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Disease Profile

Glucagonoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

E16.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Glucagonoma syndrome; Pancreatic Glucagonoma

Categories

Rare Cancers

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 97280

Definition
Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET; see this term) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms.

Epidemiology
The estimated incidence in the general population is 1/20, 000,000.

Clinical description
Glucagonoma usually presents in the fifth decade of life with the initial symptom often being necrolytic migratory erythema. This skin condition is characterized by a red, blistering and migratory rash, associated with an intense pruritus and that is mainly localized to the lower extremities and the groin. Diabetes is present in most cases and requires insulin therapy. Weight loss, anemia, mucosal abnormalities (glossitis, cheilitis, stomatitis), gastrointestinal disturbances, thromboembolism and neuropsychiatric symptoms (depression) are other frequent manifestations. Most glucagonomas have already metastasized by the time that they are diagnosed, mainly to the liver. In some cases glucagonoma may be associated with multiple endocrine neoplasia type 1 (MEN1; see this term). Glucogonoma can be non-functioning in rare cases.

Etiology
The etiology is unknown. These tumors of 2-25 cm mainly occur in the tail of the pancreas. They synthesize and secrete glucagon, which is responsible for balancing the effects of insulin, and is therefore essential in regulating blood sugar levels.

Diagnostic methods
Diagnosis is based on clinical findings and endocrine tests. Serum glucagon levels are markedly elevated (>500 pg/mL) and levels of more than 1000 pg/mL are considered diagnostic if the patient also displays features of glucagonoma syndrome. Other hormones such as insulin, somatostatin and vasoactive intestinal peptide may also be elevated. Levels of blood chromogranin A are increased. Localization of tumors is possible by computed tomography (CT) scan, octreotide scan, magnetic resonance imaging (MRI) and/or endoscopic ultrasound.

Differential diagnosis
Differential diagnoses include familial hyperglucagonemia, autoimmune and hereditary chronic pancreatitis, Mahvash disease, acrodermatitis enteropathica (see these terms) and cirrhosis.

Management and treatment
Somatostatin analogues (octreotide or lanreotide) are usually effective in leading to a remission of rash in most patients as well as improving the symptoms of weight loss, abdominal pain and diarrhea. Glycemia is managed by insulin injections or anti-diabetic drugs. Parenteral nutrition (with essential fatty acids, amino acids, vitamins and minerals) may also be necessary. Surgical resection is the only curative option in localized cases. Surgical debulking followed by chemotherapy may be an option in extensive tumors. Resection of the lymph nodes, spleen and parts of the liver containing metastasized glocagonoma may also be necessary. As thromboembolic complications can occur, blood thinners (antiplatelets and anticoagulants) may be recommended.

Prognosis
The prognosis of glucagonoma is usually poor as most have metastasized by the time that they are discovered. Those associated with MEN1 usually have a fairer prognosis as they are diagnosed sooner.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

0002894
30%-79% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Acanthocytosis
0001927
Anorexia
0002039
Chronic fatigue
Chronic extreme exhaustion
0012432
Constipation
0002019
Diabetes mellitus
0000819
Diarrhea
Watery stool
0002014
Episodic abdominal pain
0002574
Glossitis
Inflammation of the tongue
Smooth swollen tongue

[ more ]

0000206
Hepatomegaly
Enlarged liver
0002240
Nausea and vomiting
0002017
Necrolytic migratory erythema
0031181
Normochromic anemia
0001895
Poor appetite
Decreased appetite
0004396
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Skin rash
0000988
Stomatitis
Inflammation of the mouth
0010280
Weight loss
0001824
5%-29% of people have these symptoms
Abnormal gastrointestinal motility
0030895
Ascites
Accumulation of fluid in the abdomen
0001541
Depressivity
Depression
0000716
Extrahepatic cholestasis
0012334
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Intermittent jaundice
Intermittent yellow skin
Intermittent yellowing of skin

[ more ]

0001046
Intestinal obstruction
Bowel obstruction
Intestinal blockage

[ more ]

0005214
Intrahepatic cholestasis
0001406
Lack of bowel sounds
0030145
Steatorrhea
Fat in feces
0002570
Thromboembolism
0001907
1%-4% of people have these symptoms
Abnormality of the thyroid gland
Thyroid abnormality
0000820
Adrenocortical adenoma
0008256
Growth hormone excess
0000845
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

0003072
Increased circulating cortisol level
0003118
Increased circulating gonadotropin level
Elevated gonadotropins
Elevated serum gonadotropins
Gonadotropin excess

[ more ]

0000837
Increased circulating prolactin concentration
0000870
Parathyroid adenoma
0002897
Pituitary adenoma
Noncancerous tumor in pituitary gland
0002893
Primary hyperparathyroidism
0008200
Subcutaneous lipoma
0001031

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glucagonoma. Click on the link to view a sample search on this topic.