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Types of Porphyria and Their Symptoms

Milia, Photosensitivity, Porphyria

There are two types of porphyria, cutaneous porphyria and acute porphyria; under the two types of are several subtypes. The symptoms of porphyria will depend on which enzyme is deficient; each form of the disease is characterized by its deficient enzyme. There are at least 8 types (2 groups of 4) of porphyria which fall under the cutaneous and acute groups. The cutaneous group of porphyrias is also called chronic porphyrias. When the singular word porphyria is used, it refers to the group, and when the plural word is used, it refers to more than one type or subtype of porphyria.

Symptoms of cutaneous porphyria

The cutaneous porphyrias affect the skin; therefore, the skin is very sensitive to the rays of the sun. The skin is likely to turn red, and then blister up. After blistering, scarring is likely to occur.

Symptoms of acute (hepatic) porphyria

The acute porphyrias involve the nervous system. The possible symptoms include:

Muscle pain

Muscle weakness

Pain in the extremities

Back pain

Abdominal pain

Liver dysfunction

Jaundice

Numbness or tingling

Emotional distress

Changes in personality

Mental instability

Red colored urine

Subtypes of acute porphyria

Acute intermittent porphyria – Acute intermittent porphyria is caused by an uncontrolled increase of ALA synthrase enzyme receptors. This anomaly can be brought on by hypoglycemia and by certain numbing drugs used for local anesthetics. Anyone having this type of porphyria should inform their doctor or dentist before any anesthetic is administered.

Doss porphyria -Doss porphyria is caused by a deficiency in the enzyme called ALA dehydratase. This is an extremely rare form of porphyria which causes abdominal pain and several types of neuropathies.

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Hereditary coproporphyria – Hereditary coproporphyria is caused by a 50 percent deficiency of the coproporphyrin oxidase enzyme. The symptoms include skin sensitivity to sunlight, neurological disorders, behavioral problems and abdominal pain.

Variegate porphyria – Variegate porphyria is caused by a partial defect of protoporphyrinogen oxidase enzyme activity. The symptoms include problems with the sympathetic nervous system which can lead to organ failure. This form of porphyria is more common in South Africa.

Subtypes of cutaneous porphyria

Erythropoietic porphyria – Erythropoietic porphyria is caused by an accumulation of the protoporphyrin molecule. The molecule is stimulated by light energy which causes free radicals to be released. The symptoms of erythropoietic porphyria are liver disease; liver failure is rare, photosensitivity to all of the body’s tissues that are exposed to light.

Congenital erythropoietic porphyria – Congenital erythropoietic porphyria is caused by a deficiency in the uroporphyrinogen III synthrase enzyme; this condition is also known as Gunther’s disease. This is one of the rarest forms of porphyria. The symptoms of congenital erythropoietic porphyria are rashes on the skin, blistering of the skin, red colored urine and blindness.

Hepatoerythropoietic porphyria – Hepatoerythropoietic porphyria is extremely rare; it is caused by a deficiency of the uroporphyrinogen decarboxylase enzyme. This condition is characterized by an overabundance of porphyrins in the red blood cells, bone marrow, plasma, liver, urine and feces. The symptoms include blistering of the skin when exposed to sunlight and red colored urine. Cortical atrophy (brain cell degeneration) may cause problems with cognition which could result in dementia.

Porphyria cutanea tarda – Porphyria cutanea tarda is an acquired disorder which is caused by a deficiency of the uroporphyrinogen decarboxylase enzyme, which is due to heredity. The symptoms of porphyria cutanea tarda are fragile skin, erosion of the skin (especially on the nose, lips and ears). Other symptoms include large fluid filled blisters called bullae, keratin-filled cysts called milia, and fluid filled cysts called vesicles. There may also be excessive growth of body hair, and the skin may thicken, and become ulcerated. Hyperpigmentation of the skin in places may cause the skin to have a mottled appearance.

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Conclusion

There is no one cause of porphyria, because porphyria is a group of diseases. Most of the types of porphyria are inherited; rarely is any type of porphyria acquired. Porphyria cutanea tarda is one form of the disease which is not caused by an inherited gene mutation. Some types of the disease are inherited by an autosomal dominant trait of gene mutation and others are caused by autosomal recessive trait of gene mutation. Autosomal dominant trait mutation is when you only have to get the defective gene from one parent; one copy of the defective gene is necessary for the disease to take place. Autosomal recessive trait mutation happens when you get the defective genes from both parents; two copies of the defective genes must be present to cause the disease.

The diagnosis and treatment options for the porphyrias will be discussed in a future article.

Sources:

http://www.genome.gov/19016728#al-2

http://emedicine.medscape.com/article/1389981-overview#DrugstoAvoid

http://ghr.nlm.nih.gov/condition/porphyria

http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm

http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm