Congenital Erythropoietic Porphyria

Congenital Erythropoietic Porphyria

Brain & Nerve
Digestive Health
Contributed byLester Fahrner, MD+1 moreMay 22, 2023

What are the other Names for this Condition? (Also known as/Synonyms)

  • CEP (Congenital Erythropoietic Porphyria)
  • Günther’s Disease
  • Uroporphyrinogen III Synthase Deficiency Disorder

What is Congenital Erythropoietic Porphyria? (Definition/Background Information)

  • Congenital Erythropoietic Porphyria (CEP) is a rare, genetic, skin condition usually presenting in young children. In this condition, the skin is severely sensitive to light, which often presents as stinging and redness. Scarring, blistering, and hair growth on the hands/face can result over time 
  • Porphyrias are disorders resulting from excess porphyrin buildup. Manufacturing hemoglobin and related proteins involves a class of molecules called porphyrins. Porphyrias are either inherited or acquired, and are described as acute, chronic, and cutaneous
  • Congenital Erythropoietic Porphyria is a cutaneous inherited form of porphyria that is caused by a heritable gene mutation in the UROS gene, which causes a defect in heme production in bone marrow. CEP leads to an accumulation of porphyrin resulting in the set of signs and  symptoms noted above
  • A healthcare provider typically diagnoses this genetic disorder by testing blood or other bodily fluids of the affected individual for gene mutations known to cause Congenital Erythropoietic Porphyria
  • The treatments for Congenital Erythropoietic Porphyria may involve a series of blood transfusions or a bone marrow transplant. In addition, general skin protection and care may be recommended for conservative treatment of the symptoms
  • The prognosis of Congenital Erythropoietic Porphyria is determined by the severity of symptoms and whether complications such as severe anemia, enlarged spleen, fragility of bones, and excessive scarring  have developed

Who gets Congenital Erythropoietic Porphyria? (Age and Sex Distribution)

  • Congenital Erythropoietic Porphyria is a rare genetic condition affecting approximately 1 in 2 million individuals globally
  • Infants and young children are more prone to be diagnosed with  the condition, although there are reports of an adult-onset disorder
  • The disorder occurs without gender, racial, or ethnic bias

What are the Risk Factors for Congenital Erythropoietic Porphyria? (Predisposing Factors)

  • A family history of Congenital Erythropoietic Porphyria (CEP) increases the risk of a newborn being diagnosed with the condition, since CEP is an inherited disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Erythropoietic Porphyria? (Etiology)

Congenital Erythropoietic Porphyria is caused by one or several mutations in the UROS gene.

  • Under normal circumstances, this gene codes an enzyme called uroporphyrinogen III synthase (UROS), which is involved in the production of “heme”
    • Heme is generated by a sequence of biosynthetic steps in the human body. The UROS III enzyme is a crucial component in step-4 (metabolism of the porphyrin compound) of a multistep process of generating heme 
    • Heme is a critical component of iron-containing proteins called hemoproteins. Hemoglobin is one such protein, which is the oxygen carrier in blood
    • Blood, bone marrow, and liver have the most hemoprotein in them
  • Mutations in this gene cause a decrease in porphyrin metabolism
    • A compromised porphyrin metabolism causes a buildup of porphyrins in the body
    • Excess porphyrins circulate throughout the body and deposit in tissues, causing damage, light sensitization, and other related issues from early childhood onwards
    • Light passing through skin and other tissues activates the excessive porphyrins to initiate increased inflammation which damages the adjacent tissues 

Mutations in UROS gene are inherited in an autosomal recessive manner. In this type of inheritance, an individual must possess both copies of the causative gene in the defective form in each cell of his/her body for the condition to manifest itself. An affected individual inherits one defective copy of the causative gene from each parent. The parents are carriers of the condition and typically remain unaffected.

What are the Signs and Symptoms of Congenital Erythropoietic Porphyria?

The various signs and symptoms of Congenital Erythropoietic Porphyria stem from porphyrin buildup in the body and may include:

  • Light-sensitivity - the skin gets burnt on sun exposure
  • Blistering of the skin; formation of blisters  (vesicles) on the skin
  • The skin becomes weak and fragile over time
  • Change of skin pigmentation and skin thickening 
  • Recurrent skin infections
  • Abnormal scarring of the skin
  • Abnormal color of urine (reddish)
  • Hemolytic anemia (destruction of red blood cells)
  • Brown or red staining of the teeth, which fluoresce in UV light 
  • Abnormal fingers and nails
  • Hypertrichosis (abnormal hair growth)
  • Splenomegaly (spleen enlargement)

How is Congenital Erythropoietic Porphyria Diagnosed?

The diagnosis of Congenital Erythropoietic Porphyria is made by the following tools:

  • A complete physical examination and an assessment of symptoms
  • An evaluation of the affected individual’s full medical history
  • Measurement of the porphyrin levels in blood, urine, or feces
  • Measurement of UROS enzyme activity
  • Molecular genetic testing before or after birth, to confirm UROS gene mutation(s) 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Erythropoietic Porphyria?

The potential complications of Congenital Erythropoietic Porphyria may include:

  • Severe deformation of the skin or extremities over time
  • Anemia and other conditions, due to low levels of oxygen transport
  • Severe emotional stress due to cosmetic concerns
  • Bacterial infections following characteristic blistering of the skin, which is even known to result in death

How is Congenital Erythropoietic Porphyria Treated?

A treatment of Congenital Erythropoietic Porphyria symptoms may be undertaken and the treatment measures include:

  • Frequent blood transfusions, based on the severity of anemia
  • A splenectomy (removal of the spleen) to alleviate bleeding and worsening anemia (due to spleen enlargement)
  • Bone marrow transplant: This procedure is often reserved only for those who have extremely severe cases of CEP due to the risk of rejection and associated complications

Skin-related recommendations for affected individuals include the following:

  • Avoiding direct exposure to sunlight
  • Application of topical sunscreens
  • Use of clothing, hats, and time of day restrictions
  • Vitamin D deficiency can occur because of light avoidance. Treating with oral vitamin D to appropriate levels may be recommended

How can Congenital Erythropoietic Porphyria be Prevented?

Currently, there are no specific methods or guidelines to prevent Congenital Erythropoietic Porphyria since it is a genetic condition.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited genetic disorders such as Congenital Erythropoietic Porphyria

Regular medical screening at periodic intervals with tests and physical examinations are highly recommended.

What is the Prognosis of Congenital Erythropoietic Porphyria? (Outcomes/Resolutions)

  • The prognosis of Congenital Erythropoietic Porphyria (CEP) varies with the severity of the condition. It is generally assessed on a case-by-case basis
  • CEP may result in severe signs and symptoms, which can lead to significant morbidity and/or death, if the symptoms and complications are not adequately addressed

Additional and Relevant Useful Information for Congenital Erythropoietic Porphyria:

Congenital Erythropoietic Porphyria is among the rarest type of several types of porphyria. It is also one of the few forms of porphyria that is inherited recessively (i.e., most are inherited as dominant mutations).

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On the Article

Krish Tangella MD, MBA picture
Approved by

Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team
Lester Fahrner, MD picture
Reviewed by

Lester Fahrner, MD

Chief Medical Officer, DoveMed Team


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