Illnesses supported
Pancreatic cysts
Serous Cystadenoma
What is serous cystadenoma ?
A benign, cystic, multilocular tumour of the pancreas.
How is it diagnosed?
It may be discovered by chance or in case of non-specific abdominal pains, on an MRI or scan of the pancreas. This lesion most often affects women ages 60-70.
Pancreatic imaging is used in most cases to make a diagnosis (CT scan; MRI): single tumour, with no communication with the pancreatic ducts. It is composed of multiple cysts with a honeycomb appearance +/- central calcification. In 10% of cases, there is a macrocyst form.
An endoscopic ultrasound completes the exam, in case of doubt after CT scan and MRI. It is possible to puncture the cyst for analysis: tumour markers (CEA and CA 19.9) are low, such as lipase.
How is it treated ?
It is a benign lesion that requires no treatment or follow-up in the absence of symptoms. Complications involving compression of the hepatic ducts are rare.
Mucinous Cystadenoma
What is mucinous cystadenoma?
A pre-cancerous pancreatic cystic neoplasm with an epithelial coating that secretes mucin and an ovarian-type stroma.
How is it diagnosed?
Most frequently found in women (sex ratio: 9/1) in their 40s or 50s.
The lesion is often discovered when exploring the causes of poorly systematised abdominal pains (discovery by chance).
The diagnosis is often established based on imaging data (CT scan and MRI): single, macrocystic lesion with thick walls found in the body or tail of the pancreas, without communication with the pancreatic ducts.
In case of doubt, puncture of the cyst may be done during an endoscopic ultrasound. In this case, tumour markers (CEA and CA 19.9) are high.
How is it treated?
Surgery is recommended when the cysts are larger than 4 cm or in case of troubling signs (parietal nodules or thick walls).
In older patients or those with co-morbidities, if there are no parietal nodules, lesions of less than 4 cm may be closely monitored.
Source: Reference Centre for Rare Pancreatic Diseases and Disorders
Relevant reference centre: PaRaDis
Genetic Pancreatitis
Hereditary Pancretitis Related To PRSS1 Mutations
What is PRSS1-related hereditary pancreatitis?
Chronic pancreatitis of genetic origin due to mutations of the PRSS1 gene (serine protease 1) which codes for cationic trypsinogen. Transmission is autosomal dominant, penetrance is high but incomplete (> 80%). Prevalence is 6/100,000.
The mutation provokes an alteration of a self-cleavage site of the trypsin molecule. As it accumulates, trypsin activates the pancreatic enzymatic cascade in an early, unsuitable manner around the acinar cells, thus provoking repeated, acute pancreatitis.
How is it diagnosed ?
Two circumstances are evocative: young age at the start of symptoms or a family history of pancreatitis.
An analysis for mutation of the PRSS1 gene is performed after the patient's written consent is obtained.
What is its specific treatment ?
There is no specific treatment for chronic hereditary pancreatitis. In particular, there is no gene therapy. Treatments are above all symptomatic (pain care) and related to complications. In all cases, treatments must be multi-disciplinary, and social and psychological dimensions must always be taken into account.
Medical treatment is above all symptomatic, and the whole range of analgesics for WHO steps 1, 2 or 3 must be used as needed. However, care must be taken in case of long-term use of opioids (chronic usage > 6 months). They are thus of limited interest, and there is a real risk of dependence and social withdrawal (particularly in teenage patients). All alternatives must thus be envisaged: relaxation therapy, hypnosis, treatments of neuropathic pain (pregabalin, etc.), antidepressants, feeding exclusively by tube for four weeks during inflammatory phases in order to break the pain cycle, endoscopy, surgery, etc. It is essential:
- to obtain suitable health and diet advice to minimise the risk of flare-ups: to stop smoking, limit alcohol consumption, follow a balanced diet with limited consumption of cooked fats (fried foods, etc.) ;
– take an annual test for diabetes, exocrine pancreatic insufficiency and cholestasis. The risk of occurrence of pancreatic adenocarcinoma is increased with PRSS-related hereditary pancreatitis, in particular in smokers. This justifies testing starting at age 40 with an annual MRI of the pancreas..
Genetic Pancreatitis Related To SPINK1 Mutations
What is SPINK1-related genetic pancreatitis?
