Research & Literature

Afamelanotide for Erythropoietic Protoporphyria.

Langendonk JG, Balwani M, Anderson KE, et al.

The New England journal of medicine 2015; (373(1)):48-59 doi:10.1056/NEJMoa1411481.

Porphyrias: A 2015 update.

Karim Z, Lyoumi S, Nicolas G, et al.

Clinics and research in hepatology and gastroenterology 2015; (39(4)):412-25.

Acute Porphyrias.

Besur S, Schmeltzer P, Bonkovsky HL

The Journal of emergency medicine 2015; (49(3)):305-12.

Acute Hepatic Porphyria.

Bissell DM, Wang B

Journal of clinical and translational hepatology 2015; (3(1)):17-26 doi:10.14218/JCTH.2014.00039.

Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.

Aguilera P, Badenas C, Whatley SD, To-Figueras J

The British journal of dermatology 2016; (175(6)):1346-1350 doi:10.1111/bjd.14675.

Acute variegate porphyria presenting with reversible cerebral vasoconstriction.

Webb AJ, Ingale H, Irani SR, Hu MT

Clinical neurology and neurosurgery 2016; (146()):102-4.

Chronic Treatment with Isoniazid Causes Protoporphyrin IX Accumulation in Mouse Liver.

Sachar M, Li F, Liu K, et al.

Chemical research in toxicology 2016; (29(8)):1293-7 doi:10.1021/acs.chemrestox.6b00121.

Clinical applications of therapeutic phlebotomy.

Kim KH, Oh KY

Journal of blood medicine 2016; (7()):139-44 doi:10.2147/JBM.S108479.

Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients?

Hatch MM, Nawas Z, Kollipara R, Tyring SK

Journal of the European Academy of Dermatology and Venereology : JEADV 2017; (31(4)):e194 doi:10.1111/jdv.13936.

Best practice guidelines on first-line laboratory testing for porphyria.

Woolf J, Marsden JT, Degg T, et al.

Annals of clinical biochemistry 2017; (54(2)):188-198 doi:10.1177/0004563216667965.

Hepatic porphyria: A narrative review.

Arora S, Young S, Kodali S, Singal AK

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2016; (35(6)):405-418 doi:10.1007/s12664-016-0698-0.

Advances in the management of erythropoietic protoporphyria - role of afamelanotide.

Lane AM, McKay JT, Bonkovsky HL

The application of clinical genetics 2016; (9()):179-189 doi:10.2147/TACG.S122030.

Dermatologic Manifestations of Chronic Hepatitis C Infection.

Sayiner M, Golabi P, Farhat F, Younossi ZM

Clinics in liver disease 2017; (21(3)):555-564 doi:10.1016/j.cld.2017.03.010.

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

Baravelli CM, Sandberg S, Aarsand AK, et al.

Journal of internal medicine 2017; (282(3)):229-240 doi:10.1111/joim.12646.

Effect of Menstrual Cycle on Acute Intermittent Porphyria.

Júnior VRS, Lemos VMV, Feitosa IML, et al.

Child neurology open 2017; (4()):2329048X17736170 doi:10.1177/2329048X17736170.

An overview of the cutaneous porphyrias.

Dawe R

F1000Research 2017; (6()):1906 doi:10.12688/f1000research.10101.1.

Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria.

Teramura T, Mizuno M, Asano H, et al.

The Journal of dermatology 2018; (45(2)):145-149 doi:10.1111/1346-8138.14175.

Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure.

Attarian S, Yu C, Anderson KE, Friedman EW

Blood advances 2017; (1(14)):915-917 doi:10.1182/bloodadvances.2017005660.

Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver.

Schmitt C, Lenglet H, Yu A, et al.

Journal of internal medicine 2018; (284(1)):78-91 doi:10.1111/joim.12750.

Porphyria: What Is It and Who Should Be Evaluated?

Edel Y, Mamet R

Rambam Maimonides medical journal 2018; (9(2)) doi:10.5041/RMMJ.10333.

Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis.

