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Acute Intermittent Porphyria—A Diagnostic Dilemma
JOURNAL OF CLINICAL AND EXPERIMENTAL HEPATOLOGY
Murtaza Kamal Safdarjung Hospital & VMMC, New Delhi, India
Porphyrias are metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway. AIP (deficiency of hydroxymethylbilane synthase) causes acute attacks due to secondary accumulation of heme precursors. It presents with abdominal pain, tachycardia, hypertension, hyponatremia, seizures, motor neuropathy, etc. Screening is done with qualitative urinary PBG and ALA. Urinary and fecal fractionated porphyrins and DNA testing provided the confirmation. Acute attacks are treated with IV hemin and glucose. Prevention of acute attacks is with smoking cessation and avoidance of inciting agents. A 11-year-old undernourished girl, on multiple antiepileptics, for 4 years (started for refractory seizures), presented with complaints of recurrent generalized abdominal pain with weight loss since the past 1 year, with constipation and poor oral acceptance since 10 days. Examination revealed tender epigastrium, decreased air entry on left side of chest, generalized muscle wasting, and paresthesias. Investigations revealed Hb 9 g/dl; TLC 8200/cu mm (77/ 20/01/02); platelets 1,84,000/cu mm; PS-normocytic normochromic; Na 131 meq/L; K 4 meq/L; Ca 8.9 mg/dl; PO4 3.3 md/dl; ALP 255 U/L; blood urea 49 mg/dl; serum creatinine 0.9 mg/dl; bilirubin 0.5 mg/dl; SGOT 54 U/L; SGPT 21 U/L; blood culture—no growth; HIV-NR; urine examination— normal; serum amylase 112U/L; serum lipase 71U/ L; lipid profile, carbamazepine level, and CXR—normal; PPD test –NR; GA for AFB—negative; USG abdomen, CECT abdomen, and brain—normal; CECT thorax-opacities and necrotic patches on left lower zone consistent with pulmonary tuberculosis; EEGpartial epilepsy with focus at right temporal lobe; serum lead level—normal; Urine for porphobilinogen, 5-ALA, and total porphyrins—positive; and NCV— Severe axonal motor and sensory neuropathy in all four limbs. A diagnosis of AIP with pulmonary tuberculosis with partial seizure with undernutrition was made. Antiepileptics were tapered gradually and gabapentine with modified ATT was started and the child responded very well. AIP should be kept in the differentials of chronic abdominal pain and patients with psychological symptoms. http://dx.doi.org/10.1016/j.jceh.2015.07.151
EVALUATION OF STRONGER NEOMINOPHAGEN-C (SNMC) IN PATIENTS WITH ACUTE HEPATITIS Kiran Reddyvari, Avinash Balekuduru, Umesh Jalihal, Satyaprakash Bonthala M.S. Ramaiah medical college and hospital, Bangalore, India
Background: Stronger Neo-Minophagen-C (SNMC) is an intravenous drug with glycyrrhizin as the principal ingredient. There is increasing evidence to indicate the therapeutic efficacy of SNMC in normalizing liver function tests (LFT) in patients with acute hepatitis. Objectives: To evaluate the efficacy of SNMC in patients with hepatitis of all etiologies without underlying chronic liver disease. Methods: In this study conducted at a tertiary care centre, 11 consecutive patients with deranged liver function tests, unresponsive to conventional treatment with ursodeoxycholic acid for 5 days, were selected and their response to SNMC was evaluated based on the improvement in the LFT values. 60 ml SNMC in 500 ml normal saline was administered as an intravenous infusion over 2 h once a day for 3 days and the LFT values were assessed on day 4. Results: The study group comprised 4 women and 7 men. Vomiting and abdominal pain were the presenting features. The most common etiology was hepatitis B (5/11). Based on LFT and PT values, marked improvement was observed in all 11 patients (100%). A significant reduction in alanine transaminase (ALT), aspartate aminotransferase (AST), prothrombin time (PT), and International Normalised Ratio (INR) was observed after 3 days of SNMC therapy using paired T test and Wilcoxon signed ranks test. There were no side effects noted during the infusion or follow-up. The median values (25–75 percentile) of AST, ALT, PT, and INR before SNMC administration were 1132 IU/Ml (128–1367), 1040 (145–2084), and 14.1 (13–18.1), 1.2 (1.2–1.58) and after SNMC administration were 160 (75–499), 507 (49.3–810), 13.2 (12.1–17.7), and 1.1 (1.0–1.48), respectively. The remaining values also showed decreasing trend but were insignificant. Conclusion: Administration of SNMC is useful in the improvement of ALT, AST, PT, and INR levels in patients with acute hepatitis. Larger studies are needed to confirm this pilot study results. Corresponding author: Kiran Reddyvari. E-mail: [email protected] http://dx.doi.org/10.1016/j.jceh.2015.07.152
Journal of Clinical and Experimental Hepatology | June/July 2015 | Vol. 5 | No. S2 | S69–S81
S75
Miscellaneous
