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Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias Medication

  • Author: Norman C Reynolds, Jr, MD; Chief Editor: Stephen A Berman, MD, PhD, MBA  more...
 
Updated: Aug 20, 2014
 

Medication Summary

Two medical therapies are effective in aborting porphyric attacks: IV 10% dextrose in water (D10W) and IV hemin (ie, hematin). Experienced patients with porphyria consume foods high in sugar (eg, candy, ice cream) when they feel an impending attack. If anxious feelings are not episodic but chronic, low dose loxapine is helpful and safe on a regular basis. Injectable hemin (Panhematin) is now approved by the FDA for women with catamenial patterns of exacerbation.

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Intravenous Nutritional Therapy

Class Summary

Glucose is used most commonly. The "glucose effect" reverses or aborts acute porphyric attacks by reducing the rate of porphyrin synthesis using normal endogenous energy metabolism. The "glucose effect" should be reserved for patients with mild pain and no paresis or as a stopgap measure while waiting for hematin.

Dextrose (D-Glucose)

 

Administered IV to hospitalized patients. Observe carefully for what can become a rapidly changing situation using the first of 2 inpatient drugs of choice. If therapeutic control lost, the patient is switched to IV hemin. Prior to admission, oral sugar loading can be tried. Standard solution is D10W.

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Biologicals

Class Summary

Hemin[14, 15] (ie, hematin) infusion is designed specifically for use in reversing severe acute porphyric attacks. It is also indicated for women who experience recurring attacks associated with their menstrual cycles. After acute attacks are aborted, the hemin can be administered again, either weekly or monthly in the more refractory individuals, when pain complaints initiate a recurring attack.

Hemin (Panhematin)

 

Enzyme inhibitor derived from processed RBCs and iron-containing metalloporphyrin. Previously known as hematin, term used to describe chemical reaction product of hemin and sodium carbonate solution. Generally used as second DOC (to follow D10W unless prior use suggests that it is superior in a given patient, a patient is at risk for severe diabetic ketoacidosis, or initial D10W treatment fails to stabilize the acute porphyric episode within 2 d). Patients should be well hydrated to avoid (reversible) renal shutdown. "Glucose effect" should be tried initially if possible.

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Anticonvulsants

Class Summary

These agents control idiopathic seizures in patients with manifest porphyrias or in whom porphyric carrier status is suspected.

Gabapentin (Neurontin)

 

Has properties in common with other anticonvulsants, but most importantly is not metabolized in liver, which makes it safe for use in hepatic porphyrias.

Exact mechanism of action not known. Structurally related to GABA but does not interact with GABA receptors.

Levetiracetam (Keppra)

 

Used as adjunct therapy for partial seizures and myoclonic seizures. Also indicated for primary generalized tonic-clonic seizures. Mechanism of action is unknown.

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Antipsychotics

Class Summary

These agents are useful in treating hepatic porphyrias, which are recurring anxious feelings not necessarily associated with impending porphyric attack.

Loxapine succinate (Loxitane)

 

Safety of medication use in hepatic porphyrias is key to maintaining health and avoiding attacks. Loxapine is well tolerated and useful for recurring anxious feelings common in porphyrias. Should be used for recurrent anxious feelings not associated with impending porphyric crisis. Treatment for the latter is noted under IV dextrose use and is initiated by using high oral sugar intake followed by IV dextrose in a hospital setting for close observation. Treatment for the former can be either low-dose maintenance or as needed.

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Contributor Information and Disclosures
Author

Norman C Reynolds, Jr, MD Neurologist, Veterans Affairs Medical Center of Milwaukee; Clinical Professor, Medical College of Wisconsin

Norman C Reynolds, Jr, MD is a member of the following medical societies: American Academy of Neurology, Association of Military Surgeons of the US, International Parkinson and Movement Disorder Society, Sigma Xi, Society for Neuroscience

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Stephen A Berman, MD, PhD, MBA Professor of Neurology, University of Central Florida College of Medicine

Stephen A Berman, MD, PhD, MBA is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Additional Contributors

Ann M Neumeyer, MD Medical Director, Lurie Center for Autism; Assistant Professor of Neurology, Harvard Medical School; Child Neurologist, Massachusetts General Hospital

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Massachusetts Medical Society

Disclosure: Nothing to disclose.

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Tetrapyrrole molecules are large-ringed structures developed from 4 pyrrole groups and used in energy metabolism in both plants and animals.
Three characteristic substrate molecules of the heme porphyrin pathway.
 
 
 
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