Comprehensive Symptom Navigator

Vitamin D Deficiency

Specialty: Senior Health and Geriatrics

Category: Chronic Diseases and Multimorbidity

Sub-category: Metabolic and Endocrine Disorders

Symptoms:
fatigue; bone pain; muscle weakness; frequent infections; depression; hair loss

Root Cause:
Insufficient levels of vitamin D in the body, leading to poor calcium absorption, bone weakness, and muscle problems.

How it's Diagnosed: videos
Blood test measuring levels of 25-hydroxyvitamin D.

Treatment:
Vitamin D supplementation, increased sun exposure, and dietary changes (foods rich in vitamin D like fatty fish, fortified foods, etc.).

Medications:
Vitamin D3 (cholecalciferol ) supplements, either orally or through injections in severe cases.

Prevalence: How common the health condition is within a specific population.
Affects about 30-50% of the global population, with higher rates in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, limited sun exposure, dark skin, obesity, certain medications, and poor dietary intake.

Prognosis: The expected outcome or course of the condition over time.
Timely diagnosis reduces the risk of fractures, falls, and associated complications, while also enhancing bone health, muscle strength, and overall quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis. Increased risk of fractures. Muscle weakness. Falls. Impaired immune function. Potential cardiovascular and cognitive issues.

Sickle Cell Disease

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
episodes of pain (vaso-occlusive crisis); fatigue; swelling in hands and feet; frequent infections; delayed growth and puberty; yellowish skin or eyes (jaundice); shortness of breath

Root Cause:
Caused by a genetic mutation leading to abnormal hemoglobin (HbS), which results in red blood cells that are rigid and shaped like a crescent (sickle), leading to blockages in blood flow and reduced oxygen delivery to tissues.

How it's Diagnosed: videos
Newborn screening with hemoglobin electrophoresis; confirmatory testing includes Hb electrophoresis or DNA analysis; CBC may show anemia; peripheral blood smear reveals sickle-shaped cells.

Treatment:
Pain management, blood transfusions, hydroxyurea (to increase fetal hemoglobin), and bone marrow transplant in severe cases. Preventative care includes vaccination, prophylactic antibiotics (e.g., penicillin), and folic acid supplementation.

Medications:
Hydroxyurea (antimetabolite) reduces the frequency of sickle cell crises and increases fetal hemoglobin. Pain medications (e.g., NSAIDs, opioids) are used during crises. Prophylactic penicillin is given to prevent infections in children.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 365 African-American births in the U.S.; globally, more common in regions like sub-Saharan Africa, the Middle East, and India.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Having two copies of the sickle cell gene (autosomal recessive inheritance); family history of the condition.

Prognosis: The expected outcome or course of the condition over time.
Chronic and lifelong condition; life expectancy has improved with advances in treatment, but complications can reduce quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, acute chest syndrome, infections, organ damage, leg ulcers, gallstones, and severe anemia.

Leukemia (e.g., Acute Lymphoblastic Leukemia [ALL], Acute Myeloid Leukemia [AML])

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Oncologic Conditions

Symptoms:
fatigue; pallor; easy bruising or bleeding; frequent infections; bone or joint pain; fever; swollen lymph nodes; unexplained weight loss

Root Cause:
Abnormal proliferation of immature white blood cells in the bone marrow, leading to suppression of normal blood cell production.

How it's Diagnosed: videos
Blood tests (complete blood count, peripheral smear), bone marrow biopsy, cytogenetic analysis, flow cytometry, lumbar puncture (to assess central nervous system involvement).

Treatment:
Chemotherapy, targeted therapy, radiation therapy (in specific cases), stem cell transplant (for high-risk or relapsed cases).

Medications:
Commonly prescribed medications include chemotherapy agents such as vincristine (microtubule inhibitor), methotrexate (antimetabolite), cytarabine (antimetabolite), and daunorubicin (anthracycline). Targeted therapies, like tyrosine kinase inhibitors (e.g., imatinib for Philadelphia chromosome-positive ALL), may also be used.

Prevalence: How common the health condition is within a specific population.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, accounting for about 25-30% of pediatric cancers. AML is less common but still significant in children.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of leukemia, genetic disorders (e.g., Down syndrome, Li-Fraumeni syndrome), prior exposure to radiation or chemotherapy, and certain environmental exposures.