Pancreatitis with autosomal recessive transmission favoured by mutations of the SPINK1 gene (Serine Protease Inhibitor Kazal type 1) coding for the inhibitor of cationic trypsinogen.
Prevalence is 10/100,000.
The alteration of SPINK1 is not the sole cause of pancreatitis. It is one factor that is combined with other factors, both environmental and genetic (CFTR, PRSS1).
How is it diagnosed?
The diagnosis of a SPINK1 mutation is done via genetic testing after getting the patient's written consent.
Genetic Pancreatitis Related To CTRC Mutations
What is CTRC-related genetic pancreatitis?
Pancreatitis with autosomal recessive transmission favoured by mutations of the CTRC gene (Chymotrypsin C). The alteration of CTRC is not the sole cause of pancreatitis. It is a facilitating factor in repeated pancreatitis in the heterozygote state due to loss of its protective function (chymotrypsin C in its normal state enables intra-acinar breakdown of trypsin). Prevalence is one to nine per 100,000.
How is it diagnosed?
The diagnosis of a CTRC mutation is done via genetic testing after getting the patient's written consent.
Genetic Pancreatitis Related To CFTR Mutations
What is CFTR-related genetic pancreatitis?
Pancreatitis with autosomal recessive transmission favoured by mutations of the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator), coding for the chloride channels of ductal cells.
This is a factor causing a predisposition to pancreatitis, even in the absence of patent cystic fibrosis.
Prevalence is one to nine per 100,000.
How is it diagnosed?
The diagnosis of a CFTR mutation is done via genetic testing after getting the patient's written consent.
Sources: Reference Centre for Rare Pancreatic Diseases and Disorders
Relevant reference centre: PaRaDis
Association pour les pancréatites chroniques héréditaires (French Chronic Hereditary Pancreatitis Association): A.P.C.H
Request for genetic analysis in the context of chronic pancreatitis (Brest University Hospital)
To request analysis of the panel of genes involved in chronic pancreatitis, you can send the blood sample to the MOLECULAR GENETICS laboratory of Brest University Hospital accompanied by the following documents:
Autoimmune Pancreatitis
TYPE-1 Autoimmune Pancreatitis
What is type-1 autoimmune pancreatitis in the framework of an IgG4-related disease?
Lymphoplasmacytic sclerosing pancreatitis as part of a systemic fibroinflammatory disease that may affect several organs (liver, kidneys, lungs, etc.).
How is it diagnosed?
Type-1 autoimmune pancreatitis manifests itself mainly in men (80% of cases) ages 50 and over. Revealing symptoms may include obstructive jaundice secondary to a cephalic pancreatic mass or the presence of cholangitis (intrapancreatic or diffuse cholangitis of the biliary tree). Other symptoms may include clear alteration of general health, with diabetic decompensation, anorexia and weight loss, thus mimicking pancreatic adenocarcinoma. As an IgG4-type disease, complications involving other organs (whether synchronous or metachronous) are present in more than 50% of cases. The patient may thus show symptoms of these extrapancreatic complications.
Imaging is used to establish the autoimmune origin (heterogeneity of the pancreatic parenchyma, peripancreatic halo, loss of pancreatic lobulations with “sausage” appearance, irregular diameter of the main pancreatic duct, tumour-like appearance). Other organs may be affected (cholangitis, retroperitoneal fibrosis, etc.).
The serum IgG4 level is high (> 1.35 g/L or more than twice the normal level) in most cases.
A pancreatic biopsy, if performed, will reveal a lymphoplasmacytic infiltrate and the presence of plasmacytes strongly expressing the anti-IgG4 antibody.
What is its specific treatment?
In case of symptoms, treatment is based on corticosteroids (40 mg/day) for one month, followed by progressive decrease in dosage. In case of resistance to or dependence on corticosteroids, treatment with immunomodulators should be discussed in a specialised centre.
Recommendations on IgG4 diseases: United European Gastroenterology (UEG) Webinar
Follow the UEG webinar presenting the new management recommendations for IgG4 pathologies by:
Jonas ROSENDAHL and Matthias LÖHR (Internal Medicine I, Martin Luther University of Halle, Germany)
and Vinciane REBOURS (Pancreaty Service, Beaujon Hospital, Clichy, University of Paris, France)TYPE-2 Autoimmune Pancreatitis
What is type-2 autoimmune pancreatitis?
