Presentation
Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in the blood [7].
Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing.
Arrhythmia is another common presentation of aplastic anemia. In some cases, this may lead to an enlarged heart or heart failure.
Fevers, flu-like symptoms and persistent infections are also common and this is as a result of neutropenia.
Easy and prolonged bleeding also shows a reduction in platelets in the body. Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding.
Skin rashes and nausea are other common symptoms.
Entire Body System
- Anemia
Synonyms of Acquired Aplastic Anemia idiopathic aplastic anemia immune aplastic anemia General Discussion Summary Acquired aplastic anemia is a rare, serious blood disorder, due to failure of the bone marrow failure to produce blood cells. [rarediseases.org]
Aplastic anemia involves all different cell lines. Viruses that have been linked to the development of aplastic anemia include hepatitis, Epstein-Barr, cytomegalovirus, parvovirus B19 and HIV. In some animals, aplastic anemia may have other causes. [en.wikipedia.org]
This is an isolated aplastic anemia. [emedicine.medscape.com]
Deficiency of CD34 + c-kit + and CD34 + 38- hematopoietic precursors in aplastic anemia after immunosuppressive treatment. Am J Hematol. 1996;52(4):264–74. [springermedizin.at]
- Fatigue
Low red cell count (anemia) can cause: Fatigue Pallor (paleness) Rapid heart rate Shortness of breath with exercise Weakness Lightheadedness upon standing Low white cell count (leukopenia) causes an increased risk for infection. [nlm.nih.gov]
Fatigue is the most common presentation as it is the first symptom of low red blood cell count. Fatigue also sets in when there is a lack of hemoglobin in the blood. [symptoma.com]
Helping your child live with aplastic anemia During and between treatments, it’s important to prevent complications of aplastic anemia caused by infections, bleeding, or fatigue. This is especially important when blood cell counts are low. [stanfordchildrens.org]
The more common adverse effects associated with these agents include fatigue, rash, myalgia, pyrexia, and cough, but less common yet serious adverse effects have included immune-mediated colitis, pneumonitis, hepatitis, type 1 diabetes, and encephalitis [ncbi.nlm.nih.gov]
- Fever
Anti-malarial treatment was initiated following which the fever subsided but, despite regular transfusions, the blood counts remained low. [ncbi.nlm.nih.gov]
They developed high fever and pancytopenia. Hemophagocytes were seen in the bone marrow. With steroid (in combination with etoposide and CyA in 1 patient), high fever disappeared and the patients' liver function gradually recovered. [go.gale.com]
When a fever develops, it is recommended that a blood culture be obtained and that they receive parenteral antibiotics active against gram-positive and gram-negative bacteria for at least 48 hours or until the fever ends and the blood cultures are negative [med.uth.edu]
- Weakness
Herein we report a patient with celiac disease who was not strictly following a gluten-free diet and presented with progressive pallor, fever, and weakness of 1 month's duration. [ncbi.nlm.nih.gov]
Common symptoms are weakness, fatigue, paleness, infections and easy bruising. How Is Aplastic Anemia Diagnosed? Diagnosis is made by sampling the bone marrow (bone marrow aspiration and biopsy). [illinoiscancercare.com]
In aplastic anemia, anemia may cause weakness and easy fatigability while severe thrombocytopenia may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues. [merckmanuals.com]
Bruising; • Petechiae (non-raised hemorrhage in the skin or in a membrane); • Bleeding gums; • Bleeding of internal organs; • Frequent or severe infections; • Nosebleeds; • Rapid heart rate; • Rash; • Shortness of breath during physical activity; and • Weakness [secure.ssa.gov]
- Pain
— Nina Dos Santos, CNN, "Why this 7-year-old can't go anywhere near unvaccinated children," 26 June 2019 Knee pain and the bottom line Health insurance typically doesn’t cover stem cell injections, with the exception of certain accepted treatments, [merriam-webster.com]
