Is porphyria a Variegata?

Is porphyria a Variegata?

Variegate porphyria is a subtype of porphyria. It is an inherited disorder characterised by skin photosensitivity (reaction to light), systemic symptoms arising from neurological problems, or both.

What is variegated porphyria?

Variegate porphyria is a hepatic form of porphyria. Protoporphyrinogen and coproporphyrinogen accumulate in the liver in variegate porphyria because PPOX is deficient, and become oxidized to protoporphyrin and coproporphyrin, which are transported in the blood plasma and cause the skin to be sensitive to sunlight.

What are the 8 types of porphyria?

The specific names of the eight types of porphyrias are:

• Delta-aminolevulinate-dehydratase deficiency porphyria.
• Acute intermittent porphyria.
• Hereditary coproporphyria.
• Variegate porphyria.
• Congenital erythropoietic porphyria.
• Porphyria cutanea tarda.
• Hepatoerythropoitic porphyria.
• Erythropoietic protoporphyria.

What are the two types of porphyria?

There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms.

What is alad porphyria?

ALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms.

Where did porphyria originate?

Some have speculated that major historical figures such as King George III may have had a form of this disorder. Porphyrias result from an overabundance of heme precursors originating in the liver or bone marrow, where red blood cells are produced.

Where is porphyria most common?

Description. Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body’s organs, although it is most abundant in the blood, bone marrow, and liver.

Is porphyria a blood disease?

Porphyrias are a group of rare inherited blood disorders. People with these disorders have problems making a substance called heme in their bodies. Heme is made of body chemicals called porphyrin, which are bound to iron. Heme is a component of hemoglobin, a protein in red blood cells that carries oxygen.

What is the rarest porphyria?

This is a very rare disease with approximately 150 patients reported in the world. congenital erythropoietic porphyria is often manifested shortly after birth with dark urine and sunlight sensitivity causing blistering and skin fragility.

What is the most common porphyria?

The most common type of cutaneous porphyria—and the most common type of porphyria overall—is porphyria cutanea tarda, which affects about 5 to 10 out of every 100,000 people. The most common type of porphyria in children is a cutaneous porphyria called erythropoietic protoporphyria.

How common is alad porphyria?

ALAD porphyria is an extremely rare disorder with few cases reported in the medical literature. Most cases have occurred in Europe. However, the disorder can potentially occur in any population.

What are variegate porphyria and hereditary coproporphyria?

Variegate porphyria (VP) and hereditary coproporphyria (HCP) were sometimes referred to as mixed porphyria, which is now an obsolete term. VP has also been referred to as South African acute porphyria or protocoproporphyria. In the past, familial porphyria cutanea tarda (PCT) may not have been clearly differentiated from VP in some instances.

What are the signs and symptoms of variegate porphyria?

Common neurological symptoms include abdominal pain, nausea, vomiting, constipation, extremity pain and weakness, anxiety, restlessness and convulsions. Many different PPOX mutations have been identified in different families with Variegate Porphyria.

What is the incidence of variegate porphyria in South Africa?

Most individuals with Variegate Porphyria in South Africa carry the same PPOX mutation and are descendents of a Dutch settler from the late 1600s. The incidence of Variegate Porphyria in South Africa among Caucasians is estimated to be 1 to 3 cases per 1,000 individuals.