sensitivity to sunlight are born with a rare disease known as xeroderma pigmentosum (XP). They must take extreme measures to protect their skin from ultraviolet (UV) light. Anything that emits UV light, including the sun and some lightbulbs, can damage their skin.
What medications should be avoided with porphyria?
Which medications should be avoided by patients with porphyria?
- Barbiturates.
- Anticonvulsants.
- Progestins.
- Rifampin.
How long do porphyria attacks last?
Porphyria attacks typically last 5–7 days , although more severe or prolonged attacks can occur, potentially causing paralysis, respiratory failure, and death . AIP attacks can also lead to frequent hospitalizations , long-term use of opioids , and high rates of unemployment .
Can porphyria cause mental illness?
Acute intermittent porphyria mimics a variety of commonly occurring disorders and thus poses a diagnostic quagmire. Psychiatric manifestations include hysteria, anxiety, depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness ranging from somnolence to coma.
How could porphyria lead to neurological symptoms?
The pathogenesis of porphyric neuropathy is complex but overproduction of ALA via direct neurotoxicity, oxidative damage, and modification of glutamatergic release may initiate the neuronal damage. Acute encephalopathy manifests as a combination of mental symptoms, seizures, SIADH, but rarely focal CNS deficits.
What kind of inheritance is Protoporphyria?
Porphyrias with an autosomal recessive pattern of inheritance include ALAD deficiency porphyria, congenital erythropoietic porphyria, and some cases of erythropoietic protoporphyria. When erythropoietic protoporphyria is caused by mutations in the ALAS2 gene, it has an X-linked dominant pattern of inheritance.
Why does porphyria cause abdominal pain?
Abdominal pain is by far the most serious symptom in attacks of acute intermittent porphyria. Its cause is unknown. This case study suggests visceral ischaemia as a possible cause of the abdominal pain.
Can people with EPP donate blood?
With Erythropoietic Protoporphyria (EPP) and Congenital Erythropoietic Porphyria (CEP) the patient is often anaemic because of the condition. Also in these conditions there are porphyrins in the red cells and red cell life span is reduced so the blood is not suitable for donation.
What is hepatic porphyria?
Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD), hereditary coproporphyria (HCP), and porphyria cutanea tarda (PCT).
What enzyme is deficient in Xlink Protoporphyria?
Related Disorders
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH).