Large Retroperitoneal Paraganglioma Associated with Germline Mutation of the Succinate Dehydrogenase Gene

Paragangliomas (PGLs) are rare neural tumors that can be benign or malignant and often associated with familial syndromes. We present a case of a 23-year-old male with a large retroperitoneal PGL found incidentally during the workup of elevated liver enzymes. After surgical excision, the patient was found to have an autosomal dominant mutation in the succinate dehydrogenase B (SDHB) gene, which when compared to sporadic PGLs or other familial syndromes is associated with a higher risk of tumor recurrence, occult metastasis, and development of other cancers. The patient’s first-degree relatives were recommended to undergo screening for the genetic mutation.

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Transaminitis Evaluation Leads to the Incidental Diagnosis of Familial Paraganglioma Due to SDHB Mutation

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.327 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A161-A162

Author(s):

Anderson Okafor ◽

Anitha Yelangi ◽

Julie Samantray

Keyword(s):

Succinate Dehydrogenase ◽

Gene Mutations ◽

Pet Scan ◽

Retroperitoneal Mass ◽

Sdhb Mutation ◽

Elevated Liver Enzymes ◽

History Of ◽

Sdhb Gene ◽

Succinate Dehydrogenase Subunit B ◽

Subunit B

Abstract Background: Paragangliomas are rare neuroendocrine tumors. Patients with succinate dehydrogenase subunit B (SDHB) gene mutations are predisposed to developing paraganglioma/pheochromocytoma. We are presenting the case of an incidental finding of a paraganglioma during an evaluation for transaminitis. Clinical Case: A 23-year-old male with a medical history of right hydrocele repair as a teenager was evaluated with an ultrasound of the abdomen for elevated liver enzymes and right upper quadrant discomfort. The ultrasound revealed a large lobular solid vascular 13.8 x 8.1 x 11.3 cm mass in the mid abdomen. He underwent a CT of the chest, abdomen and pelvis which demonstrated a large retroperitoneal mass measuring 16 x 10 x 13.7 cm within the right mid abdomen. The mass was described as a large centrally necrotic peripherally enhancing right retroperitoneal mass displacing the IVC anteriorly. The patient subsequently underwent an image-guided biopsy of the mass and the pathology revealed it was a paraganglioma. The patient denied any history of hypertension, orthostasis, headaches or palpitations. Biochemical workup for plasma catecholamines, plasma metanephrines, 24-hour urine catecholamines and metanephrines and cortisol were unremarkable. His transaminitis also resolved. He underwent a retroperitoneal paraganglioma excision and the final pathology was consistent with paraganglioma and negative for capsular invasion. He was referred to a genetic counsellor for testing since paragangliomas can be inherited. He also mentioned a family history of breast cancer in his mother and HTN and prostate cancer in his father. His test revealed that he had a c.289A>T mutation in his SDHB gene. He was encouraged to share the information with his family to help them understand the implications of his genetic test result. He underwent a surveillance PET scan which showed multiple osseous lesions in his temporal calvarium, sphenoid, spine and sacrum suggestive of metastasis. Repeat imaging with a DOTATATE PET scan showed stable disease. His transaminitis was transient, and we did not find a correlation to his paraganglioma. His imaging tests showed no liver metastasis. A CT of the head showed no evidence of intracranial metastasis. The current plan is to continue surveillance. His older brother underwent a genetic testing. He tested positive for the same SDHB mutation and underwent biochemical and imaging tests which were unremarkable. He too will continue surveillance. Conclusions: Patients with a succinate dehydrogenase subunit B (SDHB) gene mutations are predisposed to developing paraganglioma/pheochromocytoma. The tumors produce catecholamines, but can be biochemically silent as in our patient. They are inherited in an autosomal dominant manner. Our case highlights the importance for genetic counseling which increases the chances of early screening and surveillance in affected family members for optimal multidisciplinary management of patients.

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Hepatitis A Antigen in Liver, Bile and Stool

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100115328 ◽

1975 ◽

Vol 33 ◽

pp. 340-341

Author(s):

D.R. Jackson ◽

J.H. Hoofnagle ◽

A.N. Schulman ◽

J.L. Dienstag ◽

R.H. Purcell ◽

...

