Editing Porphyria (section)

===Acute porphyria===

====Carbohydrate administration====
Often, empirical treatment is required if the diagnostic suspicion of a porphyria is high since acute attacks can be fatal. A high-carbohydrate diet is typically recommended; in severe attacks, a [[dextrose]] 10% infusion is commenced, which may aid in recovery by suppressing [[heme]] synthesis, which in turn reduces the rate of porphyrin accumulation.  However, this can worsen cases of low blood sodium levels ([[hyponatraemia]]) and should be done with extreme caution as it can prove fatal.<ref>{{Cite web|url=http://patient.info/doctor/porphyrias#nav-8|title=Porphyrias - immediate management|author=patient.co.uk|access-date=19 October 2016|url-status=dead|archive-url=https://web.archive.org/web/20161020045301/http://patient.info/doctor/porphyrias#nav-8|archive-date=20 October 2016|df=dmy-all}}</ref>

====Heme analogs====
[[Hematin]] (trade name Panhematin) and [[heme arginate]] (trade name NormoSang) are the drugs of choice in acute porphyria in the United States and the United Kingdom respectively. These drugs need to be given very early in an attack to be effective; effectiveness varies amongst individuals. They are not curative drugs but can shorten attacks and reduce the intensity of an attack. Side effects are rare but can be serious. These heme-like substances theoretically inhibit ALA synthase and hence the accumulation of toxic precursors. In the United Kingdom, supplies of NormoSang are kept at two national centers; emergency supply is available from [[St Thomas's Hospital]], London.<ref>{{Cite book|title=British National Formulary (BNF 57) |date=March 2009 |publisher=[[BMJ Group]] and RPS Publishing |location=United Kingdom |isbn=978-0-85369-845-6 |page=549 |chapter=9.8.2: Acute porphyrias |author=[[British Medical Association]], [[Royal Pharmaceutical Society of Great Britain]]}}</ref> In the United States, [[Lundbeck]] manufactures and supplies Panhematin for infusion.<ref>{{Cite web |url=http://www.porphyriafoundation.com/testing-and-treatment/medications-for-porphyria/panhematin |title=Panhematin for Acute Porphyria |year=2010 |author=American Porphyria Foundation |access-date=5 August 2010 |url-status=dead |archive-url=https://web.archive.org/web/20100825015445/http://www.porphyriafoundation.com/testing-and-treatment/medications-for-porphyria/panhematin |archive-date=25 August 2010 |df=dmy-all }}</ref>

Heme arginate (NormoSang) is used during crises but also in preventive treatment to avoid crises, one treatment every 10 days.{{citation needed|date=December 2014}}

Any sign of low blood sodium ([[hyponatremia]]) or weakness should be treated with the addition of hematin, heme arginate, or even [[tin mesoporphyrin]], as these are signs of impending syndrome of inappropriate antidiuretic hormone (SIADH) or peripheral nervous system involvement that may be localized or severe, progressing to [[bulbar palsy|bulbar paresis]] and respiratory paralysis.{{Citation needed|date=February 2007}}

====Cimetidine====
[[Cimetidine]] has also been reported to be effective for acute porphyric crisis and possibly effective for long-term prophylaxis.<ref name="pmid16263899">{{cite journal |vauthors=Cherem JH, Malagon J, Nellen H | title = Cimetidine and acute intermittent porphyria | journal = Ann. Intern. Med. | volume = 143 | issue = 9 | pages = 694–5 | year = 2005 | pmid = 16263899 | doi = 10.7326/0003-4819-143-9-200511010-00023| doi-access = free }}</ref>

====Symptom control====
Pain is severe, frequently out of proportion to physical signs, and often requires the use of [[opiates]] to reduce it to tolerable levels. Pain should be treated as early as medically possible. [[Nausea]] can be severe; it may respond to [[phenothiazine]] drugs but is sometimes intractable. Hot baths and showers may lessen nausea temporarily, though caution should be used to avoid scalds or falls.{{citation needed|date=July 2020}}

====Early identification====
It is recommended that patients with a history of acute porphyria, and even genetic carriers, wear an [[Medical identification tag|alert bracelet]] or other identification at all times. This is in case they develop severe symptoms, or in case of accidents where there is a potential for drug exposure, and as a result they are unable to explain their condition to healthcare professionals. Some drugs are absolutely [[Contraindication|contraindicated]] for patients with any form of porphyria.<ref>{{Cite web|url=https://www.mayoclinic.org/diseases-conditions/porphyria/diagnosis-treatment/drc-20356072|title=Porphyria - Diagnosis and treatment - Mayo Clinic|website=www.mayoclinic.org|access-date=2018-12-06}}</ref>