Salameh H, Sarairah H, Rizwan M, et al.

The British journal of dermatology 2018; (179(6)):1351-1357 doi:10.1111/bjd.16741.

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Peoc'h K, Manceau H, Karim Z, et al.

Molecular genetics and metabolism 2019; (128(3)):236-241 doi:10.1016/j.ymgme.2018.10.001.

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Weiss Y, Chen B, Yasuda M, et al.

Molecular genetics and metabolism 2019; (128(3)):363-366 doi:10.1016/j.ymgme.2018.11.013.

Porphyria cutanea tarda: Recent update.

Singal AK

Molecular genetics and metabolism 2019; (128(3)):271-281 doi:10.1016/j.ymgme.2019.01.004.

Congenital erythropoietic porphyria: Recent advances.

Erwin AL, Desnick RJ

Molecular genetics and metabolism 2019; (128(3)):288-297 doi:10.1016/j.ymgme.2018.12.008.

Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Balwani M

Molecular genetics and metabolism 2019; (128(3)):298-303 doi:10.1016/j.ymgme.2019.01.020.

Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria.

Sardh E, Harper P, Balwani M, et al.

The New England journal of medicine 2019; (380(6)):549-558 doi:10.1056/NEJMoa1807838.

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Chen B, Whatley S, Badminton M, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(11)):2605-2613 doi:10.1038/s41436-019-0537-7.

Clinical Guide and Update on Porphyrias.

Stölzel U, Doss MO, Schuppan D

Gastroenterology 2019; (157(2)):365-381.e4 doi:10.1053/j.gastro.2019.04.050.

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

Edel Y, Mamet R, Snast I, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2020; (34(1)):184-187 doi:10.1111/jdv.15769.

Neurological and neuropsychiatric manifestations of porphyria.

Suh Y, Gandhi J, Seyam O, et al.

The International journal of neuroscience 2019; (129(12)):1226-1233 doi:10.1080/00207454.2019.1655014.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya L, Ventura P, Balwani M, et al.

Hepatology (Baltimore, Md.) 2020; (71(5)):1546-1558 doi:10.1002/hep.30936.

New Case Detection by Cascade Testing in Familial Hypercholesterolemia: A Systematic Review of the Literature.

Lee C, Rivera-Valerio M, Bangash H, et al.

Circulation. Genomic and precision medicine 2019; (12(11)):e002723 doi:10.1161/CIRCGEN.119.002723.

A Case of Acute Intermittent Porphyria Mimicking Guillain-Barré Syndrome.

Mutluay B, Köksal A, Çelık RGG, Bülbül HH

Noro psikiyatri arsivi 2019; (56(4)):311-312 doi:10.5152/npa.2017.19474.

Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid, Givosiran, in Patients With Acute Hepatic Porphyria.

Agarwal S, Simon AR, Goel V, et al.

Clinical pharmacology and therapeutics 2020; (108(1)):63-72 doi:10.1002/cpt.1802.

Protocol For Patients With Suspected Acute Porphyria.

Castelbón Fernández FJ, Solares Fernandez I, Arranz Canales E, et al.

Revista clinica espanola 2020; (220(9)):592-596 doi:10.1016/j.rce.2019.10.012.

Porphyria cutanea tarda associated with nitrofurantoin: A unique drug reaction.

Franciosi EB, Amano SU, Scharf MJ

Dermatologic therapy 2020; (33(6)):e14026 doi:10.1111/dth.14026.

Erythropoietic protoporphyria in pregnancy.

Nevins EG, Wijesiriwardana A

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2021; (41(4)):657-658 doi:10.1080/01443615.2020.1777954.

Incidence and Prevalence of Erythropoietic Protoporphyria in Colombia Between 2014 and 2018.

Jaramillo-Calle DA

Actas dermo-sifiliograficas 2021; (112(2)):186-188 doi:10.1016/j.ad.2019.04.019.

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H, Bertoli-Avella AM, Skrahina V, et al.

NPJ genomic medicine 2020; (5()):44 doi:10.1038/s41525-020-00150-z.

