Rare Ophthalmology News
Advertisement
Disease Profile
Systemic mastocytosis
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.
1-5 / 10 000
Age of onset
All ages
ICD-10
C96.2
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)
Systemic mast cell disease; SMCD
Categories
Blood Diseases
Summary
Systemic mastocytosis (SM) is a form of mastocytosis in which mast cells accumulate in internal
Systemic mastocytosis can be divided into 4 main categories which are distinguished by various features:[4]
- Indolent systemic mastocytosis (ISM)
- Systemic mastocytosis with an associated hematologic nonmast cell lineage disorder (SM-AHNMD)
- Aggressive systemic mastocytosis (ASM)
- Mast cell leukemia (MCL)
Once a person is diagnosed, the category of SM must be determined, as treatment and
Symptoms
Anemia and bleeding disorders- Gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, and/or vomiting
- Itching, hives, and/or flushing of the skin
- Anaphylactoid reactions
- Enlarged liver (hepatomegaly), spleen (splenomegaly), and
lymph nodes (lymphadenopathy)
There are four main types of systemic mastocytosis which vary in severity. They include:[4]
- Indolent systemic mastocytosis the most common form of SM with a slowly progressive (worsening over time) clinical course
- Systemic mastocytosis with an associated hematologic nonmast cell lineage disorder a form of SM associated with other
blood disorders (such asmyeloproliferative or myelodysplastic conditions) - Aggressive systemic mastocytosis a severe form of SM usually characterized by organ impairment or organ failure due to aggressive mast cell infiltration
- Mast cell leukemia a very rare and aggressive form of SM that is associated with greater than 10% immature mast cells in the peripheral blood or greater than 20% immature mast cells in bone marrow cultures
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 |
| Abnormal eosinophil morphology | 0001879 | |
| Headache |
Headaches
|
0002315 |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Mastocytosis | 0100495 | |
| Nausea and vomiting | 0002017 | |
| Urticaria |
Hives
|
0001025 |
| 30%-79% of people have these symptoms | ||
| Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
| Generalized osteosclerosis | 0005789 | |
| Impaired temperature sensation |
Abnormality of temperature sensation
Loss of temperature sensation
[ more ] |
0010829 |
| Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
| 0000939 | ||
| Skin rash | 0000988 | |
|
Low platelet count
|
0001873 | |
| 5%-29% of people have these symptoms | ||
| Abnormality of the gastric mucosa |
Abnormality of the mucous membrane layer of stomach
|
0004295 |
| Acute leukemia | 0002488 | |
| Arthralgia |
Joint pain
|
0002829 |
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| Asthma | 0002099 | |
| Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
| Bone pain | 0002653 | |
| Chronic leukemia | 0005558 | |
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Portal |
0001409 | |
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Sudden cardiac death |
Premature sudden cardiac death
|
0001645 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Cutaneous mastocytosis | 0200151 | |
| Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
| Erythema | 0010783 | |
| Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
| Telangiectasia macularis eruptiva perstans | 0007583 | |
Cause
Diagnosis
- Bone marrow biopsy the most useful test used to diagnose the condition
- Blood studies may show
anemia , elevated histamine levels,thrombocytopenia , highwhite blood cell count (leukocytosis), low blood albumin levels (hypoalbuminemia), or high serum tryptase levels - Imaging studies may help to identify the extent and stage of the disease
Biopsies of affectedorgans (such as the liver and/or skin)Genetic testing
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
- Antihistamines to treat or prevent skin and gastrointestinal symptoms
- Proton pump inhibitors to treat increased stomach acid
- Epinephrine to treat anaphylaxis
- Steroids to treat malabsorption (impaired ability to take in nutrients)
- Mast
cell stabilizers such as ketotifen to treat some of the skin symptoms - Cromolyn sodium to treat gastrointestinal symptoms, bone pain, headaches, and some of the skin manifestations
If systemic mastocytosis is cancerous (mast cell leukemia) or associated with a
More specific information about treatment options can be accessed through the Treatment and Medication sections of the Medscape Reference website.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Midostaurin(Brand name: Rydapt) Manufactured by Novartis Oncology
FDA-approved indication: Treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematologicalneoplasm (SM-AHN), or mast cell leukemia (MCL).
National Library of Medicine Drug Information Portal
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
|
|---|
|
Differential diagnoses of SM include all the other causes of mast cell activation syndromes (MCAS): primary (clonal, but not fulfilling SM diagnostic criteria) MCAS; secondary MCAS where an IgE-dependent allergy (most cases) or another reactive inflammatory disease process is present (and is considered to be the causative etiology); and idiopathic MCAS where neither clonal MC nor an IgE-dependent allergy or another underlying condition/disease can be documented. As well, differential diagnoses include other forms of mastocytosis (cutaneous mastocytosis, mast cell sarcoma), endocrine disorders (adrenal tumors, VIPoma,, Zollinger-Ellison syndrome), some gastrointestinal pathologies, allergies, other myeloproliferative diseases that affect bone marrow, histiocytosis, hypereosinophilic syndrome and Waldenström macroglobulinemia.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
The Mast Cell Disease Society
P.O. Box 416
Sterling, MA 01564
E-mail: [email protected]
Website: https://tmsforacure.org/
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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.
- The Mast Cell Disease Society provides information about mast cell diseases, including Systemic mastocytosis.
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 Merck Manual for health care professionals provides information on Systemic mastocytosis.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Systemic mastocytosis. Click on the link to view a sample search on this topic.
References
- Bundra K and Akin C. Mastocytosis. National Organization for Rare Disorders. 2017; https://rarediseases.org/rare-diseases/mastocytosis/.
- Koyamangalath Krishnan. Systemic Mastocytosis. Medscape Reference. April 22, 2016; https://emedicine.medscape.com/article/203948-workup#showall.
- de Melo Campos P, Machado-Neto JA, Scopim-Ribeiro R, Visconte V, Tabarroki A, Duarte AS, Barra FF, Vassalo J, Rogers HJ, Lorand-Metze I, Tiu RV, Costa FF, Olalla Saad ST, and Traina F. Familial systemic mastocytosis with germline KIT K509I mutation is sensitive to treatment with imatinib, dasatinib and PKC412. Leuk Res. October 2014; 38(10):1245-1251. https://www.ncbi.nlm.nih.gov/pubmed/25139846.
- Mariana C Castells and Cem Akin. Systemic mastocytosis: Determining the category of disease. UpToDate. Waltham, MA: UpToDate; August, 2016;
- KIT. Genetics Home Reference. September 2014; https://ghr.nlm.nih.gov/gene/KIT.
- Castells MC and Akin C. Systemic mastocytosis: Treatment and prognosis. UpToDate. October 21 2016; https://www.uptodate.com/contents/systemic-mastocytosis-treatment-and-prognosis.
- Mastocytosis. National Institute of Allergy and Infectious Diseases (NIAID). October 2013; https://www.niaid.nih.gov/topics/mastocytosis/Pages/Treatment.aspx.
Rare Ophthalmology News