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Variegate porphyria

Variegate porphyria is a type of porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. more...

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Variegate porphyria is a subtype of porphyria.

Symptoms

Many people with this disorder never experience symptoms. When symptoms occur, they can include acute attacks (similar to acute intermittent porphyria), skin damage, or both. Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations. These signs and symptoms are triggered by nongenetic factors such as certain drugs, dieting or fasting, certain hormones and stress.

Some people with variegate porphyria have skin that is overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth. Exposed skin becomes fragile and is easily damaged.

Rarely, the signs and symptoms of variegate porphyria can begin in infancy or early childhood. In such cases, the signs and symptoms are usually more severe than those starting later in life. In addition to the health problems described above, children with this disorder may have mental retardation and grow more slowly than other children.

Epidemiology

This type of porphyria is most common in the white population of South Africa; about 3 per 1,000 people in this population are diagnosed each year. The disorder occurs much less frequently in other parts of the world.

Genetics

Mutations in the PPOX gene cause variegate porphyria. The PPOX gene makes an enzyme called protoporphyrinogen oxidase, which is critical to the chemical process that leads to heme production. The activity of this enzyme is reduced by 50 percent in most people with variegate porphyria. In severe cases that begin early in life, the enzyme is almost completely inactive. Nongenetic factors such as certain drugs, stress, and others listed above can increase the demand for heme and the enzymes required to make heme. The combination of this increased demand and reduced activity of protoporphyrinogen oxidase disrupts heme production and allows byproducts of the process to accumulate in the liver, triggering an acute attack.

Variegate porphyria is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to decrease enzyme activity and cause symptoms. More severe cases result from inheriting two copies of the altered gene.

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Dobson's Complaint: The Story of the Chester Porphyria - Review
From British Medical Journal, 1/30/99 by Helen Crimlisk

Dobson's Complaint: The Story of the Chester Porphyria Ed Giles R Youngs

Royal College of Physicians, 18.50 [pounds sterling], pp 200 ISBN 1 86016 047 6

Rating: ***

There are many aspects of medical disorders that fascinate doctors: the application of the latest scientific techniques, complex biochemical mechanisms, the detective work involved in teasing out a complex history, the personal strengths that emerge when tragedy strikes, and the thrill of finding a new disorder. This book covers all these features and more about one of the rarer variants of porphyria--Chester porphyria, which results from a combination of the deficits found in the commoner acute intermittent porphyria and variegate porphyria. Although concentrating on this variant, the book also provides an overview of the porphyrias in general.

Giles Youngs, a physician in Chester, tells the story of the painstaking work of himself and his past juniors (who have contributed to many aspects of the research in this book). They traced back members of the 300 strong Cheshire kindred affected by this condition to the marriage of a Dee salmon fisherman in 1888. Youngs is brutally honest about how he was initially shamed by one of the family--who clearly knew more than he did about the nature of the curse responsible for wiping out large swathes of her family--into starting his mammoth task, which clearly became a labour of love as time progressed. He pays due debt to the doctors who preceded him, in particular to Dr Zorka Bekerus, who in 1965 was the first to recognise the uniqueness of this variant of porphyria.

The monograph is comprehensive in its coverage of all the aspects of this disorder. Individual chapters stand alone--indeed, several are transcripts of previously published work--and this inevitably leads to a degree of repetition and some contradiction. Nevertheless, the advantage of this arrangement is that the book can easily be browsed and used as a reference for the genetics and biochemistry of this disorder as well as the clinical features. These include neurological and psychiatric disturbances, hyponatraemia, and the hypertension and renal failure that have been responsible for so much of the mortality in the Chester kindred.

Youngs has traced the death certificates and case notes of long dead members of the families, identifying with the benefit of hind-sight the errors made by previous generations of doctors. He avoids, however, any sense of triumphalism and never loses sight of the personal tragedy that obviously still haunts the family.

My only criticism is that no room was found for the family's voice. As with porphyria kindreds elsewhere, morbidity and mortality have been reduced by better diagnostic techniques, avoidance of precipitants (especially barbiturates and other drugs), and treatment of accompanying hypertension. However, family members continue to live with the burden of a rare genetic disorder, one described as the "little imitator" because of the multitude of symptoms, which often led sufferers to be misdiagnosed as "hysterics" With this background, they must have a fascinating perspective, which would have complemented this enthralling book.

Helen Crimlisk, trainee in child psychiatry, University of Marburg, Germany

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