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A 17-year-old girl with aplastic anemia presented to the emergency ward with complaints of severe abdominal pain for the last 24h. On examination, she was noted to be pale with circulatory compromise. [ncbi.nlm.nih.gov]
Hematological
- Easy Bruising
Platelets are responsible for normal blood clotting and low numbers can result in easy bruising and bleeding which can be deadly. [clinicaltrials.gov]
Common symptoms are weakness, fatigue, paleness, infections and easy bruising. How Is Aplastic Anemia Diagnosed? Diagnosis is made by sampling the bone marrow (bone marrow aspiration and biopsy). [illinoiscancercare.com]
Some symptoms include tiredness, paleness, frequent infections and easy bruising and bleeding. Aplastic anemia is diagnosed with blood and bone marrow tests. Treatment depends on the cause. [childrensnational.org]
Some symptoms include tiredness, paleness, frequent infections, and easy bruising and bleeding. Aplastic anemia is diagnosed with blood and bone marrow tests. Treatment depends on the cause. [stlouischildrens.org]
Symptoms include: Bleeding gums Easy bruising Nose bleeds Rash, small pinpoint red marks on the skin (petechiae) Frequent or severe infections (less common) Mild cases of aplastic anemia that do not have symptoms may not require treatment. [nlm.nih.gov]
Respiratoric
- Dyspnea
Call your primary care physician if you are concerned about any of the following: Fatigue Dizziness Shortness of breath (dyspnea) Cold hands and feet Pale skin Headache Irregular heartbeat Frequent infections Fever and flu-like symptoms Bruising easily [rush.edu]
Other common symptoms of aplastic anemia are chest pain, pale skin, excessively cold extremities, headaches, dyspnea and dizziness shortly after standing. Arrhythmia is another common presentation of aplastic anemia. [symptoma.com]
Aplastic anemia may present with the following signs and symptoms: Fatigue Dyspnea on exertion Easy bruising and bleeding (for example, epistaxis, gum bleeding, heavy menses, subconjunctival hemorrhages, melena, etcetera.) [cancertherapyadvisor.com]
Signs and symptoms of aplastic anemia may include the following: Pallor Headache Palpitations, dyspnea Fatigue Foot swelling Gingival bleeding, petechial rashes Overt and/or recurrent infections Oropharyngeal ulcerations A subset of patients with aplastic [emedicine.medscape.com]
Gastrointestinal
- Loss of Appetite
Have a loss of appetite or lose weight. Have paler-than-normal skin. Have trouble breathing. Have rapid heartbeat. Have reduced ability to exercise or climb stairs. Low White Blood Cell Count A low white blood cell count is called neutropenia. [aamds.org]
Cardiovascular
- Tachycardia
May present with sequelae of neutropenia (infections), anaemia (fatigue, pallor, dyspnoea, tachycardia), or thrombocytopenia (bleeding, bruising). Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia. [bestpractice.bmj.com]
Physical findings may help alert us to the presence of aplastic anemia: Pallor, petechiae Tachycardia, hepatomegaly, systolic flow murmur Physical findings can also highlight possible inherited condition: Ex, dystrophic nails, oral leukoplakia, and reticular [pedemmorsels.com]
Jaw & Teeth
- Bleeding Gums
Physical findings : • Anemia with fatigue and pallor; • Bruising; • Petechiae (non-raised hemorrhage in the skin or in a membrane); • Bleeding gums; • Bleeding of internal organs; • Frequent or severe infections; • Nosebleeds; • Rapid heart rate; • Rash [secure.ssa.gov]
Symptoms include: Bleeding gums Easy bruising Nose bleeds Rash, small pinpoint red marks on the skin (petechiae) Frequent or severe infections (less common) Mild cases of aplastic anemia that do not have symptoms may not require treatment. [nlm.nih.gov]
Other symptoms include: Easy, unexplained bruising Fever Nosebleeds and bleeding gums Pale skin Prolonged bleeding from cuts Rapid heart rate Shortness of breath with exertion Skin rash Weakness Diagnosis Aplastic anemia is diagnosed with blood tests [seattlecca.org]
Skin
- Petechiae
In aplastic anemia, anemia may cause weakness and easy fatigability while severe thrombocytopenia may cause petechiae, ecchymosis, and bleeding from the gums, into the conjunctivae, or other tissues. [merckmanuals.com]
We report a case of 6-year-old South Asian girl presenting with bruises, petechiae, and recent history of loose stools. [ncbi.nlm.nih.gov]