Keyword(s):

Hepatitis A ◽

Liver Enzymes ◽

Hepatitis A Virus ◽

Type A ◽

Initial Study ◽

Virus Like Particle ◽

Elevated Liver Enzymes ◽

Ag Particles ◽

Ag Particle ◽

Human Stool

Using immune electron microscopy Feinstone et. al. demonstrated the presence of a 27 nm virus-like particle in acute-phase stools of patients with viral hepatitis, type A, These hepatitis A antigen (HA Ag) particles were aggregated by convalescent serum from patients with type A hepatitis but not by pre-infection serum. Subsequently Dienstag et. al. and Maynard et. al. produced acute hepatitis in chimpanzees by inoculation with human stool containing HA Ag. During the early acute disease, virus like particles antigenically, morphologically and biophysically identical to the human HA Ag particle were found in chimpanzee stool. Recently Hilleman et. al. have described similar particles in liver and serum of marmosets infected with hepatitis A virus (HAV). We have investigated liver, bile and stool from chimpanzees and marmosets experimentally infected with HAV. In an initial study, a chimpanzee (no.785) inoculated with HA Ag-containing stool developed elevated liver enzymes 21 days after exposure.

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Differential diagnosis of elevated liver enzymes: case reports

Zeitschrift für Gastroenterologie ◽

10.1055/s-2008-1079648 ◽

2008 ◽

Vol 46 (05) ◽

Author(s):

T Korom ◽

I Nagy ◽

É Csajbók ◽

T Wittmann

Keyword(s):

Differential Diagnosis ◽

Liver Enzymes ◽

Case Reports ◽

Elevated Liver Enzymes

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THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

Nephrology (Saint-Petersburg) ◽

10.24884/1561-6274-2019-23-2-100-108 ◽

2019 ◽

Vol 23 (2) ◽

pp. 100-108

Author(s):

S. V. Papizh ◽

O. R. Piruzieva

Keyword(s):

Sanger Sequencing ◽

Clinical Observation ◽

Liver Enzymes ◽

Renal Ultrasound ◽

Nuclear Factor ◽

Hepatocyte Nuclear Factor ◽

Renal Hypoplasia ◽

Unilateral Renal Agenesis ◽

Elevated Liver Enzymes ◽

Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

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Haemolysis, elevated liver enzymes and low platelets: Diagnosis and management in critical care

Journal of the Intensive Care Society ◽

10.1177/17511437211025410 ◽

2021 ◽

pp. 175114372110254

Author(s):

Evangelia Poimenidi ◽

Yavor Metodiev ◽

Natasha Nicole Archer ◽

Richard Jackson ◽

Mansoor Nawaz Bangash ◽

...

Keyword(s):

Acute Kidney Injury ◽

Critical Care ◽

Liver Failure ◽

Hellp Syndrome ◽

Seizure Control ◽

Liver Enzymes ◽

Kidney Injury ◽

Definitive Treatment ◽

Multisystem Disease ◽

Elevated Liver Enzymes

A thirty-year-old pregnant woman was admitted to hospital with headache and gastrointestinal discomfort. She developed peripheral oedema and had an emergency caesarean section following an episode of tonic-clonic seizures. Her delivery was further complicated by postpartum haemorrhage and she was admitted to the Intensive Care Unit (ICU) for further resuscitation and seizure control which required infusions of magnesium and multiple anticonvulsants. Despite haemodynamic optimisation she developed an acute kidney injury with evidence of liver damage, thrombocytopenia and haemolysis. Haemolysis, Elevated Liver enzymes and Low Platelets (HELLP) syndrome, a multisystem disease of advanced pregnancy which overlaps with pre-eclampsia, was diagnosed. HELLP syndrome is associated with a range of complications which may require critical care support, including placental abruption and foetal loss, acute kidney injury, microangiopathic haemolytic anaemia, acute liver failure and liver capsule rupture. Definitive treatment of HELLP is delivery of the fetus and in its most severe forms requires admission to the ICU for multiorgan support. Therapeutic strategies in ICU are mainly supportive and include blood pressure control, meticulous fluid balance and possibly escalation to renal replacement therapy, mechanical ventilation, neuroprotection, seizure control, and management of liver failure-related complications. Multidisciplinary input is essential for optimal treatment.