Pancreatitis that is secondary to destruction of ductal epithelial cells via infiltration of neutrophilic polynuclear compounds.
How is it diagnosed?
Type-2 autoimmune pancreatitis manifests itself mainly as acute, isolated and benign pancreatitis. The sex ratio is one to one, and symptoms generally begin to appear at around age 40. Twenty to thirty percent of patients have a related chronic inflammatory bowel disease (IBD). The serum IgG4 level is normal.
Imaging is used to establish the autoimmune origin (heterogeneity of the pancreatic parenchyma, peripancreatic halo, loss of pancreatic lobulations with “sausage” appearance, irregular diameter of the main pancreatic duct).
A pancreatic biopsy, if performed, will reveal destruction of the ductal epithelial cells by infiltration of neutrophilic polynuclear compounds.
Diagnosis can be complex to perform. It is rare to obtain histological proof after puncture of the pancreas and revelation of a granulocytic epithelial lesion (GEL, a characteristic histological lesion). Diagnosis is thus based on the combination of morphological criteria by X-ray, the presence of related IBD and response to treatment with corticosteroids.
What is its specific treatment?
In case of symptoms, treatment is based on corticosteroids (40 mg/day) for one month, followed by progressive decrease in dosage. In case of resistance to or dependence on corticosteroids, treatment with immunomodulators should be discussed.
Source: Reference Centre for Rare Pancreatic Diseases and Disorders
Relevant reference centre: PaRaDis
Hypertriglyceridemia-Induced Pancreatitis
What is hypertriglyceridemia-induced acute pancreatitis?
Acute pancreatitis secondary to direct toxicity of free fatty acids (hydrolysis in the presence of excess triglycerides) and to ischemic phenomena.
How is it diagnosed?
Pancreatitis of hypertriglyceridemic origin may be diagnosed in case of serum triglyceride level > 10 mmol/L.
The serum triglyceride level returns to normal quickly after the start of acute pancreatitis.
How is it treated?
Identical treatment to that for classic pancreatitis.
Correction of favouring factors (uncontrolled diabetes, chronic alcoholism, excess weight).
Examination by an endocrinologist to conduct functional analyses, understand the origin of the hypertriglyceridemia, and propose suitable treatment.
Source: Reference Centre for Rare Pancreatic Diseases and Disorders
Relevant reference centre: PaRaDis
Cystic Dystrophy In Heterotopic Pancreas
What is a heterotopic pancreas?
A heterotopic pancreas is shown by the presence of ectopic pancreatic tissue in the duodenal wall. The most frequent locations of the heterotopic pancreas are the duodenum and the stomach. It is the consequence of anomalies in embryonic development.
What is cystic dystrophy in heterotopic pancreas?
Also known as paraduodenal pancreatitis or pancreatitis of the pancreatic-duodenal groove, cystic dystrophy in heterotopic pancreas (CDHP) is a benign disease corresponding to an inflammatory and fibrotic thickening of the duodenal wall, in which one or more cysts are found. Chronic tobacco or alcohol use plays a crucial role in its pathogenesis, probably owing to direct toxicity in the ectopic pancreatic tissue (which is more sensitive to alcohol) and an increase in the viscosity of pancreatic secretions leading to obstruction of the minor papilla. Duodenal stenosis may occur. Association with chronic pancreatitis is present in two out of three cases.
How is CDHP diagnosed?
It is a rare pathology, and its incidence is not known.
CDHP occurs mostly in men in their 40s with chronic alcoholism and tobacco use. Pain is the most frequent symptom, sometimes associated with weight loss, vomiting (in relation with upper intestinal obstruction), obstructive jaundice (owing to compression of the main biliary duct) and episodes of acute pancreatitis.
Positive diagnosis is based on the combination of endoscopic exams and imaging, which also enable exclusion of a pancreatic or ampullary tumour as possible cause.
