Young Man with Chronic Pancreatitis in 15 of His Relatives - Hereditary Pancreatitis?

Author: V. Dimov, M.D.
Reviewer: S. Randhawa, M.D.

A 39-year-old African American male (AAM) with a past medical history (PMH) of chronic pancreatitis, diabetes, hypertension (HTN) is admitted to the hospitals with a chief complaint (CC) of abdominal pain for one month. He also complains of fever and chills, and 20-pound weight loss over 2 months.

Past medical history (PMH)

Chronic pancreatitis since he was 19-year-old. He was admitted to another hospital 2 weeks ago with the same abdominal pain, treated for pancreatitis and a PICC line was placed for PPN.

Family medical history (FMH)

15 male members on his father's side of the family that had DM and pancreatitis.

Social history (SH)

He has never been a heavy drinker, and completely quit drinking 2 years ago.

Medications

Lisinopril, Pancrease, Metoprolol, Elavil, Neurontin, Demerol, Remeron, Duragesic, Metformin.

Physical examination

VS 39.1-70-20-138/90.
Asking for pain meds for abdominal pain, in NAD.
PICC line - left upper arm.
Chest: CTA (B).
Abdomen: Soft, diffuse tenderness, no rebound, decreased BS.

What is the most likely diagnosis?

- Pancreatitis - acute, chronic or acute on chronic?
- Why is he febrile?
- Infected pseudocyst of the pancreas?

What laboratory workup would you suggest?

CBCD, CMP, Amylase, Lipase, Blood cultures x 2.
CT of the abdomen and pelvis.

Laboratory results

CBC, BMP, ESR, CRP (click to enlarge the images).

The CT of the abdomen showed calcifications in the pancreatic head and mildly dilated pancreatic duct.

What happened?

Temperature curve during the hospital stay, cultures (click to enlarge the images).

Blood Cx were taken. One of the 2 blood cx grew Candida.

An infectious disease (ID) consult was called, Diflucan was started and the PICC line was removed. The tip of the PICC line was cultured and grew Candida.

What is the one very important thing that you have to do when a patient is having fungemia?

Ophthalmoscopy because Candida can cause retinitis and blindness. Luckily, this patient had no retinitis.

What happened next?

Diflucan brought down the fever and he started eating although the abdominal pain persisted. He was sent for ERCP with a question regarding performing pancreatic stenting vs. pancreaticojejunostomy.

What else? Why does he have so many relatives with pancreatitis?

There is a rare condition called hereditary pancreatitis which affects multiple members of one family. Read more below.

What did we learn form this case?

Blood cultures are very important in the evaluation of any febrile illness. Treat fungemia immediately and perform an ophthalmoscopy. Remember that pancreatitis can be due to a rare genetic disorder called hereditary pancreatitis


Q & A about hereditary pancreatitis

What is hereditary pancreatitis?

This is an unusual form of pancreatitis with a familial predisposition. The gene mutations causing most cases of hereditary pancreatitis have been identified in the cationic trypsinogen gene. The known mutations are trypsinogen R117H and N211. These may predispose to acute pancreatitis by eliminating one of the fail-safe mechanisms used by the pancreas to eliminate prematurely activated trypsin. The first attack typically occurs within the first two decades of life. Source: Pubmed

What is the cause?

Currently, there are two common, and more than 6 uncommon cationic trypsinogen gene mutations that are associated with hereditary pancreatitis. The major mutations are known as cationic trypsinogen R122H and N29I. These are the two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene). Source: Univ of Cincinnati, Pubmed

How common is hereditary pancreatitis?

In the U.S., it is estimated that at least 1,000 individuals are affected with hereditary pancreatitis. Hereditary pancreatitis should always be considered in patients who present with recurrent pancreatitis with a family history of pancreatic disease. Source: Univ of Cincinnati

When to test a patient for hereditary pancreatitis?

