Name of the Disease: Amyloidosis
Type of Disease:
Systemic or Localized Disorder, hereditary or acquired.
Description:
Amyloidosis is a group of disorders characterized by the deposition of amyloid (fibrillar protein misfolded) in various tissues and organs, leading to organ damage (according to the district in which it is deposited). There are several types, including AL (light chain), AA (associated with chronic inflammatory conditions), and ATTR (transthyretin-related). The accumulation of amyloid can lead to life-threatening complications.
Symptoms:
- Fatigue: Common due to organ dysfunction.
- Weight Loss: as a consequence of intestinal malabsorption and general deterioration.
- Swelling: Edema, particularly in the legs or around the eyes from kidney dysfunction.
- Nerve Pain or Damage: Peripheral neuropathy (sensitiv and/or motory) can occur if amyloid deposits affect nerves.
- Dyspnea: Resulting from cardiac (heart failure) or pulmonary involvement.
- Other Symptoms: changes in skin color, joint pain depending on organ involvement, orthostatic hypotension, macroglossia.
Current Treatments:
- Chemoimmunotherapy: For AL amyloidosis, regimens may include: DaraCyBorD (with or without ASCT), melphalan and dexamethasone to target amyloid-producing cells.
- Supportive Care: Managing symptoms related to affected organs, such as heart failure or nephrotic syndrome.
- Organ-Specific Treatments: Including diuretics for fluid retention or heart medications for cardiac involvement.
- Research and Clinical Trials: Ongoing studies to explore new therapies and approaches to amyloidosis management (as new monoclonal autoantibodies).
- Heart and hepathic transplant: rarely.
Name of the Disease: Aplastic Anemia
Type of Disease:
Bone Marrow Failure Disorder
Description:
Aplastic Anemia is a rare but serious blood disorder characterized by the bone marrow’s inability to produce sufficient amounts of blood cells (red blood cells, white blood cells, and platelets). It can be acquired (as consequence of multifactorial mechanisms, in particular autoimmune activation, toxin or therapy exposition) or inherited (as in different bone marrow failure like Fanconi anemia, Shwachman-Diamond syndrome and other). The result is pancytopenia, leading to a wide range of health complications. Immune system has a fundamental role in eziopathogenesis of AA and consequently on treatment.
Symptoms:
- Fatigue, pallor: Due to anemia.
- Increased Risk of Infections with fever: Due to low white blood cell count (neutropenia).
- Easy bruising and mucocutaneous bleeding: Related to low platelet counts (thrombocytopenia).
- Dizziness, shortness of breath or tachycardia: Due to reduced red blood cells and oxygen-carrying capacity.
Current Treatments:
- Treatment is age-related.:
- Bone Marrow Transplant: The most effective and preferred treatment in younger patients with a matching donor (preferentially a sibling donor).
- Immunosuppressive Therapy: Use of medications like antithymocyte globulin (ATG) and cyclosporine to suppress the immune system to allow the bone marrow recovery.
- Eltrombopag: it can be considered in association with immunosuppressive therapy.
- Consideration of Androgens or Other Agents: In some patients, androgens may be used to stimulate red blood cell production (more frequently in older patients).
- Supportive Care: Includes blood transfusions for severe anemia or low platelets, and antibiotics to treat infections.
- Granulocyte-colony stimulating factor (G-CSF) to stimulate white cell production.:
Name of the Disease: Autoimmune Idiopathic Thrombocytopenia (ITP)
Type of Disease:
Autoimmune Hematologic Disorder
Description:
Idiopathic Thrombocytopenic Purpura (ITP) or Idiopathic thrombocytopenia is a bleeding disorder characterized by a low platelet count (thrombocytopenia). It's characterized by an increased platelet destruction and a reduced platelet production. The causes aren't clear and the eziopathogenesis is multifactorial. The immune system plays a fundamental role on the recognition of platelet and the following destruction. ITP may occur in both children and adults, often following infections or occurring without any triggers. It can be defined chronic when one years has passed since the occurance.
Symptoms:
- Easy Bruising: Increased tendency to bruise easily due to low platelet counts.
- Petechiae: Small red or purple spots on the skin caused by bleeding underneath.
- Prolonged Bleeding: Increased bleeding time after cuts or during surgical procedures.
- Fatigue: Common due to the effects of chronic low platelet levels.
- Heavy Menstrual Bleeding: May occur in women due to low platelet levels.
- Other Symptoms: Rarely, gastrointestinal bleeding or bleeding in the brain may occur in severe cases.
Current Treatments:
- Steroids: First-line treatment. Corticosteroids (e.g., prednisone) to reduce immune system activity and increase platelet production.
- Immunoglobulin Therapy: Intravenous immunoglobulin (IVIG) can help a rapid raise of platelet counts (temporarily).
- Thrombopoietin Receptor Agonists: Medications like eltrombopag, romiplostim and avatrombopag can mimic the role of thrombopoietin stimulating the receptor and as a consequence the platelet production.
- Rituximab: monoclonal antibody anti-CD20 as immunomodulant.
- Fostamatinib: a regulatory of the production of autoantibody and the platelet destruction (mediated by macrophages.
- Splenectomy: Surgical removal of the spleen may be considered for chronic cases not responsive to other treatments.