Prognosis: The expected outcome or course of the condition over time.
Prognosis varies by subtype; 5-year survival rates for ALL exceed 85% in children with appropriate treatment, whereas survival for AML is lower but improving with advancements in therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Complications include anemia, infections, bleeding disorders, relapse, and late effects of chemotherapy (e.g., cardiotoxicity, neurocognitive decline, secondary malignancies).

Myelodysplastic Syndromes

Specialty: Senior Health and Geriatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
fatigue; frequent infections; unexplained bruising or bleeding; pale skin; shortness of breath; weakness

Root Cause:
A group of disorders caused by poorly formed or dysfunctional blood cells in the bone marrow. There is a problem with the maturation of blood cells, leading to ineffective blood cell production.

How it's Diagnosed: videos
Blood tests (CBC, peripheral blood smear), bone marrow biopsy, cytogenetic analysis.

Treatment:
Supportive care (e.g., blood transfusions), chemotherapy, stem cell transplant (in some cases), and medications to stimulate bone marrow production (e.g., lenalidomide, growth factors).

Medications:
Medications include growth factors like erythropoietin and granulocyte-colony stimulating factor (G-CSF) to stimulate blood cell production, immunosuppressive agents (e.g., antithymocyte globulin ), and chemotherapy drugs for more aggressive cases.

Prevalence: How common the health condition is within a specific population.
MDS is more common in older adults, with an incidence of 4 to 5 cases per 100,000 people annually. The risk increases with age.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age (most cases occur in people aged 60 and older), previous chemotherapy or radiation treatments, exposure to chemicals (e.g., benzene), genetic mutations.

Prognosis: The expected outcome or course of the condition over time.
The prognosis varies depending on the type of MDS and response to treatment. Some forms are relatively indolent, while others may progress to acute myeloid leukemia (AML).

Complications: Additional problems or conditions that may arise as a result of the original condition.
Development of acute leukemia, severe infections, bleeding complications, anemia requiring repeated transfusions.

Immunodeficiency due to HIV/AIDS

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Secondary Immunodeficiency Disorders

Symptoms:
persistent fatigue; frequent infections; weight loss; swollen lymph nodes; night sweats; fever; opportunistic infections like pneumocystis pneumonia or kaposi's sarcoma

Root Cause:
HIV infects and destroys CD4+ T cells, leading to a weakened immune system and vulnerability to infections and cancers.

How it's Diagnosed: videos
HIV antibody/antigen tests; CD4+ T cell count; Viral load testing; AIDS diagnosis based on specific opportunistic infections or CD4 count below 200 cells/mm³

Treatment:
Array

Medications:
Antiretroviral therapy (ART), prophylactic antibiotics (e.g., Trimethoprim-Sulfamethoxazole), and vaccines as appropriate.

Prevalence: How common the health condition is within a specific population.
Approximately 39 million people living with HIV globally as of 2022.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Unprotected sexual activity; IV drug use; Mother-to-child transmission; Contaminated blood transfusions

Prognosis: The expected outcome or course of the condition over time.
With ART, individuals can lead near-normal life spans; untreated HIV progresses to AIDS, leading to high mortality.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Opportunistic infections; Cancers (e.g., Kaposi's sarcoma); Neurological disorders; Wasting syndrome

Immunodeficiency from Chemotherapy or Immunosuppressive Therapy

Specialty: Allergies and Immunology

Category: Immunologic Disorders

Sub-category: Secondary Immunodeficiency Disorders

Symptoms:
frequent infections; fevers; slow wound healing; mouth sores; low energy

Root Cause:
Chemotherapy or immunosuppressive drugs suppress bone marrow and reduce immune cell production.

How it's Diagnosed: videos
CBC to monitor white blood cell count; Immunoglobulin levels; Clinical history of recurrent infections

Treatment:
Array

Medications:
Colony-stimulating factors (e.g., Filgrastim ), prophylactic antimicrobials, and immunoglobulin replacement if necessary.

Prevalence: How common the health condition is within a specific population.
Affects most individuals undergoing intensive chemotherapy or organ transplant recipients on immunosuppressive drugs.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Type and duration of treatment; older age; malnutrition; coexisting conditions like diabetes

Prognosis: The expected outcome or course of the condition over time.
Generally reversible after stopping immunosuppressive therapy; longer recovery if bone marrow is severely affected.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Sepsis; severe infections; delayed recovery of immune function

Kidney Involvement in Multiple Myeloma (Myeloma Kidney)

Specialty: Nephrology

Category: Hematologic-Related Kidney Conditions

Symptoms:
fatigue; swelling in legs; decreased urine output; bone pain; frequent infections; nausea and vomiting

Root Cause:
Deposition of light chains in the kidney tubules due to excessive production by malignant plasma cells, leading to tubular obstruction and renal damage.