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Long-term mortality due to infection associated with elevated liver enzymes: a population-based cohort study

Scientific Reports ◽

10.1038/s41598-021-92033-1 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Tak Kyu Oh ◽

Eun Sun Jang ◽

In-Ae Song

Keyword(s):

Cohort Study ◽

Liver Enzymes ◽

Adult Population ◽

Population Based ◽

Study Data ◽

Point Increase ◽

Elevated Liver Enzymes ◽

Glutamyl Transpeptidase ◽

Long Term Mortality

AbstractWe aimed to investigate whether elevated liver enzymes in the adult population were associated with mortality due to infection. As a population-based cohort study, data from the National Health Insurance Service Health Screening Cohort were used. Adult individuals (aged ≥ 40 years) who underwent standardized medical examination between 2002 and 2003 were included, and infectious mortality was defined as mortality due to infection between 2004 and 2015. Aspartate transaminase (AST), alanine aminotransferase (ALT), γ-glutamyl transpeptidase (γ-GTP), AST/ALT ratio, and dynamic AST/ALT ratio (dAAR) were included in multivariable Cox modeling. A total of 512,746 individuals were included in this study. Infectious mortality occurred in 2444 individuals (0.5%). In the multivariable model, moderate and severe elevation in AST was associated with 1.94-fold [hazard ratio (HR):1.94, 95% confidence interval (CI) 1.71–2.19; P < 0.001] and 3.93-fold (HR: 3.93, 95% CI 3.05–5.07; P < 0.001) higher infectious mortality respectively, compared with the normal AST group. Similar results were observed for moderate and severe elevation in ALT and mild, moderate, and severe elevation in γ-GTP. Additionally, a 1-point increase in the AST/ALT ratio and dAAR was associated with higher infection mortality. Elevated liver enzymes (AST, ALT, AST/ALT ratio, γ-GTP, and dAAR) were associated with increased infectious mortality.

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Assessment of the relationship of serum liver enzymes activity with general and abdominal obesity in an urban Bangladeshi population

Scientific Reports ◽

10.1038/s41598-021-86216-z ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Nurshad Ali ◽

Abu Hasan Sumon ◽

Khandaker Atkia Fariha ◽

Md Asaduzzaman ◽

Rahanuma Raihanu Kathak ◽

...

Keyword(s):

General Population ◽

Abdominal Obesity ◽

Liver Enzymes ◽

Serum Levels ◽

General Obesity ◽

Enzymes Activity ◽

Elevated Liver Enzymes ◽

Bangladeshi Population ◽

Relationship Of ◽

The Relationship

AbstractObesity is a global health concern because of its increasing trend both in developed and developing countries. A limited number of studies have evaluated the association of liver enzymes with both general and abdominal obesity in the general population; data for the Bangladeshi population are not available yet. This study aimed to assess the relationship of serum liver enzymes activity with both general and abdominal obesity in Bangladeshi adults. In total, 540 blood samples were obtained from the participants (388 males and 152 females) and analyzed for serum levels of ALT, AST, GGT, and ALP using standard methods. General obesity was defined as body mass index (BMI) ≥ 27.5 kg/m2 and abdominal obesity was defined as waist circumference (WC) ≥ 90 cm in males and ≥ 80 cm in females. The relationship between liver enzymes and obesity was evaluated by multivariate logistic regression models. Overall, 58% of participants in the general obesity group and 55% of the participants in the abdominal obesity group had at least one or more elevated levels of liver enzymes. The prevalence of elevated liver enzymes was significantly higher in the obesity group compared to the normal BMI and WC groups (p < 0.05 for all cases). The mean level of serum ALT, AST and GGT were significantly higher in the obesity group than the normal BMI group (p < 0.05). In the WC groups, mean AST and GGT were significantly higher in the obesity group compared to the normal group (p < 0.05). In regression analysis, serum levels of ALT showed an independent and significant association with general obesity, whereas, serum GGT showed a significant association with both general and abdominal obesity. In conclusion, a high prevalence of elevated liver enzymes was observed among participants included in the present study. Of the four enzymes, serum GGT was independently associated with both general and abdominal obesity. Further studies are required to understand the complex relationship between liver enzymes and obesity in the general population.

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