Porphyric neuropathies in an acute intermittent porphyria family

Abstract

The objective of this study was to investigate two patients with porphyric neuropathy in a family with acute intermittent porphyria. Molecular analysis of the porphobilinogen deaminase (PBGD) gene was performed. We analyzed the clinical course of peripheral neuropathy and serial changes in nerve conduction studies (NCS) of the two patients. We also examined the pathological findings of sural nerve biopsy in one patient. Molecular analysis of the PBGD gene revealed a missense mutation (Arg26His) in exon 2 for two patients and their family members. Distal polyneuropathy was noted in the patients with chronic porphyric neuropathy. In the follow-up NCS, recovery was relatively poor in the lower limb in one patient with severe polyneuropathy, and NCS evidence of deterioration was found following frequent hormone-related porphyric attacks in another patient. The sural nerve biopsy showed marked loss of myelinated and unmyelinated fibers in one patient with chronic porphyric neuropathy. In contrast to radial and fibular motor nerves in acute porphyric neuropathy, the sural nerve is vulnerable to involvement in chronic porphyric neuropathy following repeated porphyric attack as seen in the NCS.

Prophylactic Heme Arginate Infusion for Acute Intermittent Porphyria

“…Female patients receiving weekly prophylactic HA (Normosang®, Orphan Europe) infusions at Chang Gung Memorial Hospital (CGMH), Linkou Medical Center, Taiwan, and who met the following criteria were included: 1) confirmed mutation in the PBGD gene and diagnosed with AIP; 2) Patients with frequent porphyric attacks, defined as having at least 9 attacks in the year prior and receiving more than one HA infusion for the attacks (The data for ALA and PBG level associated with reported attacks is presented in Supplementary Table S1); 3) received genetic counseling and were educated to avoid potential triggering factors of AIP acute attacks; and 4) had been receiving weekly infusions of HA (3 mg/kg body weight) prophylactically to prevent AIP attacks. Electrophysiological findings of the patients with neurologic porphyria have been reported in our prior studies (Kuo et al, 2011;Wu et al, 2015;Kuo et al, 2016;Lin et al, 2018).…”

Importance of Screening Acute Intermittent Porphyria in Severe Sensorimotor Polyneuropathy Misdiagnosed as Guillain–Barré Syndrome: A Case Report

“…Onset distribution is important to rule out other neuropathies. The disease starts in the upper extremities in 50% of patients, whereas proximal muscles, rather than distal ones, are involved in 80% of cases [6][7][8]. But in this case, symmetric sensorimotor involvement was found in early stage.…”

“…Some limitations are still existing, such that acute motor axonal neuropathy (AMAN) type is prevalent among Far East Asian, and that severe cases without any action potentials are difficult to specify [9]. Unlike most of other cases, a follow up study was conducted after 3 months, and we could find out some regeneration signs as symptoms improved [3,[6][7][8]. With more studies, it could provide some chances to follow up NCS, EMG as a prognostic tool that might be correlated with clinical features.…”

An Analysis and Literature Review of a Family Case of Acute Intermittent Porphyria With Initial Symptoms of Epileptic Seizure

“…Elevated estrogen levels in pregnant women can induce acute attacks of AIP, and ALA can be toxic to the fetal brain through the placenta, so patients with AIP are recommended to become pregnant only after at least two years in remission [ 34 ]. At the same time, the family members of minors should actively make relevant genetic diagnoses because it can reduce the probability of acute attack in patients who have been diagnosed with AIP in the asymptomatic stage to 5% [ 35 ]. Therefore, early detection, early diagnosis, early treatment, and identification of the relevant aggravating factors should be performed to avoid the serious adverse consequences caused by acute attacks of AIP.…”