Presentation
In the tumor margin, pancreatic alpha cell hyperplasia is pervasive, numerous large islets composed of mostly alpha cells are evident, and multiple microadenomas and small neuroendocrine tumors often are present. [en.wikipedia.org]
ORPHA:438274 Synonym(s): Mahvash disease Prevalence: Inheritance: Autosomal recessive Age of onset: Adult ICD-10: E16.3 OMIM: - UMLS: - MeSH: - GARD: 10460 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Case Illustration A 47-year-old man presented with refractory PTH-independent hypercalcemia (13.95 mg/dL) and abdominal pain. [doi.org]
(Wednesday, May 29th 3:30-5:30 pm) ClinGen Posters and Presentations - ACMG 2019 Gene Disease Validity General Training Presentation Updated February 2018. [clinicalgenome.org]
Entire Body System
-
Pain
Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. [orpha.net]
Abdominal pain Abdominal pain Fatigue, diarrhea, weight loss Abdominal pain Abdominal pain Pancreatitis Hypercalcemia Glucagon 66 (NR 135 ULN 25 ULN Not performed 20,000 100,000 Pathology ACH ACH ACH Hyperplastic islets and microtumors ACH ACH Hyperplastic [doi.org]
This case report describes a 36-year-old female with a 10 years history of non-specific abdominal pain. No underlying cause was evident despite extensive diagnostic work-up. More recently she was diagnosed with gall bladder stones. [ncbi.nlm.nih.gov]
-
Fatigue
Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. [orpha.net]
[…] et al. ( 3 ) Sipos et al. ( 4 ) (Patient 1) Sipos et al. ( 4 ) (Patient 2) Sipos et al. ( 4 ) (Patient 3) Zhou et al. ( 5 ) Present Case Patient age, y/sex 36/F 25/M 43/F 58/M 60/F 48/M Presenting symptoms Abdominal pain Abdominal pain Abdominal pain Fatigue [doi.org]
[…] insufficiency, renal failure, hyperphagia, muscle wasting, diabetic neuropathy, diabetic retinopathy, or diabetic coma, excess HbA1c levels, polydipsia (increased thirst), xerostomia (dry mouth), polyphagia (increased hunger), polyuria (frequent urination), and fatigue [brevets-patents.ic.gc.ca]
-
Physician
Mahvash disease was discovered by American physician Run Yu and his colleagues in 2008. Mahvash disease is very rare. There have been over 10 cases of Mahvash disease described by the end of 2018. Mahvash disease occurs in both females and males. [en.wikipedia.org]
Ten 5-µm sections per pancreas were stained with hematoxylin and eosin (H&E) and histology was reviewed by two of the authors (one physician/scientist with extensive experience in pancreas histology and one pathologist specializing in gastrointestinal [doi.org]
-
Noncompliance
After the pancreatectomy, serum calcium has continued to remain just above the upper limit of normal with one episode of severe hypercalcemia (14.43 mg/dL) following a 9-month period of noncompliance to lanreotide. [doi.org]
-
Splenectomy
The patient underwent splenectomy and subtotal distal pancreatectomy with 65% of his large calcified pancreas being excised ( Fig. 1B ). Serum calcium initially improved ( Fig. 2 ). [doi.org]
Respiratoric
Gastrointestinal
-
Abdominal Pain
Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. [orpha.net]
pain Abdominal pain Abdominal pain Fatigue, diarrhea, weight loss Abdominal pain Abdominal pain Pancreatitis Hypercalcemia Glucagon 66 (NR 135 ULN 25 ULN Not performed 20,000 100,000 Pathology ACH ACH ACH Hyperplastic islets and microtumors ACH ACH Hyperplastic [doi.org]
This case report describes a 36-year-old female with a 10 years history of non-specific abdominal pain. No underlying cause was evident despite extensive diagnostic work-up. More recently she was diagnosed with gall bladder stones. [ncbi.nlm.nih.gov]
-
Diarrhea
Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. [orpha.net]
Sipos et al. ( 4 ) (Patient 1) Sipos et al. ( 4 ) (Patient 2) Sipos et al. ( 4 ) (Patient 3) Zhou et al. ( 5 ) Present Case Patient age, y/sex 36/F 25/M 43/F 58/M 60/F 48/M Presenting symptoms Abdominal pain Abdominal pain Abdominal pain Fatigue, diarrhea [doi.org]
Skin
-
Necrolytic Migratory Erythema
Glucagon cell adenomatosis: A new entity associated with necrolytic migratory erythema and glucagonoma syndrome. J Am Acad Dermatol. 2011 ; 65 ( 2 ): 458 – 459. 5.. [doi.org]
Musculoskeletal
-
Osteoporosis
Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.com]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]
The treatment of Mahvash disease currently focuses on managing the pancreatic neuroendocrine tumors. Small tumors can be monitored but large ones need to be resected. [en.wikipedia.org]
In the multiple dose cohorts, treatment consisted of eight doses of ISIS 325568 or placebo over 6-weeks. [chdr.nl]
[…] glucagon analogs that are biophysically stable and soluble in aqueous solutions has promoted biological study that has enriched our understanding of glucagon biology and ironically recruited glucagon agonism as a central element to lower body weight in the treatment [physrev.physiology.org]
Prognosis
Patients have increased LDL values from birth, and an increased cardiovascular risk, making early diagnosis and treatment imperative for improved prognosis. Three main causative genes have been associated with FH: LDLR, APOB and PCSK9. [clinicalgenome.org]
Etiology
Hyperglucagonemia is implicated in the etiology of this condition; however, effective therapies to block glucagon signaling and thereby regulate glucose metabolism do not exist.... [connection.ebscohost.com]
Epidemiology
SNPs for GCGR No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCGR Gene - elite association - COSMIC cancer census association via MalaCards Relevant External Links for GCGR Genetic Association Database (GAD) GCGR Human Genome Epidemiology [genecards.org]
Hospital Wels-Grieskirchen, Wels, 4600 Austria Search for other works by this author on: Walter Höbling 9 Institute of Epidemiology and Biobank POPGEN (W.L.), Christian-Albrechts-University, 24105 Kiel, Germany Search for other works by this author [doi.org]
Pathophysiology
[…] extensive historical record and the more recent provocative direction that integrates the prominent role of glucagon in glucose elevation with its under-acknowledged effects on lipids, body weight, and vascular health that have implications for the pathophysiology [physrev.physiology.org]
Further study is required to estimate the frequency of this association and understand the pathophysiology of the unexplained hypercalcemia. [doi.org]
Prevention
Glucagon Receptor Knockout Prevents Insulin-Deficient Type 1 Diabetes in Mice, Diabetes, 2011, 391-397, DOI: 10.2337/db10-0426 [paperity.org]
The interactions between the antagonist MK-0893 and a class B GCGR prevent the GCGR from transmitting a signal, even in the presence of glucagon (3). [collab.its.virginia.edu]
Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]
In patient 2, in whom we found two heterozygous germline point mutations, severe impairment of receptor function may be explained by the assumption that the two mutations which affect early stop codons may be located in different alleles and thus prevent [doi.org]