- Purpura
Physical examination may reveal signs of pallor, purpura, and petechiae (eFigure 13–18). [accessmedicine.mhmedical.com]
FDA approves Promacta to treat pediatric patients with chronic immune thrombocytopenic purpura The U.S. [news-medical.net]
Acquired amegakaryocytic thrombocytopenic purpura (AATP) is a rare hematological disorder characterized by severe thrombocytopenia and a complete or near-to complete absence of megakaryocytes in the bone marrow, while granulopoiesis, as well as erythropoiesis [ncbi.nlm.nih.gov]
This means a persistent hematocrit of 26% or less and reticulocyte (recently produced red blood cell) count of 4% or greater, or purpura (bleeding under the skin) and thrombocytopenia (reduced platelet count) of 40,000 platelets/cu.mm. or less despite [disabilitysecrets.com]
Bleeding and bruising due to lack of platelets – purpura (small bruises in the skin), nosebleeds, bleeding gums, vision problems (bleeding in the retina). Severe bleeding is not common but requires urgent treatment. [leukaemiacare.org.uk]
Ears
- Tinnitus
Other symptoms may include a waxy pallor to the skin and mucous membranes, bleeding gums, a lack of energy during exercise, and tinnitus (ringing in the ears). Premenopausal women may have an increased menstrual flow and duration. [medbroadcast.com]
Face, Head & Neck
- Epistaxis
Although the GI bleed could be explained by portal hypertension and gastropathy, the epistaxis was likely due to a bleeding diathesis secondary to thrombocytopenia. [jscisociety.com]
Some of the types of bleeding seen in people with lthrombocytopenia include epistaxis, bleeding gums, bloodied stool and red spots in the skin. In women, it may lead to heavy menstrual bleeding. Skin rashes and nausea are other common symptoms. [symptoma.com]
Aplastic anemia may present with the following signs and symptoms: Fatigue Dyspnea on exertion Easy bruising and bleeding (for example, epistaxis, gum bleeding, heavy menses, subconjunctival hemorrhages, melena, etcetera.) [cancertherapyadvisor.com]
Neurologic
- Headache
Share on Pinterest Headaches, dizziness, and fatigue are common symptoms of aplastic anemia. When a person has aplastic anemia, their bone marrow does not create the blood cells it needs. [medicalnewstoday.com]
Headaches or breathing problems that occur after exercise. Infections that keep returning or are more severe than usual. Frequent nosebleeds or bleeding under the skin. Causes of aplastic anemia can include: Exposure to poisonous (toxic) chemicals. [stanfordhealthcare.org]
This leads to anaemia, which can cause fatigue, headaches and concentration problems – alongside more serious issues. [anthonynolan.org]
Symptoms of chronic aplastic anemia include weakness and fatigue in the early stages, followed by shortness of breath, headache, fever, and pounding heart. [britannica.com]
A brain tumor may cause headaches and seizures as well as many other nervous system problems. Breast cancer occurs when abnormal cells grow out of control in the breast. [northwell.edu]
- Difficulty Concentrating
Symptoms of systemic mastocytosis include allergic skin reactions, difficulty concentrating and diarrhea. Doctors diagnose systemic mastocytosis by taking a small tissue sample called a biopsy. [ohsu.edu]
Workup
In diagnosing aplastic anemia, the main procedures carried out include complete blood count, reticulocyte count and bone marrow tests [8]. However, other tests can also be used to improve diagnosis. These include [9]:
- Liver tests and viral studies (EBV, CMV, hepatitis A, hepatitis B, hepatitis C, HIV, parvovirus B19) to confirm the absence of liver diseases and viruses.
- X-ray, CT scans and ultrasound imaging tests to show any enlarged lymph nodes in the abdomen.
- Iron, vitamin B12 and folate levels in the blood to rule out any forms of anemia.
- Flow cytometric analysis of GPI-anchored proteins
- Coagulation parameters: Quick value, PTT, fibrinogen
- Hemolysis parameters
- Kidney parameters
- Electrophoresis, immunoglobulins
- Blood glucose
- C-reactive protein (CRP)
- Antinuclear antibodies
The sonographic examination and radiograph of the thorax, HLA typing, as well as electrocardiography (ECG) complete the medical workup.