Acute intermittent porphyria (AIP) in a patient with celiac disease.

Nunnemann S, Uibel C, Budig P, Mäurer M

Neurological research and practice 2020; (2()):2 doi:10.1186/s42466-020-0049-6.

Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report.

Vassiliou D, Lempessi C, Harper P, Sardh E

Clinical case reports 2020; (8(12)):2483-2487 doi:10.1002/ccr3.3185.

Acute hepatic porphyrias for the neurologist: current concepts and perspectives.

Souza PVS, Badia BML, Farias IB, et al.

Arquivos de neuro-psiquiatria 2021; (79(1)):68-80 doi:10.1590/0004-282X20200096.

The acute hepatic porphyrias.

Wang B

Translational gastroenterology and hepatology 2021; (6()):24 doi:10.21037/tgh-2020-01.

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran.

To-Figueras J, Wijngaard R, García-Villoria J, et al.

Journal of inherited metabolic disease 2021; (44(4)):961-971 doi:10.1002/jimd.12391.

Patient and caregiver experiences of living with acute hepatic porphyria in the UK: a mixed-methods study.

Gill L, Burrell S, Chamberlayne J, et al.

Orphanet journal of rare diseases 2021; (16(1)):187 doi:10.1186/s13023-021-01816-2.

Porphyria: awareness is the key to diagnosis!

Heymans B, Meersseman W

Acta clinica Belgica 2022; (77(3)):703-709 doi:10.1080/17843286.2021.1918876.

Acute intermittent porphyria, givosiran, and homocysteine.

Fontanellas A, Ávila MA, Arranz E, et al.

Journal of inherited metabolic disease 2021; (44(4)):790-791 doi:10.1002/jimd.12411.

Homocysteine elevation in givosiran treatment: Suggested ALAS1 siRNA effect on cystathionine beta-synthase.

Vassiliou D, Sardh E

Journal of internal medicine 2021; (290(4)):928-930 doi:10.1111/joim.13341.

[Porphyria].

Stölzel U, Stauch T, Kubisch I

Der Internist 2021; (62(9)):937-951 doi:10.1007/s00108-021-01066-1.

Unexpected presentation of acute porphyria.

Kiew CK, Lam ASEL

BMJ case reports 2021; (14(6)) doi:10.1136/bcr-2021-241580.

Neurology of the acute hepatic porphyrias.

Oliveira Santos M, Leal Rato M

Journal of the neurological sciences 2021; (428()):117605 doi:10.1016/j.jns.2021.117605.

Ultraviolet A phototest positivity is associated with higher free erythrocyte protoporphyrin IX concentration and lower transferrin saturation values in erythropoietic protoporphyria.

Genovese G, Maronese CA, Moltrasio C, et al.

Photodermatology, photoimmunology & photomedicine 2022; (38(2)):141-149 doi:10.1111/phpp.12727.

Porphyrias in the Age of Targeted Therapies.

Erwin AL, Balwani M

Diagnostics (Basel, Switzerland) 2021; (11(10)) doi:10.3390/diagnostics11101795.

RNAi therapy with givosiran significantly reduces attack rates in acute intermittent porphyria.

Sardh E, Harper P

Journal of internal medicine 2022; (291(5)):593-610 doi:10.1111/joim.13443.

Givosiran for the treatment of acute hepatic porphyria.

Ricci A, Ventura P

Expert review of clinical pharmacology 2022; (15(4)):383-393 doi:10.1080/17512433.2022.2075848.

Neurological Manifestations of Acute Porphyrias.

Wylie K, Testai FD

Current neurology and neuroscience reports 2022; (22(7)):355-362 doi:10.1007/s11910-022-01205-7.

Risk of Hepatocellular Carcinoma in Patients with Porphyria: A Systematic Review.

Ramai D, Deliwala SS, Chandan S, et al.

Cancers 2022; (14(12)) doi:10.3390/cancers14122947.