How it's Diagnosed: videos
Blood tests (serum protein electrophoresis, serum free light chains), urine tests (Bence-Jones protein), kidney biopsy, and imaging (X-rays, MRI, or PET scans for bone lesions).

Treatment:
Management of multiple myeloma with chemotherapy, stem cell transplantation, and supportive measures for kidney function, such as avoiding nephrotoxic drugs and adequate hydration.

Medications:
Medications include bortezomib (proteasome inhibitor), lenalidomide (immunomodulatory drug), and dexamethasone (corticosteroid). These are classified as targeted therapies and supportive treatments.

Prevalence: How common the health condition is within a specific population.
Kidney involvement occurs in approximately 20-50% of multiple myeloma cases.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Multiple myeloma diagnosis, advanced age, male sex, African-American ethnicity.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the stage of multiple myeloma and kidney function at the time of diagnosis; early intervention improves outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, electrolyte imbalances, anemia, and an increased risk of infections.

Acute Lymphoblastic Leukemia (ALL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; fever; frequent infections; unexplained bruising or bleeding; shortness of breath; bone or joint pain; swollen lymph nodes; pale skin; unintended weight loss

Root Cause:
Rapid proliferation of immature lymphoblasts in the bone marrow, crowding out normal blood cells.

How it's Diagnosed: videos
Blood tests (CBC showing high white blood cell counts, low red blood cells and platelets), bone marrow biopsy, flow cytometry, cytogenetic analysis, and imaging studies.

Treatment:
Chemotherapy, targeted therapy, stem cell transplantation, and supportive care (e.g., blood transfusions, antibiotics).

Medications:
Medications commonly prescribed include vincristine (vinca alkaloid), dexamethasone (corticosteroid), asparaginase (enzyme), and imatinib (tyrosine kinase inhibitor, if Philadelphia chromosome-positive ALL).

Prevalence: How common the health condition is within a specific population.
Most common childhood cancer, with approximately 3,000–5,000 cases annually in the United States; less common in adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic syndromes (e.g., Down syndrome), family history of leukemia, previous chemotherapy or radiation, and exposure to high doses of radiation.

Prognosis: The expected outcome or course of the condition over time.
High cure rates in children (5-year survival over 90%), lower in adults (35–50% 5-year survival); depends on age, subtype, and treatment response.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Infection, relapse, long-term side effects of chemotherapy (e.g., cardiotoxicity, neurotoxicity), and secondary malignancies.

Acute Myeloid Leukemia (AML)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; pale skin; shortness of breath; frequent infections; easy bruising or bleeding; bone or joint pain; swollen gums; unintended weight loss

Root Cause:
Uncontrolled proliferation of immature myeloid cells in the bone marrow, impairing normal blood cell production.

How it's Diagnosed: videos
Blood tests (CBC showing anemia, thrombocytopenia, and high/low WBC counts), bone marrow biopsy, cytogenetic and molecular testing, flow cytometry.

Treatment:
Intensive chemotherapy, targeted therapies, stem cell transplantation, and supportive care (e.g., transfusions, growth factors).

Medications:
Medications include cytarabine (antimetabolite), daunorubicin (anthracycline), and targeted agents like midostaurin (FLT3 inhibitor) or venetoclax (BCL-2 inhibitor).

Prevalence: How common the health condition is within a specific population.
Accounts for about 1% of adult cancers; incidence increases with age (median age at diagnosis ~68 years).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, prior chemotherapy/radiation, smoking, benzene exposure, and certain genetic disorders (e.g., Fanconi anemia).

Prognosis: The expected outcome or course of the condition over time.
Poorer in older adults; overall 5-year survival ~29%; better outcomes with favorable cytogenetics.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Relapse, infection, bleeding, organ damage, and treatment-related secondary cancers.

Chronic Lymphocytic Leukemia (CLL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
swollen lymph nodes; fatigue; frequent infections; fever; night sweats; unexplained weight loss; easy bruising or bleeding

Root Cause:
Accumulation of abnormal, mature-appearing but dysfunctional B-lymphocytes in the blood, bone marrow, and lymphoid tissues.

