Editing Porphyria (section)

==Diagnosis==

===Porphyrin studies===
Porphyria is diagnosed through biochemical analysis of [[blood]], [[urine]], and [[feces|stool]].<ref name=Thadani>{{cite journal |vauthors=Thadani H, Deacon A, Peters T | title = Diagnosis and management of porphyria | journal = BMJ | volume = 320 | issue = 7250 | pages = 1647–1651 | year = 2000 | pmid = 10856069 | pmc = 1127427 | doi = 10.1136/bmj.320.7250.1647 }}</ref><ref>{{cite web|title=Tests for Porphyria diagnosis|url=http://www.porphyriafoundation.com/testing-and-treatment/testing-for-porphyria/tests-for-porphyria-diagnosis|publisher=American Porphyria Foundation|access-date=17 May 2014|url-status=dead|archive-url=https://web.archive.org/web/20140320095019/http://www.porphyriafoundation.com/testing-and-treatment/testing-for-porphyria/tests-for-porphyria-diagnosis|archive-date=20 March 2014|df=dmy-all}}</ref> In general, urine estimation of [[porphobilinogen]] (PBG) is the first step if acute porphyria is suspected. As a result of feedback, the decreased production of heme leads to increased production of precursors, PBG being one of the first substances in the porphyrin synthesis pathway.<ref name=Anderson>{{cite journal |vauthors=Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ | title = Recommendations for the diagnosis and treatment of the acute porphyrias | journal = Ann. Intern. Med. | volume = 142 | issue = 6 | pages = 439–50 | year = 2005 | pmid = 15767622 | doi = 10.7326/0003-4819-142-6-200503150-00010 | s2cid = 36122555 }}</ref> In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare [[ALA dehydratase deficiency]] or in patients with symptoms due to [[tyrosinemia|hereditary tyrosinemia type I]].<ref>{{cite journal |vauthors=Berkó G, Durkó I | title = [Modification of the Mauzerall-Granick method for the determination of urinary aminolevulinic acid]. | language = hu | journal = Orvosi Hetilap | volume = 112 | issue = 51 | pages = 3085–6 | date = 19 December 1971 | pmid = 5136653 }}</ref> In cases of
[[mercury poisoning|mercury]]- or [[arsenic poisoning]]-induced porphyria, other changes in porphyrin profiles appear, most notably elevations of uroporphyrins I & III, coproporphyrins I & III, and pre-coproporphyrin.<ref name=Woods1995>{{Cite book| last = Woods| first = J.S.| contribution = Porphyrin metabolism as indicator of metal exposure and toxicity| editor-last = Goyer| editor-first = R.A. |editor2=Cherian, M.G.| title = Toxicology of metals, biochemical aspects| volume = 115| pages = 19–52, Chapter 2| publisher = Springer| place = Berlin| year = 1995 }}</ref>

As most porphyrias are [[rare disease|rare conditions]], general hospital labs typically do not have the expertise, technology, or staff time to perform porphyria testing. In general, testing involves sending samples of blood, stool, and urine to a reference laboratory.<ref name=Thadani/> All samples to detect porphyrins must be handled properly. Samples should be taken during an acute attack; otherwise a [[false negative]] result may occur. Samples must be protected from light and either refrigerated or preserved.<ref name=Thadani/>

If all the porphyrin studies are negative, one must consider [[pseudoporphyria]]. A careful medication review often will find the cause of pseudoporphyria.{{citation needed|date=March 2022}}

===Additional tests===
Further diagnostic tests of affected organs may be required, such as [[nerve conduction studies]] for [[neuropathy]] or an [[medical ultrasonography|ultrasound]] of the liver. Basic biochemical tests may assist in identifying [[liver disease]], [[hepatocellular carcinoma]], and other organ problems.<ref>{{Cite journal|last1=Di Pierro|first1=Elena|last2=De Canio|first2=Michele|last3=Mercadante|first3=Rosa|last4=Savino|first4=Maria|last5=Granata|first5=Francesca|last6=Tavazzi|first6=Dario|last7=Nicolli|first7=Anna Maria|last8=Trevisan|first8=Andrea|last9=Marchini|first9=Stefano|last10=Fustinoni|first10=Silvia|date=2021-07-26|title=Laboratory Diagnosis of Porphyria|journal=Diagnostics|volume=11|issue=8|pages=1343|doi=10.3390/diagnostics11081343|issn=2075-4418|pmc=8391404|pmid=34441276|doi-access=free}}</ref>

•Other Diagnosis{{cn|date=December 2024}}

Clinical Evaluation: A thorough medical history and physical examination focusing on symptoms related to photosensitivity, skin lesions, abdominal pain, and neurological manifestations.

Genetic Testing: Molecular genetic testing to identify specific gene mutations associated with congenital porphyrias.

Other Tests: Liver function tests, iron studies, and imaging studies such as ultrasound or MRI may be conducted to evaluate liver and spleen involvement.