Porphyria treatment

Tenhnnen, R., Mustajoki, R Acute porphyria treatment with heme. Semin. Liver Dis. 1998 18 53—55... 

Protoporphyrinogen III oxidase (EC 1.3.3.4). Ferro-chelatase activity may also be decreased. Impaired feedback inhibition of 5-aminolevulinate synthase results in excessive porphyrin production. Increased urinary porphobilinogen, 5-aminolevulinate, protoporphyrin and coproporphyrin during acute attacks. Fecal protoporphyrin and coproporphyrin constantly elevated. Fecal porphyrin-peptide conjugates increased. Mild photodermatoses clinical picture otherwise similar to that of acute intermittent porphyria. Treatment as for latter. Rare, except in white South Africans, where frequency is 0.4%. Autosomal dominant. 

Biochemistry Underlies the Causes, Diagnoses, Treatments of the Porphyrias... 

It is hoped that treatment of the porphyrias at the gene level will become possible. In the meantime, treatment is essentially symptomatic. It is important for patients to avoid drugs that cause induction of cyto-... 

Acute intermittent porphyria is a dominantly inherited partial deficiency of porphobilinogen deaminase, and causes axonal polyneuropathy. Acute intermittent porphyria is caused by partial deficiency of porphobilinogen deaminase, an enzyme required for heme biosynthesis. Patients may present with acute abdominal pain, rapidly progressive sensorimotor axonal polyneuropathy or psychosis, and have elevated concentrations of the heme precursor 8-amino-levulinic acid in their urine. Symptoms may be precipitated by treatment with barbiturates or other drugs and are suppressed by treatment with hematin [59]. 

Porphyria, acute Intermittent - For the treatment of acute intermittent porphyria. 

Hydroxychloroquine is approved for the treatment of both systemic and cutaneous lupus erythematosus. Both chloroquine and quinacrine (Atabrine) are also effective in this skin disease. Low-dose chloroquine is used for the therapy of porphyria cutanea tarda in patients in whom phlebotomy has failed or is contraindicated. Other skin diseases in which the drugs are useful (after sunscreens and avoidance of sun exposure) include polymorphous light eruption and solar urticaria. 

Hydroxychloroquine (Plaquenil), like chloroquine, is a 4-aminoquinoline derivative used for the suppressive and acute treatment of malaria. It also has been used for rheumatoid arthritis and discoid and systemic lupus erythematosus. Hydroxychloroquine has not been proved to be more effective than chloroquine. Adverse reactions associated with its use are similar to those described for chloroquine. The drug should not be used in patients with psoriasis or porphyria, since it may exacerbate these conditions. 

Atsmon A, Blum I. Treatment of acute porphyria variegata with propranolol. Lancet 1970 24 196-197. 

Treatment During acute porphyria attacks, patients require medical support, particularly treatment for pain and vomiting. The severity of symptoms of the porphyrias can be diminished by intravenous injection of hemin, which decreases the synthe sis of ALA synthase. Avoidance of sunlight and ingestion of j P-carotene (a free-radical scavenger) are also helpful. 

Definition of porphyrias, their modes of genetic inheritance, and their treatment Porphyrias are caused by inherited (or occasionally acquired) defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. Porphyrias are classified as erythropoietic or hepatic, depending where the enzyme deficiency occurs. With the exception of congenital erythropoietic porphyria, which is a genetically recessive disease, all the porphyrias are inherited as autosomal dominant disorders. All porphyrias result in a decreased synthesis of heme and, therefore, ALA synthase is dere-pressed. The severity of symptoms of the porphyrias can be diminished by intravenous injections of hemin. Because some porphyrias result in photosensitivity, avoidance of sunlight is helpful. 

A 36-year-old woman who had undergone a standard course of gonadotrophin treatment for infertility developed severe pelvic pain and hyponatremia. She had a family history of porphyria and it was thought that the treatment had fired an acute attack of the condition. 

Although there have been no previous reports attributing pseudoporphyria to oral contraceptives, in earlier reports of this condition (for example in users of sun-ray beds) a fair proportion of the women were in fact taking estrogens or oral contraceptives. One is also reminded of cases in which true porphyria was precipitated by hormonal treatment. 

After short-term treatment with pravastatin, a 77-year-old woman transiently developed symptoms diagnosed as porphyria cutanea tarda (4). 

A severe acute flare of porphyria cutanea tarda has been reported in a 61-year-old man after 4 months of treatment with interferon alfa-2b plus ribavirin for chronic hepatitis C (553). No further relapse was observed after chloroquine treatment, despite continuation of the antiviral drugs. 

Petersen CS, Thomsen K. High-dose hydroxychloroquine treatment of porphyria cutanea tarda. J Am Acad Dermatol 1992 26(4) 614-9. 

Baler GR. Porphyria precipitated by hydroxychloroquine treatment of systemic lupus erythematosus. Cutis 1976 17(l) 96-8. 

Only phenobarbital strongly induces the synthesis of the hepatic cytochrome P-450 drug metabolizing system. Phenobarbital is contraindicated in the treatment of acute intermittent porphyria. Buspirone lacks the anticonvulsant and muscle-relaxant properties of the benzodiazepines and causes only minimal sedation, v ... 

Miscellaneous Vasculitis/inflammatory Sarcoidosis/porphyria Dementia pugilistica (recurrent head trauma) Parkinson s disease/Huntington s disease Pseudodementia of depression Diagnosis and treatment varies... 

Use of a drug about which there is uncertainty may be justified. Dr M. Badminton writes Essential treatment should never be withheld, especially for a condition that is serious or hfe-threatening. The clinician should assess the severity of the condition and the activity of the porphyria. If no recognised safe option is available, a reasonable course is to ... 

In porphyria cutanea tarda, iron deposition in the liver is generally low to moderate, predominantly in the hepa-tocytes of the acinar periphery. The cause is thought to be reduced activity of uroporphyrinogen decarboxylase resulting in decreased synthesis of porphyrin and haem. However, this variant of hepatic siderosis only becomes manifest as a result of various triggering factors. Treatment is also based on venesection. 

H. Clinical usefulness of cimetidine treatment for acute relapse in intermittend porphyria. Clin. Chim. Acta 1995 234 171-175... 

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