How it's Diagnosed: videos
Complete blood count (CBC), flow cytometry, bone marrow biopsy, genetic testing (FISH), and imaging studies.

Treatment:
Targeted therapy, chemotherapy, immunotherapy, and stem cell transplantation in advanced cases.

Medications:
Ibrutinib (BTK inhibitor)

Prevalence: How common the health condition is within a specific population.
Most common leukemia in adults in Western countries, typically diagnosed in individuals over 60 years old.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male gender, family history, exposure to certain chemicals (e.g., Agent Orange).

Prognosis: The expected outcome or course of the condition over time.
Variable; many cases are slow-progressing and managed without treatment for years. Advanced cases may require aggressive therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Infections, anemia, transformation to aggressive lymphoma (Richter's syndrome), and immune system dysfunction.

Hairy Cell Leukemia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; frequent infections; easy bruising or bleeding; enlarged spleen (splenomegaly); feeling of fullness in the abdomen; anemia; low white blood cell count (neutropenia); low platelet count (thrombocytopenia)

Root Cause:
A rare type of blood cancer where abnormal B lymphocytes (white blood cells) accumulate in the bone marrow, spleen, and blood, leading to compromised immune function and bone marrow failure.

How it's Diagnosed: videos
Blood tests (CBC with differential, peripheral blood smear), flow cytometry, bone marrow biopsy, and immunophenotyping (CD103, CD25 markers).

Treatment:
Chemotherapy (purine analogs like cladribine), targeted therapy, and in some cases, immunotherapy or splenectomy.

Medications:
Cladribine and pentostatin (purine analogs); rituximab (anti-CD20 monoclonal antibody); vemurafenib (BRAF inhibitor for BRAF-mutated cases). These medications fall into categories such as chemotherapy agents, monoclonal antibodies, and targeted inhibitors.

Prevalence: How common the health condition is within a specific population.
Affects approximately 6,000–7,000 people in the U.S., with an incidence of 0.3 cases per 100,000 annually; more common in middle-aged and older men.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Male gender, age 40–60, exposure to certain chemicals (e.g., pesticides), and genetic mutations like BRAF V600E.

Prognosis: The expected outcome or course of the condition over time.
Excellent with appropriate treatment, with long-term remission in most cases after therapy; relapses can occur but are usually manageable.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Persistent neutropenia, recurrent infections, secondary cancers, splenic rupture, and autoimmune phenomena.

Plasma Cell Myeloma

Specialty: Oncology

Category: Hematologic (Blood) Cancers

Sub-category: Multiple Myeloma

Symptoms:
bone pain, especially in the back, ribs, or hips; fatigue and weakness; anemia; frequent infections; unexplained weight loss; nausea or vomiting; hypercalcemia (high calcium levels) leading to confusion or constipation; kidney dysfunction or failure

Root Cause:
Plasma cell myeloma is a cancer of plasma cells, which are white blood cells responsible for producing antibodies. The malignant plasma cells accumulate in the bone marrow and crowd out healthy blood cells, leading to problems with bone structure, immune function, and organ systems like the kidneys.

How it's Diagnosed: videos
Blood tests (including serum protein electrophoresis and free light chain assay). Urine tests (such as urine protein electrophoresis). Bone marrow biopsy. Imaging tests (X-rays, MRI, CT scans to detect bone lesions). PET scan for detecting active disease.

Treatment:
Chemotherapy (e.g., cyclophosphamide, melphalan). Targeted therapy (e.g., proteasome inhibitors like bortezomib). Immunotherapy (e.g., monoclonal antibodies like daratumumab). Stem cell transplant (autologous stem cell transplant). Radiation therapy for localized bone pain.

Medications:
Chemotherapy drugs - Melphalan (alkylating agent), Cyclophosphamide (alkylating agent). Proteasome inhibitors - Bortezomib (Velcade ), Carfilzomib (Kyprolis ). Immunomodulatory agents - Thalidomide , Lenalidomide (Revlimid ). Monoclonal antibodies - Daratumumab (Darzalex ). Steroids - Dexamethasone , Prednisone (for symptom management and to reduce inflammation).