Cationic trypsinogen (PRSS1) gene mutation analysis in a symptomatic patient:

Recurrent ( more than 2) attacks of acute pancreatitis for which there is no explanation
OR
Unexplained (idiopathic) chronic pancreatitis
OR
A family history of pancreatitis in a first-degree, or second-degree relative
OR
An unexplained episode of documented pancreatitis occurring in a child

Source: NGC

How many genes are involved?

Two. It has been found that mutations of cationic trypsinogen gene (PRSS1) and serine protease inhibitor, Kazal type 1 gene (SPINK1) increase the susceptibility of chronic pancreatitis. Source: Pubmed

References

Hereditary Pancreatitis Research - David C. Whitcomb, MD, PhD - 1, 2
Hereditary Pancreatitis Registery


Q & A - Pain of chronic pancreatitis

What is the reason for the pain of chronic pancreatitis?

The pathogenesis of pain in chronic pancreatitis remains an enigma. The cause of pain is almost certainly multifactorial and may vary at different stages of the disease process. These factors may include inflammatory infiltration with influx of pain transmittent substances into damaged nerve ends, and the development of pancreatic ductal and tissue fluid hypertension due to morphological changes of the pancreas. Source: Pubmed: 1, 2, Thomson Best Practice of Medicine

How to treat the pain of chronic pancreatitis?

A trial of high-dose Pancrease and Pepcid should precede the use of narcotics or any invasive treatment.

The evidence supporting the use of endoscopic therapy for pain in chronic pancreatitis is preliminary and largely confined to short-term observations. Although sphincterotomy, lithotripsy, and pancreatic duct stenting may hold promise, these procedures need further evaluation.

Although there have been no controlled trials comparing surgery with other treatments, experience indicates benefit in at least some patients. However, the failure rate of 20%-40% in even the most enthusiastic reports, as well as the potential for surgical morbidity and mortality, warrant reserving surgery for patients with severe pain not responsive to lesser tactics. Source: NGC

Guideline for treatment of pain in chronic pancreatitis - Gastroenterology 1998, UpToDate

Is surgery helpful?

This is not clear. There is no "gold standard" in the surgical management6/ of pancreatic pain. This is mainly due to the paucity of RCTs in the field of pancreatic surgery. With only 4 RCTs reported in the world literature it is difficult to state categorically what is the optimal treatment for this difficult group of patients. Source: Pubmed, UpToDate

References

Pancreatitis - JAMA Patient Page, 2012.

Published: 03/01/2004
Updated: 04/01/2012

6 comments:

  1. My son has suffer for 12 years with chronic stomach pain...he also has a 1st cousin who has suffer for 14 years with unexplained chronic pain....could this be the cause? I will have my son tested as soon as possible...

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  2. You should have him see a doctor rather than rely on information published on the web.

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  3. Iam a 36 year old male.. I went to the doctor about my chronic pancreatitis. The doctor wants to do a pancreatic prorocal ct scan. Does that mean he thinks i may have cancer?

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  4. Not necessarily. CT scan is a better imaging modality for the pancreas than ultrasound. It may show obstructions, etc. It's best to ask you doctor why you need the test, of course. There is a lot of radiation involved when a CT scan is involved.

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  5. Thank You.

    that eases my mind a little, but iam still scared to death.

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  6. I am currently taking Neurontin for chronic back pain but my doctor recently added Elavil as well to help sleep(in place of my Ole' faithful ativan).
    Since I've started taking it I've gotten a horrible pain in my right side that feels like liquid fire, along with a bloated looking tummy. My pain medication, lortab 10 barely takes the edge off of the pain. Before I started taking elavil a lortab 7.5 would help my back pain.
    I'm seeing my doctor tomorrow since I got a printout (from the pharmacist) to contact a dr if this rare but serious side effect occurs. Okay, so maybe I wouldn't have just contacted him over abdominal pain, it was the ENLARGED/PAINFUL BREASTS that sealed the nail in the coffin for me. OUCH!

    ReplyDelete