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Erythrocytosis, familial, 2(ECYT2)

MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
Synonyms: ECYT2; ERYTHROCYTOSIS, AUTOSOMAL RECESSIVE BENIGN; POLYCYTHEMIA, CHUVASH TYPE; POLYCYTHEMIA, VHL-DEPENDENT
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): VHL (3p25.3)
OMIM®: 263400
Orphanet: ORPHA238557

Definition

Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). [from OMIM]

Additional description

From GHR
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes). The primary function of these cells is to carry oxygen from the lungs to tissues and organs throughout the body. Signs and symptoms of familial erythrocytosis can include headaches, dizziness, nosebleeds, and shortness of breath. The excess red blood cells also increase the risk of developing abnormal blood clots that can block the flow of blood through arteries and veins. If these clots restrict blood flow to essential organs and tissues (particularly the heart, lungs, or brain), they can cause life-threatening complications such as a heart attack or stroke. However, many people with familial erythrocytosis experience only mild signs and symptoms or never have any problems related to their extra red blood cells.  https://ghr.nlm.nih.gov/condition/familial-erythrocytosis

Clinical features

Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it. Fatigue itself is not a disease. Medical problems, treatments, and personal habits can add to fatigue. These include. -Taking certain medicines, such as antidepressants, antihistamines, and medicines for nausea and pain. -Having medical treatments, like chemotherapy and radiation. -Recovering from major surgery. -Anxiety, stress, or depression. -Staying up too late. -Drinking too much alcohol or too many caffeinated drinks. -Pregnancy. One disorder that causes extreme fatigue is chronic fatigue syndrome (CFS). This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities. NIH: National Institute on Aging.
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Hemangioma
MedGen UID:
5477
Concept ID:
C0018916
Neoplastic Process
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Hypotension
MedGen UID:
5715
Concept ID:
C0020649
Finding
You've probably heard that high blood pressure is a problem. Sometimes blood pressure that is too low can also cause problems. Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. Your blood pressure reading uses these two numbers. Usually they're written one above or before the other, such as 120/80. If your blood pressure reading is 90/60 or lower, you have low blood pressure. . Some people have low blood pressure all the time. They have no symptoms and their low readings are normal for them. In other people, blood pressure drops below normal because of a medical condition or certain medicines. Some people may have symptoms of low blood pressure when standing up too quickly. Low blood pressure is a problem only if it causes dizziness, fainting or in extreme cases, shock. . NIH: National Heart, Lung, and Blood Institute.
Stroke
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.
Varicose veins
MedGen UID:
21827
Concept ID:
C0042345
Disease or Syndrome
Varicose veins are swollen, twisted veins that you can see just under the skin. They usually occur in the legs, but also can form in other parts of the body. Hemorrhoids are a type of varicose vein. Your veins have one-way valves that help keep blood flowing toward your heart. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell, which can lead to varicose veins. Varicose veins are very common. You are more at risk if you are older, a female, obese, don't exercise or have a family history. They can also be more common in pregnancy. Doctors often diagnose varicose veins from a physical exam. Sometimes you may need additional tests. Exercising, losing weight, elevating your legs when resting, and not crossing them when sitting can help keep varicose veins from getting worse. Wearing loose clothing and avoiding long periods of standing can also help. If varicose veins are painful or you don't like the way they look, your doctor may recommend procedures to remove them. NIH: National Heart, Lung, and Blood Institute.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Hemorrhagic stroke is the less common type. It happens when a blood vessel breaks and bleeds into the brain. Within minutes, brain cells begin to die. Causes include a bleeding aneurysm, an arteriovenous malformation (AVM), or an artery wall that breaks open. Symptoms of stroke are. -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. It is important to treat strokes as quickly as possible. With a hemorrhagic stroke, the first steps are to find the cause of bleeding in the brain and then control it. Surgery may be needed. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. National Institute of Neurological Disorders and Stroke.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor. The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol. Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers. Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear. NIH: National Institute of Neurological Disorders and Stroke.
Stroke
MedGen UID:
52522
Concept ID:
C0038454
Disease or Syndrome
A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. Mini-strokes or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted. Symptoms of stroke are . -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke. . NIH: National Institute of Neurological Disorders and Stroke.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Hemorrhagic stroke is the less common type. It happens when a blood vessel breaks and bleeds into the brain. Within minutes, brain cells begin to die. Causes include a bleeding aneurysm, an arteriovenous malformation (AVM), or an artery wall that breaks open. Symptoms of stroke are. -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. It is important to treat strokes as quickly as possible. With a hemorrhagic stroke, the first steps are to find the cause of bleeding in the brain and then control it. Surgery may be needed. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. National Institute of Neurological Disorders and Stroke.
Increased hematocrit
MedGen UID:
68692
Concept ID:
C0239935
Finding
An increase in the volume of packed erythrocytes in a blood specimen.
Increased hemoglobin
MedGen UID:
108199
Concept ID:
C0549448
Finding
A laboratory test result which indicates increased levels of hemoglobin in a biological specimen.
Cerebral hemorrhage
MedGen UID:
108210
Concept ID:
C0553692
Pathologic Function
A stroke is a medical emergency. There are two types - ischemic and hemorrhagic. Hemorrhagic stroke is the less common type. It happens when a blood vessel breaks and bleeds into the brain. Within minutes, brain cells begin to die. Causes include a bleeding aneurysm, an arteriovenous malformation (AVM), or an artery wall that breaks open. Symptoms of stroke are. -Sudden numbness or weakness of the face, arm or leg (especially on one side of the body). -Sudden confusion, trouble speaking or understanding speech. -Sudden trouble seeing in one or both eyes. -Sudden trouble walking, dizziness, loss of balance or coordination. -Sudden severe headache with no known cause. It is important to treat strokes as quickly as possible. With a hemorrhagic stroke, the first steps are to find the cause of bleeding in the brain and then control it. Surgery may be needed. Post-stroke rehabilitation can help people overcome disabilities caused by stroke damage. National Institute of Neurological Disorders and Stroke.
Peripheral thrombosis
MedGen UID:
337901
Concept ID:
C1849749
Pathologic Function
Increased red blood cell mass
MedGen UID:
377869
Concept ID:
C1853288
Finding
The presence of an increased mass of red blood cells in the circulation.
Plethora
MedGen UID:
115911
Concept ID:
C0232370
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Erythrocytosis, familial, 2 in Orphanet.

Professional guidelines

PubMed

Hussein K, Percy M, McMullin MF
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 25 doi: 10.1038/ejhg.2011.252. PMID: 22274579Free PMC Article

Recent clinical studies

Therapy

Zhang X, Zhang W, Ma SF, Miasniakova G, Sergueeva A, Ammosova T, Xu M, Nekhai S, Nourai M, Wade MS, Prchal JT, Garcia JG, Machado RF, Gordeuk VR
Blood Cells Mol Dis 2014 Jan;52(1):35-45. Epub 2013 Aug 28 doi: 10.1016/j.bcmd.2013.07.016. PMID: 23993337Free PMC Article

Clinical prediction guides

Zhang X, Zhang W, Ma SF, Miasniakova G, Sergueeva A, Ammosova T, Xu M, Nekhai S, Nourai M, Wade MS, Prchal JT, Garcia JG, Machado RF, Gordeuk VR
Blood Cells Mol Dis 2014 Jan;52(1):35-45. Epub 2013 Aug 28 doi: 10.1016/j.bcmd.2013.07.016. PMID: 23993337Free PMC Article

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