Prevalence: How common the health condition is within a specific population.
Plasma cell myeloma accounts for about 10% of all hematologic malignancies. The incidence increases with age, with a median age at diagnosis of 69 years.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age (most common in individuals over 60 years). Male sex. African-American ethnicity. Family history of multiple myeloma. Exposure to radiation, certain chemicals, or pesticides. Obesity. History of monoclonal gammopathy of undetermined significance (MGUS).

Prognosis: The expected outcome or course of the condition over time.
Multiple myeloma is typically not curable, but with advances in treatment, survival rates have improved. Median survival is around 5-7 years, but this can vary greatly depending on the stage at diagnosis and response to treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Bone fractures and osteoporosis. Kidney failure. Infections due to weakened immune system. Hypercalcemia (can lead to kidney damage, confusion, and coma). Anemia and fatigue. Neurological symptoms (e.g., spinal cord compression).

Plasmacytomas

Specialty: Oncology

Category: Sarcomas

Sub-category: Rare Cancers

Symptoms:
bone pain; fatigue; unexplained weight loss; anemia; frequent infections; weakness; numbness or tingling in limbs

Root Cause:
Plasmacytomas are abnormal growths of plasma cells, a type of white blood cell that produces antibodies. These tumors can occur in bone (solitary plasmacytoma of bone) or soft tissue (extramedullary plasmacytoma). They may develop in isolation or as part of a more widespread condition like multiple myeloma.

How it's Diagnosed: videos
Diagnosis involves imaging techniques like X-rays, CT scans, or MRIs to detect bone lesions or soft tissue masses. Bone marrow biopsy and blood tests (such as serum protein electrophoresis for monoclonal proteins) are used to confirm the presence of abnormal plasma cells. A biopsy of the tumor is performed for histological diagnosis.

Treatment:
Treatment typically involves localized radiation therapy or surgical resection, depending on the tumor's location. In some cases, chemotherapy or stem cell transplantation may be used if the plasmacytoma is part of a more systemic disease like multiple myeloma. For extramedullary plasmacytomas, radiation is often the treatment of choice.

Medications:
Chemotherapy agents like melphalan (an alkylating agent) and cyclophosphamide (another alkylating agent) may be used for advanced disease or when plasmacytomas are associated with multiple myeloma. Additionally, corticosteroids like dexamethasone can be prescribed to reduce inflammation and manage symptoms.

Prevalence: How common the health condition is within a specific population.
Plasmacytomas are rare, with solitary plasmacytomas representing only about 3% of all plasma cell neoplasms. The incidence is estimated at 0.2-1 case per 100,000 people per year.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Risk factors include age (more common in older adults), a family history of plasma cell disorders, and conditions like multiple myeloma. Previous radiation therapy and certain infections (like HIV) may also increase risk.

Prognosis: The expected outcome or course of the condition over time.
The prognosis for solitary plasmacytoma is generally favorable, especially if it is diagnosed early and treated with surgery or radiation. The 5-year survival rate for localized plasmacytomas is around 80-90%. However, if plasmacytomas progress to multiple myeloma or involve multiple sites, the prognosis worsens significantly.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Complications can include bone fractures due to bone involvement, pain management issues, spinal cord compression if the tumor involves the spine, and recurrence of the plasmacytoma. If it transforms into multiple myeloma, the complications and prognosis worsen.

Neutropenia

Specialty: Hematology

Category: Blood Disorders

Symptoms:
frequent infections; fever; mouth sores; gingivitis; skin abscesses

Root Cause:
Low neutrophil count, often caused by bone marrow suppression, autoimmune disorders, infections, or medications.

How it's Diagnosed: videos
CBC with differential, evaluation of bone marrow function, and testing for infections or autoimmune markers.

Treatment:
Treatment of the underlying cause, granulocyte colony-stimulating factor (G-CSF), and prophylactic antibiotics for severe cases.

Medications:
G-CSF (e.g., filgrastim to stimulate neutrophil production), prophylactic antibiotics (e.g., ciprofloxacin ), and antifungals (e.g., fluconazole ).

Prevalence: How common the health condition is within a specific population.
Common as a complication of chemotherapy or certain infections; varies widely based on underlying cause.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chemotherapy, autoimmune diseases, congenital conditions, viral infections.

Prognosis: The expected outcome or course of the condition over time.
Depends on severity and cause; reversible in many cases but may lead to severe infections if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening infections, sepsis, organ damage from uncontrolled infection.

