Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient

Table 1

Main data from 15 reported cases of the coexistence of AHP and SLE.

Case	Author reference	Sex	Age	Disease sequence	Lapsed time	ANA titer	aPL	Lupus nephritis	SLE treatment	Family history AHPs	Genetic test
1	Wolfram [29]	F	30	SLE→AIP	4 months	U	U	U	NR	U	U
2	Marsden [11]	F	57	SLE→AIP	2 days	U	U	U	Chloroquine	U	U
3	Passaron et al. [12]	F	13	SLE→AIP	2 years	U	U	U	Chloroquine	U	U
4	Filiotou et al. [8]	F	31	SLE→AIP	1 year	U	U	U	Barbiturates	U	U
5	Quilichini and Guerder [30]	F	22	SLE→AIP	6 years	U	U	U	Steroids, analgesics	U	U
5	Vittori and Desaegher [31]	F	22	SLE→AIP	6 years	U	U	U	Steroids, analgesics	U	U
6	Rosemarin et al. [32]	F	39	SLE→AIP	2 years	1/640	U	Present	Steroids, phenobarbital, and propranolol	Absent	U
7	Allard and Scott [33]	F	47	SLE→AIP	15 years	NR	aCL+	Present	Steroids	Absent	U
8	Andersson and Lithner [15]	F	37	AIP→SLE	NR	NR (positive)	NR	Present	NR	NR	U
9	Alioua et al. [10]	F	24	SLE→HCP	6 months	1/80	NR	NR	Steroids	Present	U
10	Filiotou et al. [8]	F	43	AIP → SLE	20 years	1/640	NR	Absent	Thalidomide	Present	U
11	Korkmaz [9]	F	31	SLE→HCP	5 years	1/80	NR	NR	Steroids, methotrexate	U	U
12	Bharati et al. [14]	M	49	AIP→SLE	2 years	1/160	NR	NR	Steroids, MMF	Present	DNA sequencing of intron 14 of the HMBS: IVS14+1G→T
13	Patil et al. [13]	U	U	SLE→AIP	NR	NR	NR	NR	NR	U	U
14	Esteve-Valverde et al. [7]	M	51	SLE→AIP	10 days	1/1280	IgG-ab2GPI+	Absent	Steroids, HCQ, and azathioprine	Absent	U
15	Present case (2020)	F	30	SLE→HCP	6 years	1/640 (SLE); 1/160 (HCP)	Negative	Absent	Steroids, HCQ	Absent	WES: a splicing mutation of CPOX: c.700+2 T > C (intron 2)

Modified from Esteve-Valverde et al. [7]. AHPs: acute hepatic porphyrias; AIP: acute intermittent porphyria; ANA: antinuclear antibodies; SLE: systemic lupus erythematosus; HCP: hereditary coproporphyria; aPL: antiphospholipid antibodies; aCL: anticardiolipin; IgG-ab2GPI: IgG antiβ2-GPI; MMF: mycophenolate mofetil; HCQ: hydroxychloroquine; HMBS: hydroxymethylbilane synthase gene; WES: whole exome sequencing; CPOX: coproporphyrinogen III oxidase gene; NR: not referred; U: unknown. ^aSame patient.