Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
ISSN: 1468-3083
Titre abrégé: J Eur Acad Dermatol Venereol
Pays: England
ID NLM: 9216037
Informations de publication
Date de publication:
Jan 2020
Jan 2020
Historique:
received:
13
02
2019
accepted:
13
06
2019
pubmed:
3
7
2019
medline:
15
12
2020
entrez:
3
7
2019
Statut:
ppublish
Résumé
From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs. To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types. This retrospective study includes all patients who were diagnosed with CPs between the years 1988-2018. It is based on data from Israel's National Service for the Biochemical Diagnoses of Porphyrias, and Israeli patients' nationwide electronic medical charts. Incidence and prevalence rates were calculated. Of 173 patients with CPs diagnosed during a 30-year period, 65 (38%) had VP, 62 (36%) had PCT, 31 (18%) had HCP and 15 (9%) had EPP; with incidence rates of 0.29, 0.30, 0.17, 0.07, and prevalence rates of 6.3, 4.8, 2.9, 1.6, respectively, per million population. Characteristics of patients with PCT differed from those with other CPs with regard to lack of family history, older mean age at diagnosis [51 vs. 36 (VP), 35 (HCP) and 25 (EPP) years] and male predominance (81% vs. similar distribution). All patients with PCT were diagnosed at adulthood, while 20%, 19% and 15% of patients with VP, HCP and EPP, respectively, were diagnosed during childhood or adolescence. Variegate porphyria and PCT were found to be the most prevalent in Israel; however, CPs might be underdiagnosed, thus dermatologists' awareness of these rare disorders is highly important.
Sections du résumé
BACKGROUND
BACKGROUND
From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs.
OBJECTIVES
OBJECTIVE
To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types.
METHODS
METHODS
This retrospective study includes all patients who were diagnosed with CPs between the years 1988-2018. It is based on data from Israel's National Service for the Biochemical Diagnoses of Porphyrias, and Israeli patients' nationwide electronic medical charts. Incidence and prevalence rates were calculated.
RESULTS
RESULTS
Of 173 patients with CPs diagnosed during a 30-year period, 65 (38%) had VP, 62 (36%) had PCT, 31 (18%) had HCP and 15 (9%) had EPP; with incidence rates of 0.29, 0.30, 0.17, 0.07, and prevalence rates of 6.3, 4.8, 2.9, 1.6, respectively, per million population. Characteristics of patients with PCT differed from those with other CPs with regard to lack of family history, older mean age at diagnosis [51 vs. 36 (VP), 35 (HCP) and 25 (EPP) years] and male predominance (81% vs. similar distribution). All patients with PCT were diagnosed at adulthood, while 20%, 19% and 15% of patients with VP, HCP and EPP, respectively, were diagnosed during childhood or adolescence.
CONCLUSIONS
CONCLUSIONS
Variegate porphyria and PCT were found to be the most prevalent in Israel; however, CPs might be underdiagnosed, thus dermatologists' awareness of these rare disorders is highly important.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
184-187Informations de copyright
© 2019 European Academy of Dermatology and Venereology.
Références
Besur S, Schmeltzer P, Bonkovsky HL. Acute porphyrias. J Emerg Med 2015; 49: 305-312.
Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017; 377: 2101.
Edel Y, Mamet R. Porphyria: what is it and who should be evaluated? Rambam Maimonides Med J 2018; 9. https://doi.org/10.5041/rmmj.10333 e0013.
Christiansen AL, Aagaard L, Krag A et al. Cutaneous porphyrias: causes, symptoms, treatments and the Danish incidence 1989-2013. Acta Derm Venereol 2016; 96: 868-872.
Deacon AC, Elder GH. ACP Best Practice No 165: front line tests for the investigation of suspected porphyria. J Clin Pathol 2001; 54: 500-507.
Puy H, Gouya L, Deybach J-C. Porphyrias. Lancet 2010; 375: 924-937.
Hift RJ, Peters TJ, Meissner PN. A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the ‘Royal Malady’. J Clin Pathol 2012; 65: 200-205.
Elder G, Harper P, Badminton M et al. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis 2013; 36: 849-857.
Muñoz M, Ausín B, Santos-Olmo AB et al. Alcohol use, abuse and dependence in an older European population: results from the MentDis_ICF65 + study. PLoS ONE 2018; 13: e0196574.
Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int 2012; 32: 880-893.
Olsson KS, Wålinder O, Kindmark A, Williams R. Common local founder effects for Wilson's disease and hereditary hemochromatosis; mutation studies of a large family. Scand J Gastroenterol 2012; 47: 1014-1020.
Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol 1997; 36: 594-610.
Wolach B, Gavrieli R, Wolach O et al. Leucocyte adhesion deficiency-A multicentre national experience. Eur J Clin Invest 2019; 49: e13047.
Zvidi I, Fraser GM, Niv Y, Birkenfeld S. The prevalence of inflammatory bowel disease in an Israeli Arab population. J Crohns Colitis 2013; 7: e159-e163.
Grob U, Puy H, Jacob K et al. Biochemical compared to molecular diagnosis in acute intermittent porphyria. J Inherit Metab Dis 2006; 29: 157-161.