Splenomegaly

Specialty: Hematology

Category: Lymphatic and Hematologic Disorders

Symptoms:
abdominal pain or fullness; fatigue; anemia; easy bruising; frequent infections

Root Cause:
Enlargement of the spleen due to infections, hematologic disorders, liver disease, or malignancies.

How it's Diagnosed: videos
Physical examination, imaging studies (e.g., ultrasound, CT), and blood tests to identify the underlying cause.

Treatment:
Treatment of the underlying condition; splenectomy in severe or refractory cases.

Medications:
Antibiotics for infections, chemotherapeutic agents for hematologic malignancies, and immunosuppressants for autoimmune causes.

Prevalence: How common the health condition is within a specific population.
Common in conditions like malaria, chronic liver disease, or hematologic malignancies.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic infections, hematologic malignancies, autoimmune disorders, liver disease.

Prognosis: The expected outcome or course of the condition over time.
Depends on the underlying cause; generally improves with appropriate treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Rupture, hypersplenism (leading to cytopenias), increased susceptibility to infections.

Multiple Myeloma

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
bone pain; fatigue; frequent infections; anemia; hypercalcemia; renal impairment; pathological fractures

Root Cause:
Malignant proliferation of plasma cells in the bone marrow producing large amounts of monoclonal protein, leading to bone damage, immunosuppression, and organ dysfunction.

How it's Diagnosed: videos
Diagnosed via serum and urine electrophoresis (identifying M protein), bone marrow biopsy, imaging (e.g., X-rays, CT, or MRI), and evidence of end-organ damage (CRAB criteria).

Treatment:
Combination of chemotherapy, targeted therapy, immunotherapy, and autologous stem cell transplant.

Medications:
Commonly prescribed are bortezomib (proteasome inhibitor), lenalidomide (immunomodulator), dexamethasone (corticosteroid), and daratumumab (monoclonal antibody). Bisphosphonates like zoledronic acid are used to reduce bone complications.

Prevalence: How common the health condition is within a specific population.
Affects 4–5 per 100,000 people annually, more common in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, African-American ethnicity, family history, and MGUS.

Prognosis: The expected outcome or course of the condition over time.
Improved with modern therapies but still considered incurable; median survival varies from 5–10 years depending on stage and response to treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bone pain, fractures, kidney failure, hypercalcemia, anemia, and susceptibility to infections.

Aplastic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; shortness of breath; frequent infections; unexplained or easy bruising; prolonged bleeding from cuts; pale skin; dizziness; headache; rapid or irregular heartbeat

Root Cause:
A rare condition in which the bone marrow fails to produce sufficient red blood cells, white blood cells, and platelets. Causes include autoimmune damage, exposure to toxic chemicals, certain medications, radiation, viral infections, or inherited conditions.

How it's Diagnosed: videos
Blood tests showing pancytopenia (low levels of all blood cells) and reticulocytopenia (low reticulocyte count). Bone marrow biopsy confirms hypocellular (empty) or fatty bone marrow.

Treatment:
Treatment depends on severity. Mild cases may involve supportive care, while severe cases often require immunosuppressive therapy, hematopoietic stem cell transplantation (bone marrow transplant), or blood transfusions.

Medications:
Immunosuppressants (e.g., antithymocyte globulin [ATG], cyclosporine , corticosteroids), hematopoietic growth factors (e.g., filgrastim or sargramostim ), androgens (e.g., danazol ) in certain cases, and antibiotics or antifungals to prevent or treat infections.

Prevalence: How common the health condition is within a specific population.
Rare, affecting approximately 1-2 individuals per million people annually worldwide, with higher incidence in Asia.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Exposure to toxic chemicals (e.g., benzene), radiation or chemotherapy, certain medications (e.g., chloramphenicol), viral infections (e.g., hepatitis, Epstein-Barr virus), autoimmune diseases, and genetic predisposition (e.g., Fanconi anemia).

Prognosis: The expected outcome or course of the condition over time.
With treatment, prognosis varies. Bone marrow transplantation offers a potential cure for eligible patients. Immunosuppressive therapy is effective for many, though relapses can occur. Without treatment, severe aplastic anemia is often fatal.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening infections, severe bleeding, iron overload from repeated transfusions, progression to myelodysplastic syndrome or leukemia, and organ damage from iron overload.