Serum
- Leukopenia
Symptoms result from anemia, thrombocytopenia (petechiae, bleeding), or leukopenia (infections). Diagnosis requires demonstration of peripheral pancytopenia and a bone marrow biopsy revealing a hypocellular marrow. [merckmanuals.com]
The bone marrow failure leads to too few red blood cells (anemia—see also Overview of Anemia), too few white blood cells (leukopenia), and too few platelets (thrombocytopenia). [msdmanuals.com]
- Neutropenia
May present with sequelae of neutropenia (infections), anaemia (fatigue, pallor, dyspnoea, tachycardia), or thrombocytopenia (bleeding, bruising). Laboratory findings may include leukopenia, neutropenia, anaemia, and thrombocytopenia. [bestpractice.bmj.com]
Soon after that, she was admitted with severe neutropenia, which progressed to pancytopenia confirmed as aplastic anemia on a bone marrow biopsy. [ncbi.nlm.nih.gov]
Examples include: Fanconi Anemia PNH (Paroxysmal Nocturnal Hemoglobinuria) Dyskeratosis Congenita Congenital Neutropenia (Kostmann Syndrome) Pure Red Cell Aplasia (Blackfan-Diamond Syndrome) Amegakaryocytic thrombocytopenia Schwachman-Diamond Syndrome [seattlecca.org]
Anemia leads to symptoms of weakness and fatigue, neutropenia causes vulnerability to bacterial or fungal infections, and thrombocytopenia results in mucosal and skin bleeding. [accessmedicine.mhmedical.com]
- Monocytopenia
The decrease in hematopoiesis results in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. [accessmedicine.mhmedical.com]
Monocytopenia can be present and imposes the differential diagnosis of hairy cell leukemia. [nature.com]
Patients commonly have B-cell, dendritic cell, natural killer cell, and monocytopenias, and are predisposed to myelodysplastic syndrome, acute myeloid leukemia, and chronic myelomonocytic leukemia. [cancerindex.org]
- Lymphocytosis
[…] hypogamma None None Steroids Death Sepsis Mir et al. [18] 68 M GS2+ aplastic anemia Simultaneous Na Hypoplasia Hypogamma and lymphopenia Na None Na Death Na Kristiansen et al. [19] 61 M GS2, pancytopenia 3 years after the onset of thymoma Na Hypoplasia + T lymphocytosis [hindawi.com]
During the work out process, a number of diseases should be considered in the differential diagnosis, namely: hypoplastic myelodysplastic syndromes (MDS), hypoplastic AML and ALL, large granular lymphocytosis, paroxysmal nocturnal hemoglobinuria (PNH) [nature.com]
- Normocytic Anemia
[…] bleeding: Increased menstrual flow, mucosal hemorrhage Petechia on the skin Testing to Confirm Diagnosis, according to Marsch (2009) Complete blood count (CBC) and peripheral smear Normocytic anemia Decreased reticulocytes Definitive diagnosis with bone [oncofertility.northwestern.edu]
[ Barone, 2015 ] Lab Tests useful in the Emergency Department: CBC with Differential Usually shows normochromic, normocytic anemia In early stages, only one or two cell lines may be effected (usually thrombocytopenia). [ Barone, 2015 ] Reticulocyte Count [pedemmorsels.com]
Treatment
In people with mild to moderate cases of aplastic anemia, there may not be need for treatment unless the condition deteriorates. In those with proven severe cases of aplastic anemia, medical treatment is needed to prevent any types of complications.
Severe cases of aplastic anemia are treated in emergency units in the hospital as these cases can quickly become fatal if left untreated for long.
The most common treatment path for severe cases is blood transfusion and stem cell transplant [10].
Prognosis
This condition is a rare disorder but it is usually serious [6]. Its course of development may either be slow or sudden but the disorder always gets worse over a period of time when the etiologic factors are left untreated.
With the right type of care (may involve blood transfusion, stem cell transplants and use of medicines), people with the condition can be treated completely.
Etiology
Damage to the bone marrow is the main cause of aplastic anemia [3]. Impairment to the stem cells makes them unable to grow into healthy blood cells. The cause of the stem cell defacing can either be acquired or inherited.
Acquired cases of aplastic anemia are most common and in many cases they are temporary. Inherited cases of aplastic anemia are relatively uncommon. In majority of aplastic anemia cases, the cause of the condition remains unknown. Some research explains that stem cell damage often occurs because the immune system’s non-deliberate attack on its own cells.
