How does porphyria cause neuropathy

A chest X-ray scan showed fluid in the lower area of the lungs, but this could not explain her respiratory failure, the scientists noted. Blood tests showed high levels of creatinine and urea nitrogen, indicative of kidney problems. However, these levels normalized after hemodialysis, given to filter waste and water from the blood as the kidneys would do. No autoreactive antibodies indicative of peripheral neuropathy were found in the cerebrospinal fluid, which surrounds the brain and spinal cord.

An electromyography, used to assess the health of muscles and nerves, showed signs of peripheral nerve damage. Her condition to worsen.

Two weeks into her intensive care stay she again experienced abdominal pain, constipation, and general weakness.

An examination of the cranial nerves showed alterations affecting the nose and lips; the patient was no longer able to close her eyelids. Urine color was found to turn reddish upon exposure to sunlight. It is rare for a patient to experience severe peripheral nerve damage. Since heme arginate, a medication that lowers the production of porphyrins, is not available in China, she was treated with blood infusions of glucose to lower porphyrin production in the liver. Her urine color returned to normal within 24 hours, and her abdomial pain lessened.

Although there's no way to prevent porphyria, if you have the disease, avoid triggers to help prevent symptoms.

Because porphyria is usually an inherited disorder, your siblings and other family members may want to consider genetic testing to determine if they have the disease, and get genetic counseling if needed. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Porphyria por-FEAR-e-uh refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body.

Request an Appointment at Mayo Clinic. Autosomal dominant inheritance pattern Open pop-up dialog box Close. Autosomal dominant inheritance pattern In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes. Autosomal recessive inheritance pattern Open pop-up dialog box Close. Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent.

Share on: Facebook Twitter. Show references National Library of Medicine. Genetics Home Reference. Accessed Feb. Learning about porphyria. National Human Genome Research Institute. Overview of porphyrias. Merck Manual Professional Version. Lab Tests Online. The Porphyrias Consortium. Anderson KE. Porphyrias: An overview. Stein PE, et al.

Update review of the acute porphyrias. These attacks can be prevented by a gonadotropin-releasing hormone GnRH analogue or a low-dose estrogen-progestin combination contraceptive. Identifying and Eliminating Precipitants. High-dose oral contraception, some antibiotics eg, erythromycin, trimethoprim, and rifampicin , anticonvulsants eg, barbiturates, carbamazepine, phenytoin, and valproic acid , excess alcohol, smoking, fasting, infection, and stress are common precipitants of AHP attacks.

A useful list of medications that precipitate attacks is available from the American Porphyria Foundation www. Treatment of an acute attack Table 2 includes discontinuing potential triggers, providing symptomatic treatment, and using therapies to downregulate hepatic ALAS1. Milder attacks can be managed at home using narcotics, nonsteroidal anti-inflammatory drugs NSAIDs , and increased glucose intake to avoid visits to the emergency department ED. When visceral or extremity pain becomes severe or when neurologic complications ensue, hospitalization is necessary.

Bulbar involvement and arrhythmia require close monitoring in intensive care units ICUs. This treatment is the safest to use during pregnancy, and early use prevents neuropathy progression. Carbohydrate loading can be considered for milder attacks eg, without paresis, seizure, or hyponatremia or when an IV heme preparation is not available.

Carbohydrate loading is most effective when a dietary restriction has contributed to the attack and can be administered as a high-carbohydrate diet, glucose tablets, or oral dextrose solutions if tolerated. If glucose infusions do not result in clinical remission in 1 to 2 days or if the attack continues to worsen, heme should be administered. Symptomatic Treatments. See Table 3 for symptomatic treatments. Close monitoring of respiratory, speech, and swallowing function is essential.

Elimination of Precipitating Factors. A thorough history to identify potential precipitants medication, alcohol use, smoking, recent weight changes of an acute attack should be considered. Any infections should be treated promptly. Replacement of deficient enzyme, mRNA, and DNA are emerging therapies being studied with promising but as yet unproven results. Protein Replacement. Transcript Replacement. Multiple administrations to nonhuman primates suggest that the hPBGD, selectively targeted to hepatocytes, may prove effective in the treatment of AIP.

Gene Replacement. A phase 1 study in individuals with AIP who had frequent attacks was safe and improved symptoms and quality of life of some participants but failed to reduce porphyrin precursors levels, likely because of insufficient liver transduction at the doses tested. Timely diagnosis, prompt treatment, and elimination of potential precipitants can prevent neurologic complications of AHP.

Understanding genetic abnormalities and pathogenesis of porphyria has opened new avenues in the management of porphyrias. Givosiran, a small interfering mRNA therapy, represents a novel and targeted treatment approach and is the only FDA-approved treatment for the prevention of recurrent disabling attacks. Whether givosiran may also be effective for treating acute attacks requires further study.

Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: a qualitative study. Mol Genet Metab. Bonkowsky H, Schady W. Neurologic manifestations of acute porphyria. Semin Liver Dis. Repression of the overproduction of porphyrin precursors in acute intermittent porphyria by intravenous infusions of hematin.

Mustajoki P, Nordmann Y.