Bone Marrow Failure

Specialty: Hematology

Category: Bone Marrow and Stem Cell Disorders

Sub-category: Aplastic Anemia

Symptoms:
fatigue; easy bruising; frequent infections; shortness of breath; pallor; unexplained bleeding; slow wound healing

Root Cause:
Dysfunction or destruction of hematopoietic stem cells leading to insufficient production of blood cells (red, white, and platelets).

How it's Diagnosed: videos
CBC with low blood counts across all cell lines, bone marrow biopsy, and cytogenetic testing.

Treatment:
Immunosuppressive therapy (e.g., antithymocyte globulin and cyclosporine), bone marrow transplant, growth factors (e.g., erythropoietin), and transfusions.

Medications:
Immunosuppressants like cyclosporine , antithymocyte globulin , and corticosteroids. Growth factors include filgrastim (G-CSF).

Prevalence: How common the health condition is within a specific population.
Rare; incidence is approximately 2–3 cases per million people annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases, chemotherapy, radiation exposure, viral infections (e.g., hepatitis), and toxic chemical exposure.

Prognosis: The expected outcome or course of the condition over time.
Varies; treatable with transplant in younger patients, but chronic cases may require ongoing care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Risk of infections, bleeding, secondary cancers, and transfusion-related iron overload.

Myelophthisic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; pallor; weakness; shortness of breath; easy bruising; frequent infections; bone pain in some cases

Root Cause:
Bone marrow failure caused by infiltration of abnormal cells or substances (e.g., cancer cells, fibrosis, granulomas), displacing normal hematopoietic tissue.

How it's Diagnosed: videos
Blood smear showing immature blood cells (leukoerythroblastosis), anemia, and abnormal red cell shapes. Bone marrow biopsy confirms marrow infiltration.

Treatment:
Treatment depends on the underlying cause (e.g., chemotherapy for cancer, corticosteroids for fibrosis, or infection management). Supportive measures include transfusions.

Medications:
Specific to the underlying cause (e.g., chemotherapy for malignancies, corticosteroids for granulomatous diseases). Erythropoietin-stimulating agents to support red blood cell production in some cases.

Prevalence: How common the health condition is within a specific population.
Rare, primarily associated with malignancies (e.g., metastatic cancer, leukemia, lymphoma) or chronic infections (e.g., tuberculosis).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
malignancies; chronic granulomatous infections; fibrotic disorders; radiation exposure; certain genetic predispositions

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying condition. Early diagnosis and treatment of the causative factor can improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
severe anemia; organ failure due to infiltration; increased susceptibility to infections; bleeding disorders

Sickle Cell Disease (SCD)

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
chronic anemia; pain crises; fatigue; swelling in hands and feet; delayed growth; frequent infections; jaundice; vision problems

Root Cause:
Genetic mutation in the HBB gene causes production of abnormal hemoglobin (HbS), leading to red blood cells that sickle under low oxygen conditions, resulting in hemolysis and vascular occlusion.

How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing, blood smear showing sickled cells, and complete blood count (CBC).

Treatment:
Hydroxyurea to reduce pain crises and transfusion frequency, blood transfusions, stem cell transplant (potential cure in select cases), and supportive care.

Medications:
Hydroxyurea (increases fetal hemoglobin production), L-glutamine (reduces oxidative stress), voxelotor (inhibits HbS polymerization), and crizanlizumab (reduces vaso-occlusive crises).

Prevalence: How common the health condition is within a specific population.
Affects millions globally, particularly individuals of African, Mediterranean, Middle Eastern, and Indian descent. In the U.S., it affects approximately 1 in 365 African-American births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of SCD, being a carrier (sickle cell trait) with a partner who is also a carrier.

Prognosis: The expected outcome or course of the condition over time.
With modern treatments, life expectancy has improved, but complications may limit quality of life. Stem cell transplant offers a potential cure in select cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, acute chest syndrome, organ damage (kidney, liver, spleen), chronic pain, and increased risk of infections.

Erythroleukemia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; weakness; paleness; easy bruising; bleeding; frequent infections; shortness of breath; bone pain

Root Cause:
Malignant transformation of immature red and white blood cells in the bone marrow, leading to ineffective hematopoiesis.

How it's Diagnosed: videos
Bone marrow biopsy, complete blood count (CBC) showing anemia and blast cells, flow cytometry, and cytogenetic analysis.