Acquired aplastic anemia can be caused by exposure to toxins (arsenic, benzene, pesticides), exposure to radiation or chemotherapy, use of antibiotics (chloramphenicol), infectious diseases (HIV, cytomegalovirus, Epstein-Barr virus, hepatitis, parvovirus) and autoimmune disorders (rheumatoid arthritis and lupus erythematodes).
Pregnancy has been noted in some cases as the etiologic factor for aplastic anemia but aplastic anemia as a result of pregnancy often resolves after delivery. Again, cancer from other parts of the body that spreads to the bone can bring about aplastic anemia.
Epidemiology
Aplastic anemia is rare so the annual incidence is placed at about 2 cases for every one million [4]. The condition has a regional predilection as it is seen 2 to 3 more times in Asia than in the West.
Acquired aplastic anemia is seen mostly in people within the ages of 15 and 25 years but the condition is also common at old age with the next highest peak seen in people aged 60 and above.
Pathophysiology
The pathophysiology of this condition is unclear but it is believed to be an immune mediated disease [5]. A variety of cellular and molecular pathways involving both the target and effector cells are involved in the process. The effector cells are the T cells and the target cells are hematopoietic stem and progenitor cells.
Prevention
Most of the time there is no prevention for aplastic anemia but to lower risk of the disease even further, it is advisable to avoid insecticides, herbicides and all other toxic chemicals.
Summary
Aplastic anemia is a disease where the stem cells of the bone marrow are damaged [1]. This makes the body lose its ability to produce erythrocytes and leukocytes. The production of platelets is also affected. The disease is also known as bone marrow failure.
The condition is one of several types of anaemia. An anemia is a condition that develops when the blood has a far reduced number of red blood cells. It is also seen when there is a reduced amount of hemoglobin in the blood.
The stem cells can get damaged by a variety of factors including diseases or conditions. The causes may be inherited or acquired.
However in majority of cases, the cause of aplastic anemia is unknown [2].
Patient Information
Aplastic anemia is a condition seen when the body is not producing the right amount of new blood cells. Patients are left fatigued and highly vulnerable to many kinds of infections as well as excessive and uncontrollable bleeding.
This condition is often serious and can develop at any stage. The progression is erratic so it may occur suddenly or gradually.
Treatment for the condition includes medications, blood transfusions and stem cell transplant depending on the severity of the condition.
References
- Wu Y, Yu J, Zhang L, Luo Q, Xiao JW, Liu XM, et al. [Hematopoiesis support of mesenchymal stem cells in children with aplastic anemia]. Zhongguo Dang Dai Er Ke Za Zhi. Aug 2008;10(4):455-9.
- Scopes J, Daly S, Atkinson R, Ball SE, Gordon-Smith EC, Gibson FM. Aplastic anemia: evidence for dysfunctional bone marrow progenitor cells and the corrective effect of granulocyte colony-stimulating factor in vitro. Blood. Apr 15 1996;87(8):3179-85.
- Young NS. Pathophysiologic mechanisms in acquired aplastic anemia. Hematology Am Soc Hematol Educ Program. 2006;72-7.
- Liu H, Mihara K, Kimura A, Tanaka K, Kamada N. Induction of apoptosis in CD34+ cells by sera from patients with aplastic anemia. Hiroshima J Med Sci. Jun 1999;48(2):57-63.
- Marsh JC. Long-term bone marrow cultures in aplastic anaemia. Eur J Haematol Suppl. 1996;60:75-9.
- Young NS. Acquired aplastic anemia. Ann Intern Med 2002; 136:534.
- Wallerstein RO, Condit PK, Kasper CK, et al. Statewide study of chloramphenicol therapy and fatal aplastic anemia. JAMA 1969; 208:2045.
- Marsh JC, Ball SE, Cavenagh J, et al. Guidelines for the diagnosis and management of aplastic anaemia. Br J Haematol 2009; 147:43.
- Scheinberg P, Young NS. How I treat acquired aplastic anemia. Blood 2012; 120:1185.
- Rovó A, Tichelli A, Dufour C, SAA-WP EBMT. Diagnosis of acquired aplastic anemia. Bone Marrow Transplant 2013; 48:162.