Therapy Follows Diagnosis: Old and New Approaches for the Treatment of Acute Porphyrias, What We Know and What We Should Know.

Petrides PE

Diagnostics (Basel, Switzerland) 2022; (12(7)) doi:10.3390/diagnostics12071618.

Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.

Wheeden K, Lyon Howe D, Burrell S, et al.

Advances in therapy 2022; (39(9)):4330-4345 doi:10.1007/s12325-022-02172-8.

Disease burden in patients with acute hepatic porphyria: experience from the phase 3 ENVISION study.

Wang B, Ventura P, Takase KI, et al.

Orphanet journal of rare diseases 2022; (17(1)):327 doi:10.1186/s13023-022-02463-x.

Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals.

Lissing M, Vassiliou D, Floderus Y, et al.

Journal of inherited metabolic disease 2023; (46(2)):286-299 doi:10.1002/jimd.12583.

AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.

Wang B, Bonkovsky HL, Lim JK, Balwani M

Gastroenterology 2023; (164(3)):484-491 doi:10.1053/j.gastro.2022.11.034.

Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C.

Bonkovsky HL, Rudnick SP, Ma CD, et al.

Digestive diseases and sciences 2023; (68(6)):2738-2746 doi:10.1007/s10620-023-07859-8.

Pharmacokinetic-pharmacodynamic model of urinary δ-aminolevulinic acid reduction after givosiran treatment in patients with acute hepatic porphyria.

Lee J, Melch M, Robbie GJ

CPT: pharmacometrics & systems pharmacology 2023; (12(6)):842-852 doi:10.1002/psp4.12957.

Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.

Kuter DJ, Bonkovsky HL, Monroy S, et al.

Journal of hepatology 2023; (79(5)):1150-1158 doi:10.1016/j.jhep.2023.06.013.

A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda.

Varada N, Tun KM, Chang MJ, et al.

Cureus 2023; (15(7)):e41299 doi:10.7759/cureus.41299.

Update on the Porphyrias.

Dickey AK, Leaf RK, Balwani M

Annual review of medicine 2024; (75()):321-335 doi:10.1146/annurev-med-042921-123602.

Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.

Moghe A, Dickey A, Erwin A, et al.

Molecular genetics and metabolism 2023; (140(3)):107670 doi:10.1016/j.ymgme.2023.107670.

Implanted Progestin Causing Pain and Psychiatric Disturbances in Porphyria Attack: A Case Report.

Misek RK, Riitano MF

Clinical practice and cases in emergency medicine 2023; (7(3)):144-147 doi:10.5811/cpcem.1490.

The Hepatic Porphyrias: Revealing the Complexities of a Rare Disease.

Balogun O, Nejak-Bowen K

Seminars in liver disease 2023; (43(4)):446-459 doi:10.1055/s-0043-1776760.

The diagnosis of acute intermittent porphyria combined with seizures: Case report.

Wang Z, Cheng L, Liang X, et al.

Medicine 2023; (102(50)):e36167 doi:10.1097/MD.0000000000036167.

Obstacles to Early Diagnosis of Acute Hepatic Porphyria: Current Perspectives on Improving Early Diagnosis and Clinical Management.

Thapar M, Singh A, Robinson KM, Bonkovsky HL

Clinical and experimental gastroenterology 2024; (17()):1-8 doi:10.2147/CEG.S348507.

Liver transplantation and primary liver cancer in porphyria.

Lissing M, Wang B, Wahlin S

Liver international : official journal of the International Association for the Study of the Liver 2025; (45(3)):e15894 doi:10.1111/liv.15894.

Neurofilament light chain as a biomarker for acute hepatic porphyrias.

Sgobbi P, Serrano PL, Badia BML, et al.

Frontiers in neurology 2024; (15()):1384678 doi:10.3389/fneur.2024.1384678.

Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.

Balogun O, Nejak-Bowen K

Seminars in liver disease 2024; (44(2)):209-225 doi:10.1055/s-0044-1787076.

Long-term complications in acute porphyria.