====Neurologic and psychiatric disorders====
Patients who experience frequent attacks can develop chronic [[neuropathic]] pain in extremities as well as chronic pain in the [[abdomen]].<ref name="pmid20519771">{{cite journal |vauthors=Birgisdottir BT, Asgeirsson H, Arnardottir S, Jonsson JJ, Vidarsson B | title = [Acute abdominal pain caused by acute intermittent porphyria - case report and review of the literature] | language = is | journal = Laeknabladid | volume = 96 | issue = 6 | pages = 413–18 | year = 2010 | pmid = 20519771 }}</ref> [[Intestinal pseudo-obstruction]], [[ileus]], [[Intussusception (medical disorder)|intussusception]], hypoganglionosis, and [[encopresis]] in children have been associated with porphyrias. This is thought to be due to axonal nerve deterioration in affected areas of the nervous system and vagal nerve dysfunction. Pain treatment with long-acting [[opioid]]s, such as [[morphine]], is often indicated, and, in cases where seizure or neuropathy is present, [[gabapentin]] is known to improve outcome.<ref name="Tsao 2010 112–115">{{cite journal |vauthors=Tsao YC, Niu DM, Chen JT, Lin CY, Lin YY, Liao KK | title = Gabapentin reduces neurovisceral pain of porphyria | journal = Acta Neurol Taiwan | volume = 19 | issue = 2 | pages = 112–5 | year = 2010 | pmid = 20714961 }}</ref>

[[Seizures]] often accompany this disease. Most seizure medications exacerbate this condition. Treatment can be problematic: [[barbiturate]]s especially must be avoided. Some [[benzodiazepine]]s are safe and, when used in conjunction with newer anti-seizure medications such as gabapentin, offer a possible regimen for seizure control. Gabapentin has the additional feature of aiding in the treatment of some kinds of neuropathic pain.<ref name="Tsao 2010 112–115"/> [[Magnesium sulfate]] and bromides have also been used in porphyria seizures; however, development of [[status epilepticus]] in porphyria may not respond to magnesium alone. The addition of [[hematin]] or [[heme arginate]] has been used during [[status epilepticus]].<ref>{{cite journal |vauthors=Cherian A, Thomas SV |title=Status epilepticus |journal=Ann Indian Acad Neurol |volume=12 |issue=3 |pages=140–53 |year=2009 |pmid=20174493 |pmc=2824929 |doi=10.4103/0972-2327.56312 |doi-access=free }}</ref>

[[Clinical depression|Depression]] often accompanies the disease and is best dealt with by treating the offending symptoms and if needed the judicious use of [[antidepressant]]s. Some psychotropic drugs are porphyrinogenic, limiting the therapeutic scope. Other psychiatric symptoms such as anxiety, restlessness, insomnia, depression, mania, hallucinations, delusions, confusion, catatonia, and psychosis may occur.<ref>Murray ED, Buttner N, Price BH. (2012) Depression and Psychosis in Neurological Practice. In: Neurology in Clinical Practice, 6th Edition. Bradley WG, Daroff RB, Fenichel GM, Jankovic J (eds.) Butterworth Heinemann. 12 April 2012. {{ISBN|978-1437704341}}</ref>

====Underlying liver disease====
Some liver diseases may cause porphyria even in the absence of genetic predisposition. These include [[hemochromatosis]] and [[hepatitis C]]. Treatment of iron overload may be required.<ref name=NIDDK>{{Cite web|url=https://www.niddk.nih.gov/health-information/liver-disease/porphyria|title=Porphyria {{!}} NIDDK|website=National Institute of Diabetes and Digestive and Kidney Diseases|access-date=2018-12-06}}</ref>

Patients with the acute porphyrias ([[acute intermittent porphyria|AIP]], [[hereditary coproporphyria|HCP]], [[variegate porphyria|VP]]) are at increased risk over their life for [[hepatocellular carcinoma]] (primary liver cancer) and may require monitoring. Other typical risk factors for liver cancer need not be present.<ref name=NIDDK/>

====Hormone treatment====
Hormonal fluctuations that contribute to cyclical attacks in women have been treated with oral contraceptives and [[luteinizing hormone]]s to shut down menstrual cycles. However, oral contraceptives have also triggered photosensitivity and withdrawal of oral contraceptives has triggered attacks. [[Androgen]]s and fertility hormones have also triggered attacks.<ref>{{cite web |title=Hormonal Contraceptives and Porphyria |url=https://porphyrianews.com/health-insights/hormonal-contraceptives-and-porphyria/ |website=Porphyria news|date=September 2020 }}</ref> In 2019, [[givosiran]] was approved in the United States for the treatment of acute hepatic porphyria.<ref name="FDA PR">{{cite press release | title=FDA approves first treatment for inherited rare disease | website=U.S. [[Food and Drug Administration]] (FDA) | date=20 November 2019 | url=https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-inherited-rare-disease | archive-url=https://web.archive.org/web/20191121062641/https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-inherited-rare-disease | archive-date=21 November 2019 | url-status=live | access-date=20 November 2019}}{{PD-notice}}</ref><ref name="FDA PR 2">{{cite press release | title=FDA approves givosiran for acute hepatic porphyria | website=U.S. [[Food and Drug Administration]] (FDA) | date=20 November 2019 | url=https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-givosiran-acute-hepatic-porphyria | archive-url=https://web.archive.org/web/20191121071000/https://www.fda.gov/drugs/resources-information-approved-drugs/fda-approves-givosiran-acute-hepatic-porphyria | archive-date=21 November 2019 | url-status=live | access-date=20 November 2019}}{{PD-notice}}</ref>