Endoscopy of the upper digestive tract may reveal muscosal oedema of the genu superius, which may be complicated by duodenal stenosis. CT scan, magnetic resonance imaging (MRI) and endoscopic ultrasound show duodenal thickening, the presence of one or more cysts in the duodenal wall, densification of peripancreatic fat in the cephalic portion, chronic pancreatic lesions (calcifications, dilation of the Wirsung duct, etc.), gastric distension in relation with duodenal stenosis.
What is its specific treatment?
Care is based on treating the addictions. In the acute phase, pain relievers and artificial nutrition are necessary. In case of failure, an endoscopic treatment by endoscopic retrograde cholangiopancreatography (ERCP) or endoscopic ultrasound is possible. Surgery may be undertaken in case of failure in medical treatment.
Source: Reference Centre for Rare Pancreatic Diseases and Disorders
Relevant reference centre: PaRaDis
Pancreatitis Secondary To Hypercalcaemia
Pancreatitis due to hypercalcaemia
Pancreatitis associated with hypercalcaemia occurs chiefly in hyperparathyroidism. Incidence of hyperparathyroidism in association with primary pancreatitis ranges between 1.5% and 7%. This can reach 25% in cases of acute hyperparathyroidism. This variability is due to the association with other potential causes, such as chronic alcoholism or gallstones, coexisting in almost 60% of cases. Pancreatitis affects males more often than females (54 %), whereas hyperparathyroidism is markedly more common in women. In the majority of cases, pancreatitis reveals hyperparathyroidism. The parathyroid lesion is adenoma in 70 - 80 % of cases, and hyperplasia (10 %) or cancer (10 %).
All types of pancreatitis can occur. Chronic calcifying pancreatitis is the most frequent (40% of cases). Some of this pancreatitis is clinically latent, with calcifications being discovered during the assessment of hyperparathyroidism. Most cases are symptomatic, painful, and indicative of hyperparathyroidism. Acute inaugural pancreatitis occurs in 1/3 of cases, and recurs in 12% of cases. The clinical signs are unremarkable: abdominal pain occurs in 2 out of 3 cases. The presence of bone (25%) or kidney (urolithiasis: 40%) abnormalities should suggest hyperparathyroidism.
How is the diagnosis made?
Biological diagnosis is based on determination of the calcium serum level, which is constantly high. In the subclinical or emerging forms, alternating hyper-/normocalcaemia could be observed.
Cases of pancreatitis due to hypercalcaemia without hyperparathyroidism have been reported: paraneoplastic syndromes of breast and kidney cancer, myeloma, leiomyosarcoma, acute T cell leukaemia, total parenteral nutrition, parenteral administration of calcium, hypervitaminosis D...
The exact mechanism of pancreatitis is completely unknown.
What are the treatment options?
Pancreatitis due to hyperparathyroidism should be treated by ablation of the hormone-secreting lesion. Rapid parathyroidectomy allows complete regression of clinical and laboratory signs in pancreatitis.
Solid Pseudopapillary Neoplasm (SPN) Or Frantz’s Tumour
What is SPN or Frantz’s tumour?
Solid pseudopapillary neoplasm (SPN) or Frantz’s tumours are rare tumours described in 1959 by Frantz. The prevalence is unknown. Gender ratio is essentially female: 1/10. SPN occurs most commonly in black populations (>50%) and young women (<30 years of age). It is usually discovered by chance. Complications are possible in large tumours: intralesional haemorrhage and pain due to capsular pressure or rupture. Mean diameter at diagnosis is considerable: >9 cm. This type of benign exocrine tumour is mixed, solid and liquid. In 2/3 cases it is located in the pancreatic body and tail.
What are the treatment options?
Treatment is essentially early surgical resection. Complete ablation of the capsule (active tumour zone) is important to limit the risk of relapse, and to perform a bloc resectionso as to limit risk of dissemination.
Similarly, where SPN is suspected, it is highly inadvisable to perform needle biopsy, to limit the risk of rupture or dissemination.
The few documented cases report a low risk of malignity; nevertheless, 5% - 15% of metastasized cases were noted, and a 3% - 5% mortality rate. If resection is complete, with no rupture of the capsule, the risk of recurrence is virtually nil.
In cases of synchronous hepatic and/or peritoneal metastases, total resection of the lesions is advisable. The literature reports resections (+/- following chemotherapy depending on cases, no recommendations concerning protocol), and similarly in rare cases of liver transplant.
