v Whipple’s Disease

Whipple’s disease is a rare infectious disease that typically infects the bowel. It causes malabsorption primarily but may affect any part of the body including the heart, lungs, brain, joints, and eyes. It interferes with the body’s ability to absorb certain nutrients. Whipple’s disease causes weight loss, incomplete breakdown of carbohydrates or fats, and malfunctions of the immune system. When recognized and treated, Whipple’s disease can usually be cured. Untreated, the disease may be fatal.

Whipple’s disease is caused by bacteria named Tropheryma whippelii. It can affect any system of the body, but occurs most often in the small intestine. Lesions appear on the wall of the small intestine and thicken the tissue. The villi—tiny, finger-like protrusions from the wall that help absorb nutrients—are damaged.
Symptoms include diarrhea, intestinal bleeding, abdominal pain, loss of appetite, weight loss, fatigue, and weakness. Arthritis and fever often occur several years before intestinal symptoms develop. Patients may experience neurological symptoms as well. Diagnosis is based on symptoms and the results of a biopsy of tissue from the small intestine or other organs that are affected.

Whipple’s disease is treated with antibiotics to destroy the bacteria that cause the disease. The physician may use a number of different types, doses, and schedules of antibiotics to find the best treatment. Depending on the seriousness of the disease, treatment may also include fluid and electrolyte replacement. Electrolytes are salts and other substances in body fluid that the heart and brain need to function properly. Extra iron, folate, vitamin D, calcium, and magnesium may also be given to help compensate for the vitamins and minerals the body cannot absorb on its own.

Full recovery of the small intestine may take up to 2 years, but the symptoms usually disappear in less time. Because relapse is common even after successful treatment, the health care team may continue to monitor the patient for many years.

v Zollinger-Ellison Syndrome

Zollinger-Ellison syndrome (ZES) is a rare disorder that causes tumors in the pancreas and duodenum and ulcers in the stomach and duodenum. The pancreas is a gland located behind the stomach. It produces enzymes that break down fat, protein, and carbohydrates from food, and hormones like insulin that break down sugar. The duodenum is the first part of the small intestine.

The tumors secrete a hormone called gastrin that causes the stomach to produce too much acid, which in turn causes stomach and duodenal ulcers (peptic ulcers). The ulcers caused by ZES are less responsive to treatment than ordinary peptic ulcers. What causes people with ZES to develop tumors is unknown, but approximately 25 percent of ZES cases are associated with a genetic disorder called multiple endocrine neoplasia type 1, which is associated with additional disorders.
The symptoms of ZES include signs of peptic ulcers: gnawing, burning pain in the abdomen; diarrhea; nausea; vomiting; fatigue; weakness; weight loss; and bleeding. Physicians diagnose ZES through blood tests to measure levels of gastrin and gastric acid secretion. They may check for ulcers by doing an endoscopy, which involves looking at the lining of the stomach and duodenum through a lighted tube.

The primary treatment for ZES is medication to reduce the production of stomach acid. Proton pump inhibitors that suppress acid production and promote healing are the first line of treatment and include lansoprazole, omeprazole, pantoprazole, and rabeprazole. H-2 blockers such as cimetidine, famotidine, and ranitidine may also be used, but are less effective in reducing stomach acid. Surgery to treat peptic ulcers or to remove tumors in the pancreas or duodenum are other treatment options. People who have been treated for ZES should be monitored in case the ulcers or tumors recur.

v Porphyria

Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are in the blood and bone marrow, where it carries oxygen. Heme is also found in the liver and other tissues.
Multiple enzymes are needed for the body to produce heme. If any one of the enzymes is abnormal, the process cannot continue and the intermediate products, porphyrin or its precursors, may build up and be excreted in the urine and stool.

The porphyria disorders can be grouped by symptoms—whether they affect the skin or the nervous system. The cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently.

The porphyrias are inherited conditions, and the genes for all enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting an abnormal gene from one parent (autosomal dominant). Other forms are from inheriting an abnormal gene from each parent (autosomal recessive). The risk that individuals in an affected family will have the disease or transmit it to their children is quite different depending on the type.

Attacks of porphyria can develop over hours or days and last for days or weeks. Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.

Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.

v Ménétrier’s Disease

Ménétrier’s disease causes giant folds of tissue to grow in the wall of the stomach. The tissue may be inflamed and may contain ulcers. The disease also causes glands in the stomach to waste away and causes the body to lose fluid containing a protein called albumin. Ménétrier’s disease increases a person’s risk of stomach cancer. People who have this rare, chronic disease are usually men between ages 30 and 60. The cause of the disease is unknown.
Ménétrier’s disease is also called giant hypertrophic gastritis, protein losing gasteropathy, or hypertrophic gastropathy.

Symptoms

Symptoms include pain or discomfort and tenderness in the top middle part of the abdomen, loss of appetite, nausea, vomiting, diarrhea, vomiting blood, swelling in the abdomen, and ulcer-like pain after eating.

Diagnosis

Ménétrier’s disease is diagnosed through x rays, endoscopy, and biopsy of stomach tissue. Endoscopy involves looking at the inside of the stomach using a long, lighted tube that is inserted through the mouth. Biopsy involves removing a tiny piece of stomach tissue to examine under the microscope for signs of disease.

Treatment

Treatment may include medications to relieve ulcer symptoms and treat inflammation, and a high-protein diet. Part or all of the stomach may need to be removed if the disease is severe.

v Portal Hypertension

Portal hypertension is an increase in the pressure within the portal vein (the vein that carries blood from the digestive organs to the liver). The increase in pressure is caused by a blockage in the blood flow through the liver.