Pischik E, Lissing M, Pallet N, Kauppinen R

Liver international : official journal of the International Association for the Study of the Liver 2024; (44(9)):2197-2207 doi:10.1111/liv.15966.

Practical recommendations for biochemical and genetic diagnosis of the porphyrias.

Aarsand AK, To-Figueras J, Whatley S, et al.

Liver international : official journal of the International Association for the Study of the Liver 2025; (45(3)):e16012 doi:10.1111/liv.16012.

Therapeutic approach to acute crises of hepatic porphyrias.

Garrido Montes M, Pertusa Mataix R, Garcia Morillo JS

Revista clinica espanola 2024; (224(10)):664-669 doi:10.1016/j.rceng.2024.09.004.

Porphyria cutanea tarda triggered by hepatitis-E virus.

Hrabak P, Benesova K, Zahorakova D, Bruha R

Bratislavske lekarske listy 2024; (125(10)):587-588 doi:10.4149/BLL_2024_91.

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study.

Sardh E, Balwani M, Rees DC, et al.

Orphanet journal of rare diseases 2024; (19(1)):365 doi:10.1186/s13023-024-03284-w.

Hepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.

Singal AK, Reddy RK, Gudiwada MC, et al.

Digestive diseases and sciences 2024; (69(11)):4268-4274 doi:10.1007/s10620-024-08661-w.

Givosiran: a targeted treatment for acute intermittent porphyria.

Dickey AK, Leaf RK

Hematology. American Society of Hematology. Education Program 2024; (2024(1)):426-433 doi:10.1182/hematology.2024000663.

Porphyria cutanea tarda: a unique iron-related disorder.

Leaf RK, Dickey AK

Hematology. American Society of Hematology. Education Program 2024; (2024(1)):450-456 doi:10.1182/hematology.2024000664.

Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.

Naik H, Brown M, Meninger S, Lombardelli S

Molecular genetics and metabolism reports 2025; (42()):101174 doi:10.1016/j.ymgmr.2024.101174.

Porphyric encephalopathy in a 15-year-old girl: A case report.

Dukkipati SS, Terschluse J, Thodeson D, et al.

SAGE open medical case reports 2025; (13()):2050313X241298532 doi:10.1177/2050313X241298532.

Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Hall PL, Lam C, Wolfe L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2025; (27(4)):101328 doi:10.1016/j.gim.2024.101328.

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.

Dong W, Zeng B, Wang X, et al.

Frontiers in genetics 2025; (16()):1551832 doi:10.3389/fgene.2025.1551832.

Comparative effectiveness of human hematin and heme arginate in the management of porphyria attacks: an observational study across three hospitals in Colombia.

Rave-B EE, Rojas-Henao NA, Valencia-Quintero AF, Nieto-López ES

Hospital practice (1995) 2025; (53(1)):2520743 doi:10.1080/21548331.2025.2520743.

Guide for the classification of porphyrias using state-of-the-art reverse-phase high-performance liquid chromatography.

Laguna J, Wijngaard R, Marés L, et al.

Scandinavian journal of clinical and laboratory investigation 2025; (85(5)):327-339 doi:10.1080/00365513.2025.2524714.

Hyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.

Roldão M, Soares Dionísio A, Duarte J, et al.

Cureus 2026; (18(1)):e101733 doi:10.7759/cureus.101733.

A Delayed Progression of Porphyria-Associated Kidney Disease After Hemin Therapy in a Patient with Acute Intermittent Porphyria: A Case Report.

Ishimura T, Wells KJ, Shimada A, et al.

Internal medicine (Tokyo, Japan) 2026; doi:10.2169/internalmedicine.7131-26.

Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.

Vu TN, Talasila S, Jeha GM, et al.

American journal of clinical dermatology 2026; (27(4)):745-764 doi:10.1007/s40257-026-01046-x.

A Rare Clinical Presentation of Variegate Porphyria.

Viakhireva I, Murtazina A, Orlova A, et al.

Molecular genetics & genomic medicine 2026; (14(6)):e70243 doi:10.1002/mgg3.70243.