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10 Cards in this Set
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PCT
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I refer most of my patients to a hepatologist for work up ... Urine fluorescence in the office is a fun test, but certainly not an adequate screen given high number of false negatives ... Plasma porphyrin screens are useful in following patients therapeutically but I have had difficulty recently with plasma porphyrin analysis from the major labs around the country, so I am sticking to urine for follow up ... Some studies have shown extremely high levels of hepatitis C in patients with porphyria cutanea tarda (PCT) ... I get a hepatitis panel ... I recommend titanium dioxide or mexoryl containing sunscreens ... Women usually have electrolysis or use depilatories for the hypertrichosis ...
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PCT
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First line therapy is phlebotomy as an outpatient if there are no contrainclications ... Clinical response lags behind biochemical response ... I've taken care of at least 30 patients, and I've never seen a failure with phlebotomy ... There is no evidence suggesting that by simply having PCT leads to I iver damage ... I would want my residents to know how to differentiate VP from PCT ... They can have identical cutaneous findings ... Once you have a positive porphyrin screen, you must rule out a seizure history, and check the ratio of URO to COPRO in the urine ... In PCT, 8:1; in VP, 1:1 or COPRO > URO.
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Variegate Porphyria
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Still most common in the Dutch Afrikaners of South Africa ... 50% with combination skin and neurologic, 15% just neurologic, 35% just skin ... Don't bleed patients you might rev up the cycle and lead to an attack ... The trick is sun avoidance with titanium dioxide and mexoryl sunscreen ... Need to work with neurologist who is aware of porphyria ... Prior to surgery, the neurologist should talk with the anesthesiologist ...
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Variegate Porphyria
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Long periods of NPO (nothing by mouth) may be dangerous ... Treat infection quickly ... Hand patient "avoid these medications" list ... Should they become pregnant? tough question ... Needs to be discussed with primary physician and obstetrician.
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Acute Intermittent Porphyria
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I can see these patients being labeled as having "chronic fatigue syndrome" A lot of people end up having multiple exploratory laporatornies ... They've seen multiple physicians including gastrointestinal, neurologic, and psychiatric ... Many are thought to be crazy ... Always give list of medicatoins to avoid ... Pregnancy, surgical issues must be discussed with patients and their physicians ... They can die from their attacks ... But I don't think it's a high mortality rate at all ... Like other seizure patients, they shouldn't swim alone.
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Hereditary Coproporphyria
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Neurologic symptoms are more common than cutaneous ... Clinical is the same for HCP and VP ... Differentiation is based on porphyrin profiles ... Again, hernatin and glucose loading for attacks ... B carotene may help the skin problems ... AIP can be differentiated with the PBGD enzyme assay.
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Erythropoietic Protoporphyria
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kids can't verbalize that it's the sun that bothers them ... They tell mom, "I don't want to go out" . . . The pain lasts for about 24 hours after outdoor exposure ... They learn to put ice on skin to relieve burning and stinging ... Their skin looks like the waxy lesions of lipoid proteinosis ... They've cloned the gene for ferrochelatase ... Like other porphyrias, there is a variable clinical presentation because a number of gene loci defects can cause the same enzyme deficiency ...
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Erythropoietic Protoporphyria
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They can get gallstones at an early age ... A very smal I percentage go on to fatal hepatic disease ... Some pa¬tients have been transplanted ... Get yearly plasma porphyrin screens and LFTs ... Porphyrin levels will shoot up with liver failure ... I don't know if there's anything to stop the I iver disease once it starts ... B Carotene works for skin disease in 75% of cases ... Orange palms don't bother patients ... Critical to take synthetic and not natural carotene ... Contaminants in the natural form may have caused hypervitaminosis A ... Titanium dioxide and mexoryl sunscreens may help.
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Congenital Erythropoietic Porphyria
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Mom comes into the office with pink diapers ... Babies cry and scream when outside ... Can see red teeth in babies ... Once again, variable severity depending on specific gene defect ... It's a horrible disease ... Treatment is avoidance, avoidance, avoidance of sun exposure ... If they're well taken care of, normal life span ... If severe, it may be a very difficult, mostly indoor life ... Hats, titanium dioxide sunscreen, play tennis at night ... May be set up for bone marrow transplant if severe enough ... Nowadays, they are picked up early on . . . Those pictures of severe mutilation and scarring should be things of the past.
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Hepatorerythropoietic Porphyria
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Patients resemble people with a mild Gunther's ... Differentiate from Gonther's by looking at red cell porphyrins ... For some ungodly reason, patients with HEP have proto in their red cells while patients with EP have uro ... Less photosensitive than EP but more than EPP ... The major treatment is avoidance, avoidance, avoidance of the sun ... Titanium dioxide and mexoryl sunscreen.
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