Acute intermittent porphyria presenting with rhabdomyolysis and polyneuropathy with severe quadriparesis and respiratory failure: A case report

Table 1 Relevant biochemistry workup results obtained in the regional hospital and in the University Hospital Centre intensive care unit

Parameter	Reference range	Admission to the regional hospital	Day of diagnosis	Discharge	Two years after discharge
Sodium (mmol/L)	137-146	127	126	139	141
Urea (mmol/L)	2.8-8.3	23.6	14.4	9.5	11.9
Creatinine (µmol/L)	49-90	549	413	112	179
C-reactive protein (mg/L)	< 5	31.4	3.7	1.2	-
Creatine kinase (U/L)	0-153	> 10000	1169	107	241
Aspartate aminotransferase (U/L)	8-30	4021	136	-	28
Alanine aminotransferase (U/L)	10-36	782	271	-	25
Ferritin (µg/L)	15-200	222.6	-	-	477.7
δ-aminolevulinic acid in a random urine sample (mmol/mol creatinine)	< 2.5	-	17	2.8	5.7
Porphobilinogen in a random urine sample (mmol/mol creatinine)	< 1.25	-	26	13	20.9
Uroporphyrin in a random urine sample (mmol/mol creatinine)	< 3.9	-	1538	-	-

Table 2 Chronological summary of the patient’s medical history

Year	Clinical encounters
January 2015	Admission to a regional hospital for an episode of abdominal pain. Appendectomy + adhesiolysis, no signs of acute appendicitis
October 2015	An episode of abdominal pain with vomitting for which she was evaluated and treated in the ED
2018	Outpatient neurological evaluation for bilateral weakness of dorsiflexion of the wrists and extension of the fingers in both hands EMNG demonstrated bilateral radial nerve damage; lost to neurological follow-up
May 10, 2022	Initiation of trimethoprim-sulfamethoxazole therapy for presumed recurrent UTI
May 27, 2022	Admission to the regional hospital for generalised weakness, rhabdomyolysis and AKI
May 30, 2022	Admission to the University Hospital Centre ICU for further workup and treatment
June 2, 2022	Diagnosis of AIP. Initiation of treatment with hemin and 20% glucose. Sudden development of acute respiratory failure and haemodynamic instability; invasive mechanical ventilation
September 15, 2022	Therapy changed from hemin to givosiran. Decannulation
December 2022	Discharge from the hospital. Patient mobile with crutches
January 2024	A mild AIP attack after extending the dosing interval of givosiran to two months
November 2024	Near-complete neurologic recovery with residual mild paresis of the feet and thumb extensors

ED: Emergency department; EMNG: Electromyoneurography; UTI: Urinary tract infection; AKI: Acute kidney injury; ICU: Intensive care unit; AIP: Acute intermittent porphyria.