Increased pressure in the portal vein causes large veins (varices) to develop across the esophagus and stomach to bypass the blockage. The varices become fragile and can bleed easily.

What causes portal hypertension?

The most common cause of portal hypertension is cirrhosis, or scarring of the liver. Cirrhosis results from the healing of a liver injury caused by hepatitis, alcohol abuse or other causes of liver damage. In cirrhosis, the scar tissue blocks the flow of blood through the liver and slows its processing functions.
Portal hypertension may also be caused by thrombosis, or clotting in the portal vein.

What are the symptoms of portal hypertension?

The onset of portal hypertension may not always be associated with specific symptoms that identify what is happening in the liver. But if you have liver disease that leads to cirrhosis, the chance of developing portal hypertension is high.

The main symptoms and complications of portal hypertension include:

How is portal hypertension diagnosed?

Endoscopic examination, X-ray studies, and lab tests can confirm that you have variceal bleeding. Further treatment is necessary to reduce the risk of rebleeding.

What are the treatment options for portal hypertension?

The effects of portal hypertension can be managed through diet, medications, endoscopic therapy, surgery or radiology. Once the bleeding episode has been stabilized, treatment options are prescribed based on the severity of the symptoms and on how well your liver is functioning.

First Level of Treatment

When you are first diagnosed with variceal bleeding, you may be treated with endoscopic therapy or medications. Dietary and lifestyle changes are also important.
Endoscopic therapy consists of either sclerotherapy or banding. Sclerotherapy is a procedure performed by a gastroenterologist in which a solution is injected into the bleeding varices to stop or control the risk of bleeding. Banding is a procedure in which a gastroenterologist uses rubber bands to block the blood supply to each varix.
Medications such as beta blockers or nitrates may be prescribed alone or in combination with endoscopic therapy to reduce the pressure in your varices and further reduce the risk of rebleeding.

Medications such as propranolol and isosorbide may be prescribed to lower the pressure in the portal vein and reduce the risk of rebleeding.
The drug lactulose can help treat confusion and other mental changes associated with encephalopathy.

Dietary and Lifestyle Changes

Maintaining good nutritional habits and keeping a healthy lifestyle will help your liver function properly. Some of the things you can do to improve the function of your liver include the following:

Second Level of Treatment

If the first level of treatment does not successfully control your variceal bleeding, you may require one of the following decompression procedures to reduce the pressure in these veins.

What tests are required before the TIPS and DSRS procedures?

Before receiving either of these procedures, you will have the following tests to determine the extent and severity of your portal hypertension:

Before either the TIPS or DSRS procedure, your physician may ask you to have other preoperative tests, which may include an electrocardiogram (also called an EKG), chest X-ray or additional blood tests. If your physician thinks you will need additional blood products (such as plasma), they will be ordered at this time.

More About the TIPS Procedure

During the TIPS procedure, a radiologist makes a tunnel through the liver with a needle, connecting the portal vein (the vein that carries blood from the digestive organs to the liver) to one of the hepatic veins (the three veins that carry blood from the liver). A metal stent is placed in this tunnel to keep the tunnel open.
The TIPS procedure reroutes blood flow in the liver and reduces pressure in all abnormal veins, not only in the stomach and esophagus, but also in the bowel and the liver.

The TIPS procedure is not a surgical procedure. The radiologist performs the procedure within the vessels under X-ray guidance. The procedure lasts 1 to 3 hours. You should expect to stay in the hospital 2 to 3 days after the procedure.
The TIPS procedure controls bleeding immediately in over 90 percent of patients. However, in about 20 percent of patients, the shunt may narrow, causing varices to rebleed at a later time.

Potential Complications of the TIPS Procedure

Shunt narrowing or occlusion (blockage) can occur within the first year after the procedure. Follow-up ultrasound examinations are performed frequently after the TIPS procedure to detect these complications. The signs of occlusion include increased ascites or rebleeding. This condition can be treated by a radiologist who re-expands the shunt with a balloon or repeats the procedure to place a new stent.

Encephalopathy, or mental changes caused by abnormal functioning of the brain that occur with severe liver disease. Encephalopathy can be worse when blood flow to the liver is reduced by TIPS, which may result in toxic substances reaching the brain without being metabolized first by the liver. This condition can be treated with medications, diet or by replacing the shunt.

More About the DSRS Procedure

The DSRS is a surgical procedure. During the surgery, the vein from the spleen (called the splenic vein) is detached from the portal vein and attached to the left kidney (renal) vein. This surgery selectively reduces the pressure in your varices and controls the bleeding.

A general anesthetic is given to you before the surgery. The surgery lasts about about 4 hours. You should expect to stay in the hospital from 7 to 10 days.
DSRS controls bleeding in over 90 percent of patients, with the highest risk of any rebleeding in the first month. However, the DSRS procedure provides good long-term control of bleeding.

Potential complication of the DSRS surgery: Ascites, an accumulation of fluid in the abdomen. This can be treated with diuretics and restricted sodium intake.

Follow-up Care After the TIPS or DSRS Procedures

Follow-up medical care at other hospitals may be different than this follow-up care provided at the Cleveland Clinic for both procedures:

If the shunt is working well, every 6 months after the first year of follow-up appointments you will have an ultrasound, lab work and you will visit with your physician and nurse coordinator.

More frequent follow-up visits may be necessary, depending on your condition.
Attend all follow-up appointments as scheduled to ensure that the shunt is functioning properly. Be sure to follow the dietary recommendations that your health care providers give you.

Other treatment procedures

Reprinted with permission.
@The Cleveland Clinic 2004
www.clevelandclinic.org