Rare Gastroenterology News

Disease Profile

Whipple disease

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.

Unknown

Age of onset

No data available

ICD-10

K90.8+ M14.8*

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)

Intestinal lipodystrophy; Intestinal lipophagic granulomatosis; Secondary Non-tropical Sprue;

Categories

Bacterial infections; Digestive Diseases; Nervous System Diseases

Summary

Whipple disease is an infectious bacterial disease that affects many different organ systems and interferes with the body's ability to process (metabolize) fats.[1] The disease usually occurs in the gastrointestinal system, but may affect any part of the body including the heart, lungs, brain, joints, and eyes.[2] In the gastrointestinal system, it interferes with the body's ability to absorb certain nutrients.[2][3] This leads to a condition known as malabsorption.[3] Whipple disease causes weight loss, incomplete breakdown of carbohydrates or fats, and problems with the immune system.[2] It is caused by infection from bacteria called Tropheryma whipplei.[2][3] When recognized and treated, Whipple disease can usually be cured. Untreated, the disease may be fatal.[2]

Symptoms

Symptoms of Whipple disease can vary from person to person and may affect many systems of the body. Some of the most common symptoms, occurring in the majority of people with Whipple disease, include:[4]

  • Weight loss.
  • Diarrhea.
  • Joint pain.

Other signs and symptoms may include:[1][2][4]

  • Neurological symptoms such as eye and facial muscle abnormalities, confusion, seizures, ataxia, memory loss, and vision impairment.
  • Fatigue.
  • Weakness.
  • Abdominal bleeding.
  • Abdominal pain.
  • Fever.
  • Loss of appetite.
  • Darkening of the skin
 

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
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Anorexia
0002039
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Cachexia
Wasting syndrome
0004326
Depressivity
Depression
0000716
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Diarrhea
Watery stool
0002014
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Malabsorption
Intestinal malabsorption
0002024
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Myoclonus
0001336
30%-79% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
Hypotension
Low blood pressure
0002615
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Pleuritis
Inflammation of tissues lining lungs and chest
0002102
Sleep disturbance
Difficulty sleeping
Trouble sleeping

[ more ]

0002360
Splenomegaly
Increased spleen size
0001744
Uveitis
0000554
5%-29% of people have these symptoms
Abnormal pyramidal sign
0007256
Anemia
Low number of red blood cells or hemoglobin
0001903
Ataxia
0001251
Chest pain
0100749
Cough
Coughing
0012735
Cranial nerve paralysis
0006824
Encephalitis
Brain inflammation
0002383
Erectile dysfunction
Abnormal erection
Erectile abnormalities

[ more ]

0100639
Galactorrhea
Spontaneous milk flow from breast
0100829
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Generalized hyperpigmentation
0007440
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hyponatremia
Low blood sodium levels
0002902
Hypothyroidism
Underactive thyroid
0000821
Increased intracranial pressure
Rise in pressure inside skull
0002516
Insulin resistance
Body fails to respond to insulin
0000855
Muscle weakness
Muscular weakness
0001324
Myocardial infarction
Heart attack
0001658
Myocarditis
Inflammation of heart muscle
0012819
Myositis
Muscle inflammation
0100614
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Pericarditis
Swelling or irritation of membrane around heart
0001701
Peripheral neuropathy
0009830
Polydipsia
Extreme thirst
0001959
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Respiratory insufficiency
Respiratory impairment
0002093
Seizure
0001250

Cause

Whipple disease is caused by infection from bacteria called Tropheryma whipplei (or Tropheryma whippelii).[2][3] It is not known how people become infected with the bacteria, but there is no evidence of human to human transmission.[5]

It seems that these bacteria are common in soil or water, and many reports of disease occur in patients who work in trades where they have frequent contact with soil such as agriculture and construction. The bacteria may also be part of the normal flora of the body.[5] One study revealed its presence in saliva in 35% of a sample of 40 healthy patients.[4] These findings, and the fact that Whipple disease is more common in people who have an antigen known as HLA-B27 suggest that there may be a genetic predisposition (susceptibility) in those people with the disease, resulting in an abnormal host response to a microorganism that occurs frequently in humans.[4][5] In addition, most, if not all patients, have an immune defect which make it harder to fight infections.[5] 

 

Treatment

The standard treatment for Whipple disease is a prolonged course of antibiotics to destroy the bacteria that cause the disease.[1][2][3] A number of different types, doses, and schedules of antibiotics may be used in an effort to find the best treatment.[2]

A medicine called 
ceftriaxone 2g, or penicillin G are commonly given intravenously as a first option. These antibiotics are typically followed by another antibiotic (such as trimethoprim-sulfamethoxazole) taken by mouth for up to 1 year. If symptoms come back during antibiotic use, the antibiotic treatment may be changed.[3]

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.[2] 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.[2][3]

People who are being treated for Whipple disease should be closely monitored by a health care provider because signs of the disease can return after therapy has been finished.[3] 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.[2]

In general, surgery is not needed, however, neurosurgical care is important for both obtaining diagnostic biopsy specimens in selected patients and placement of ventriculoperitoneal shunting in patients with hydrocephalus.[6]

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

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 Whipple disease. Click on the link to view a sample search on this topic.

References

  1. Whipple's Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Whipples-Disease-Information-Page. Accessed 6/5/2017.
  2. Whipple Disease. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). August 2014; https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/whipple-disease/Pages/facts.aspx.
  3. Whipple's disease. MedlinePlus. 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000209.htm.
  4. Roberts IM. Whipple Disease. Medscape Reference. December 30, 2017; https://emedicine.medscape.com/article/183350-overview#a7.
  5. Tropheryma whipelii. Department of Microbiology. Mount Sinai Hospital. https://eportal.mountsinai.ca/Microbiology//bug/TW/tw-bug.shtml.
  6. Bobustuc GC. CNS Whipple Disease Treatment & Management. Medscape Reference. December 2014; https://emedicine.medscape.com/article/1166639-treatment.

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