Treatment:
Chemotherapy (e.g., induction and consolidation), targeted therapy, supportive care (e.g., blood transfusions), and allogeneic stem cell transplantation for eligible patients.

Medications:
Cytarabine (an antimetabolite), anthracyclines (e.g., daunorubicin ), and hypomethylating agents (e.g., azacitidine or decitabine ) may be used in treatment regimens.

Prevalence: How common the health condition is within a specific population.
Rare, accounting for less than 5% of acute myeloid leukemia (AML) cases.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, prior exposure to chemotherapy or radiation, and genetic predispositions.

Prognosis: The expected outcome or course of the condition over time.
Poor prognosis; 5-year survival rates are low and depend on response to treatment and patient factors.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Pancytopenia, infections, hemorrhage, and disease relapse.

Myelodysplastic Syndrome (MDS)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; shortness of breath; frequent infections; easy bruising or bleeding; pale skin (anemia)

Root Cause:
Ineffective blood cell production in the bone marrow, leading to low counts of red cells, white cells, and platelets. Often caused by acquired genetic mutations.

How it's Diagnosed: videos
Bone marrow biopsy, cytogenetic analysis, and blood tests (CBC with peripheral smear).

Treatment:
Supportive care (transfusions, growth factors), chemotherapy, targeted therapy, or stem cell transplantation.

Medications:
Azacitidine and decitabine (DNA hypomethylating agents); lenalidomide (immunomodulator for del(5q) cases); erythropoiesis-stimulating agents (ESAs). These include epigenetic drugs, immunomodulators, and growth factors.

Prevalence: How common the health condition is within a specific population.
Affects approximately 10,000–12,000 people annually in the U.S., primarily older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, prior chemotherapy/radiation, exposure to toxins (e.g., benzene), and genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Variable; median survival ranges from months to years depending on risk group (low vs. high).

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progression to acute myeloid leukemia (AML), infections, and bleeding complications.

Sickle cell disease (HBB gene mutation)

Specialty: Genetics

Category: Single-Gene Disorders (Mendelian Inheritance)

Sub-category: Autosomal Recessive Disorders

Symptoms:
anemia; pain episodes (sickle cell crises); swelling in hands and feet; frequent infections; delayed growth; vision problems

Root Cause:
Mutations in the HBB gene cause abnormal hemoglobin (HbS), leading to red blood cells becoming sickle-shaped and prone to clumping.

How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing for HBB mutations, newborn screening.

Treatment:
Blood transfusions, bone marrow transplant, pain management, and prevention of infections.

Medications:
Hydroxyurea (stimulates fetal hemoglobin production), L-glutamine (reduces oxidative stress), crizanlizumab (reduces pain crises), voxelotor (improves hemoglobin levels).

Prevalence: How common the health condition is within a specific population.
Approximately 300,000 births annually worldwide; more common in individuals of African, Mediterranean, Middle Eastern, and Indian ancestry.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, being of African or Mediterranean descent.

Prognosis: The expected outcome or course of the condition over time.
Variable; with proper treatment, many patients live into their 40s or 50s, though complications may arise.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, organ damage, acute chest syndrome, infections, leg ulcers.

Sickle cell disease

Specialty: Genetics

Category: Immune and Hematologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
chronic anemia; pain crises; swelling in hands and feet; frequent infections; vision problems

Root Cause:
Mutation in the HBB gene leads to production of abnormal hemoglobin S, causing red blood cells to deform into a sickle shape and obstruct blood flow.

How it's Diagnosed: videos
Hemoglobin electrophoresis, blood smear, and genetic testing.

Treatment:
Pain management, hydroxyurea (to reduce sickling), blood transfusions, and bone marrow transplant in severe cases.

Medications:
Hydroxyurea (increases fetal hemoglobin levels), L-glutamine (reduces oxidative stress), voxelotor (improves hemoglobin function), crizanlizumab (reduces vaso-occlusive crises).

Prevalence: How common the health condition is within a specific population.
Most common in African, Mediterranean, Middle Eastern, and Indian populations; affects approximately 1 in 365 African American births in the U.S.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, carrier status (sickle cell trait).

Prognosis: The expected outcome or course of the condition over time.
Varies with treatment; life expectancy has improved with modern care but complications can limit quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Acute chest syndrome, stroke, organ damage (kidney, spleen, liver), infections, and pulmonary hypertension.