Rare Cardiology News
Advertisement
Disease Profile
Whipple disease
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
Symptoms
- 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 |
Joint inflammation
|
0001369 | |
Cachexia |
Wasting syndrome
|
0004326 |
Depressivity |
Depression
|
0000716 |
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 | |
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 | |
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 |
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
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
Treatment
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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnosis includes inflammatory bowel disease, malabsorption syndrome, infectious diarrhea, mesenteric lymphadenitis, seronegative polyarthritis, soft tissue rheumatism, culture-negative endocarditis, vasculitis, lymphoma, cerebrovascular disease, demential processes, HIV infection, atypical mycobacteriosis, sarcoidosis, unclear cutaneous symptoms, exophthalmos and many others.
Visit the Orphanet disease page for more information.
|
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.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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
- 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.
- 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.
- Whipple's disease. MedlinePlus. 2016; https://www.nlm.nih.gov/medlineplus/ency/article/000209.htm.
- Roberts IM. Whipple Disease. Medscape Reference. December 30, 2017; https://emedicine.medscape.com/article/183350-overview#a7.
- Tropheryma whipelii. Department of Microbiology. Mount Sinai Hospital. https://eportal.mountsinai.ca/Microbiology//bug/TW/tw-bug.shtml.
- Bobustuc GC. CNS Whipple Disease Treatment & Management. Medscape Reference. December 2014; https://emedicine.medscape.com/article/1166639-treatment.
Rare Cardiology News