ACUTE INTERMITTENT PORPHYRIA—A DIAGNOSTIC DILEMMA
Murtaza Kamal Safdarjung Hospital & VMMC, New Delhi, India
Porphyrias are metabolic diseases resulting from a partial deficiency of an enzyme in the heme biosynthetic pathway. AIP (deficiency of hydroxymethylbilane synthase) causes acute attacks due to secondary accumulation of heme precursors. It presents with abdominal pain, tachycardia, hypertension, hyponatremia, seizures, motor neuropathy, etc. Screening is done with qualitative urinary PBG and ALA. Urinary and fecal fractionated porphyrins and DNA testing provided the confirmation. Acute attacks are treated with IV hemin and glucose. Prevention of acute attacks is with smoking cessation and avoidance of inciting agents. A 11-year-old undernourished girl, on multiple antiepileptics, for 4 years (started for refractory seizures), presented with complaints of recurrent generalized abdominal pain with weight loss since the past 1 year, with constipation and poor oral acceptance since 10 days. Examination revealed tender epigastrium, decreased air entry on left side of chest, generalized muscle wasting, and paresthesias. Investigations revealed Hb 9 g/dl; TLC 8200/cu mm (77/ 20/01/02); platelets 1,84,000/cu mm; PS-normocytic normochromic; Na 131 meq/L; K 4 meq/L; Ca 8.9 mg/dl; PO4 3.3 md/dl; ALP 255 U/L; blood urea 49 mg/dl; serum creatinine 0.9 mg/dl; bilirubin 0.5 mg/dl; SGOT 54 U/L; SGPT 21 U/L; blood culture—no growth; HIV-NR; urine examination— normal; serum amylase 112U/L; serum lipase 71U/ L; lipid profile, carbamazepine level, and CXR—normal; PPD test –NR; GA for AFB—negative; USG abdomen, CECT abdomen, and brain—normal; CECT thorax-opacities and necrotic patches on left lower zone consistent with pulmonary tuberculosis; EEGpartial epilepsy with focus at right temporal lobe; serum lead level—normal; Urine for porphobilinogen, 5-ALA, and total porphyrins—positive; and NCV— Severe axonal motor and sensory neuropathy in all four limbs. A diagnosis of AIP with pulmonary tuberculosis with partial seizure with undernutrition was made. Antiepileptics were tapered gradually and gabapentine with modified ATT was started and the child responded very well. AIP should be kept in the differentials of chronic abdominal pain and patients with psychological symptoms. http://dx.doi.org/10.1016/j.jceh.2015.07.151
EVALUATION OF STRONGER NEOMINOPHAGEN-C (SNMC) IN PATIENTS WITH ACUTE HEPATITIS Kiran Reddyvari, Avinash Balekuduru, Umesh Jalihal, Satyaprakash Bonthala M.S. Ramaiah medical college and hospital, Bangalore, India
Background: Stronger Neo-Minophagen-C (SNMC) is an intravenous drug with glycyrrhizin as the principal ingredient. There is increasing evidence to indicate the therapeutic efficacy of SNMC in normalizing liver function tests (LFT) in patients with acute hepatitis. Objectives: To evaluate the efficacy of SNMC in patients with hepatitis of all etiologies without underlying chronic liver disease. Methods: In this study conducted at a tertiary care centre, 11 consecutive patients with deranged liver function tests, unresponsive to conventional treatment with ursodeoxycholic acid for 5 days, were selected and their response to SNMC was evaluated based on the improvement in the LFT values. 60 ml SNMC in 500 ml normal saline was administered as an intravenous infusion over 2 h once a day for 3 days and the LFT values were assessed on day 4. Results: The study group comprised 4 women and 7 men. Vomiting and abdominal pain were the presenting features. The most common etiology was hepatitis B (5/11). Based on LFT and PT values, marked improvement was observed in all 11 patients (100%). A significant reduction in alanine transaminase (ALT), aspartate aminotransferase (AST), prothrombin time (PT), and International Normalised Ratio (INR) was observed after 3 days of SNMC therapy using paired T test and Wilcoxon signed ranks test. There were no side effects noted during the infusion or follow-up. The median values (25–75 percentile) of AST, ALT, PT, and INR before SNMC administration were 1132 IU/Ml (128–1367), 1040 (145–2084), and 14.1 (13–18.1), 1.2 (1.2–1.58) and after SNMC administration were 160 (75–499), 507 (49.3–810), 13.2 (12.1–17.7), and 1.1 (1.0–1.48), respectively. The remaining values also showed decreasing trend but were insignificant. Conclusion: Administration of SNMC is useful in the improvement of ALT, AST, PT, and INR levels in patients with acute hepatitis. Larger studies are needed to confirm this pilot study results. Corresponding author: Kiran Reddyvari. E-mail: [email protected] http://dx.doi.org/10.1016/j.jceh.2015.07.152
Journal of Clinical and Experimental Hepatology | June/July 2015 | Vol. 5 | No. S2 | S69–S81
S75
Miscellaneous
ACUTE INTERMITTENT PORPHYRIA—A DIAGNOSTIC DILEMMA