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  3. Dehydrated hereditary stomatocytosis
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Dehydrated hereditary stomatocytosis


Title




Other Names:
Desiccytosis hereditary; Xerocytosis hereditary; Hereditary xerocytosis
Categories:
Blood Diseases; Congenital and Genetic Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 3202

Definition
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed.

Epidemiology
The prevalence of DHS is unknown but to date, about 20 families with DHS have been described in the literature.

Clinical description
The clinical presentation of the disease is very heterogeneous. Onset of DHS may occur during the perinatal period with occurrence of edema and ascites (most often not related to an underlying anemia) that usually resolve spontaneously during the first weeks of life but may rarely lead to hydrops fetalis (see this term). Most adult patients present a mild anemia or a totally compensated hemolysis, with fatigue, icterus, splenomegaly and risks of secondary complications including cholelithiasis. Patients can also be referred for unexplained hemochromatosis, since iron overload is frequently associated with the disease. Thrombotic complications (arterial and venous events, including portal vein thrombosis (see this term) and pulmonary hypertension) have been described at a high rate after splenectomy.

Etiology
Most reported DHS cases are caused by gain-of-function mutations in the gene PIEZO1 (16q24.3) which encodes part of a mechanosensitive ion channel. This results in increased red cell membrane permeability for cations that consequently leads to cation depletion, dehydration and shortened red cell survival. Rare atypical forms have been associated with mutations in SLC4A1 (17q21.31), coding for the Band 3 anion transport protein, or KCNN4 (19q13.2) which codes for the putative Gardos channel.

Diagnostic methods
Diagnosis relies on laboratory findings. The typical presentation includes normal hemoglobin level or mild anemia, normal mean cell volume (MCV) or mild macrocytosis, normal or elevated mean corpuscular hemoglobin concentration (MCHC), elevated reticulocytosis, and a small number of stomatocytes (<10% of red cells). A diagnosis of DHS must be evoked in patients with unexplained iron overload, even if hemoglobin levels are normal, as well as in patients with unexplained hemolysis (before splenectomy) or those presenting with thrombotic events, if already splenectomized. Osmolar gradient ektacytometry is the best phenotypic diagnosis method, showing a leftward shift of the bell-shaped curve with a normal maximum deformability index and a decreased hypo and hyper-osmotic point, reflecting decreased osmotic fragility and cell dehydration, respectively. In some cases, an increased serum potassium level is observed, which results from in vitro leakage and is clinically irrelevant. Measurement of ferritin level and liver magnetic resonance imaging (MRI) are performed to evaluate iron overload. Genetic screening of the causative genes can be performed after phenotypic investigations.

Differential diagnosis
Differential diagnoses include other causes of hemolysis, including hereditary spherocytosis, overhydrated hereditary stomatocytosis, hemoglobinopathy or red cell enzyme deficiencies such as hemolytic anemia due to red cell pyruvate kinase deficiency (see these terms).

Genetic counseling
Transmission is autosomal dominant and genetic counseling should be offered to affected families.

Management and treatment
Treatment is mainly symptomatic. Occurrence of cholelithiasis should be regularly monitored. Folic acid supplementation should be proposed in case of anemia. Pregnancy should be closely monitored. Iron status should be regularly monitored by serum ferritinemia and liver MRI. Iron depletion, most often by phlebotomy, is proposed when ferritinemia reaches the threshold of 1000 ng/ml or when iron liver overload is present. Splenectomy is contraindicated in DHS due to an elevated risk of life threatening arterial and venous thrombotic events.

Prognosis
Overall prognosis is favorable in well managed patients (not splenectomized and with regular monitoring of their iron status). Splenectomized patients are at risk of early or late thrombotic events.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2015

Symptoms Symptoms


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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.

Showing of 38 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Increased red cell osmotic fragility 0005502
Nonspherocytic hemolytic anemia 0001930
30%-79% of people have these symptoms
Abnormal blood potassium concentration 0011042
Cholelithiasis
Gallstones
0001081
Increased lactate dehydrogenase level 0025435
Increased serum ferritin
High ferritin level
Elevated serum ferritin
Increased serum ferritin level
Increased ferritin
[ more ]
0003281
Increased total bilirubin
High bili total
0003573
Macrocytic anemia 0001972
Schistocytosis 0001981
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Congenital hemolytic anemia 0004804
Edema
Fluid retention
Water retention
[ more ]
0000969
Episodic fatigue 0012431
Hemoglobinuria
Hemoglobin in urine
0003641
Hepatitis
Liver inflammation
0012115
Hepatomegaly
Enlarged liver
0002240
Increased hemoglobin concentration 0020063
Increased mean corpuscular volume 0005518
Intermittent jaundice
Intermittent yellow skin
Intermittent yellowing of skin
[ more ]
0001046
Jaundice
Yellow skin
Yellowing of the skin
[ more ]
0000952
Neonatal hyperbilirubinemia 0003265
Pallor 0000980
Thromboembolism 0001907
1%-4% of people have these symptoms
Conjunctival icterus
Yellowing of the whites of the eyes
0032106
Polycythemia
Increased red blood cells
0001901
Portal vein thrombosis
Blood clot in portal vein
0030242
Pulmonary venous hypertension 0030950
Percent of people who have these symptoms is not available through HPO
Acanthocytosis 0001927
Anisopoikilocytosis 0004823
Autosomal dominant inheritance 0000006
Bite cells 0020122
Exercise-induced hemolysis 0005535
Hemolytic anemia 0001878
Hyperbilirubinemia
High blood bilirubin levels
0002904
Increased mean corpuscular hemoglobin concentration 0025548
Increased red cell hemolysis by shear stress 0008269
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells
[ more ]
0001923
Showing of 38 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More Learn More


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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.

In-Depth Information

  • 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. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • 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 Dehydrated hereditary stomatocytosis. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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