- Supportive Care: Monitoring platelet levels, managing bleeding episodes, and lifestyle adjustments to reduce injury risk.
- Experimental Treatments: Emerging therapies, including biologics and targeted therapies, aim to modulate immune responses.
Name of the Disease: Autoimmune Hemolytic Anemia (AIHA)
Type of Disease:
Autoimmune Hematologic Disorder
Description:
Autoimmune Hemolytic Anemia (AIHA) is a condition where the immune system mistakenly attacks and destroys red blood cells, leading to hemolysis and resulting in anemia. AIHA can be classified into two main types: warm AIHA (where antibodies react at body temperature) and cold AIHA (where antibodies react at lower temperatures). The causes of AIHA are different like infections, medications, malignancies, or other autoimmune disorder.
Symptoms:
- Fatigue: Common due to reduced red blood cells and oxygen-carrying capacity.
- Pallor: Pale skin due to anemia.
- Jaundice: Yellowing of the skin and eyes due to the breakdown of red blood cells.
- Dark Urine: Due to hemoglobinuria following hemolysis.
- Signs of Bleeding: due to low platelet counts.
- Cold-Induced Symptoms: In cases of cold AIHA, affected individuals may experience symptoms like numbness or cyanosis in extremities when exposed to cold as consequence of agglutination mechanisms.
Current Treatments:
- Corticosteroids: Prednisone is commonly used to reduce the immune response and decrease hemolysis (on wAIHA).
- Immunosuppressive Therapy: Medications such as azathioprine or rituximab for refractory cases or to minimize steroid use.
- Rituximab: monoclonal antibody anti-CD20 as immunomodulant.
- Splenectomy: Surgical removal of the spleen may be considered in chronic cases as the spleen is involved in the destruction of red blood cells.
- Supportive Care: Including blood transfusions only in case of severe anemia and symptomatyc patients; as well as iron supplementation if iron deficiency occurs.
- Plasmapheresis: In severe cases, to remove antibodies from circula
- Other treatment: sutimlimab. Therapy to treat the cuase of Hemolytic anemia.
Name of the Disease: Congenital and Acquired Hypereosinophilia
Type of Disease:
Hematologic Disorder
Description:
Hypereosinophilia is a condition characterized by an elevated number of eosinophils (a type of white blood cell) in the blood. It can be classified as congenital (often linked to genetic mutations, such as in familial eosinophilia), primary (due to a clonal/neoplastic disorder) or acquired (associated with infections, allergies, autoimmune diseases, malignancies, or drug reactions). Persistent hypereosinophilia can lead to tissue damage and a range of clinical complications.
Symptoms:
- Skin Rash and itch: Eosinophilic dermatitis or other rashes associated with elevated eosinophils.
- Respiratory Symptoms: Asthma, wheezing, or chronic cough due to eosinophilic infiltration in the lungs.
- Diarrhea and Abdominal Pain: May occur if eosinophils accumulate in the gastrointestinal tract (eosinophilic gastroenteritis).
- Fatigue: Generalized weakness and fatigue can occur due to inflammation, anemia and tissue damage.
- Fever: Possibly due to associated infections or inflammatory processes.
- Other Symptoms: If severe, may involve cardiomyopathy, neurological issues, or eosinophilic infiltration in multiple organs.
Current Treatments:
- Corticosteroids: Such as prednisone, are commonly used to reduce eosinophil levels and inflammation.
- Interferon alpha, hydroxyurea:
- Immunosuppressive Therapy: In severe cases or when corticosteroids are not sufficient, agents such as azathioprine or methotrexate may be used.
- Tyrosine Kinase Inhibitors: Such as imatinib, if associated with certain blood cancers (e.g., hypereosinophilia due to myeloid neoplasms).
- Management of Underlying Conditions: Treating any associated infections, allergies, or malignancies effectively.
- Regular Monitoring: Follow-up blood tests to monitor eosinophil levels and assess treatment response.
- Supportive Care: Includes symptomatic treatment for any complications arising from hypereosinophilia.
Name of the Disease: Congenital Dyserythropoietic Anemia (CDA)
Type of Disease:
Genetic Hematologic Disorder
Description:
Congenital Dyserythropoietic Anemia is a rare inherited disorder characterized by ineffective erythropoiesis, which leads to anemia. This condition is caused by defects in erythroid cells within the bone marrow, resulting in abnormal red blood cell development. Patients may experience varying degrees of anemia, and there are several subtypes of CDA, each with distinct genetic causes and clinical features.
Symptoms:
- Anemia: Symptoms can range from mild to severe fatigue, weakness, and pallor.
- Splenomegaly: Enlarged spleen due to increased destruction of abnormal red blood cells.
- Jaundice: Yellowing of the skin and eyes due to increased breakdown of red blood cells.
- Delayed Growth: In children due to chronic anemia.
- Hypochromic Microcytic Anemia: Red blood cells may appear pale and small under the microscope.
- Other Symptoms: Possible presence of other associated hematological abnormalities.
Current Treatments:
- Blood Transfusions: To manage severe anemia and improve hemoglobin levels.
- Interpheron alpha, erythropoietin.:
- Iron Chelation Therapy: To prevent iron overload from frequent transfusions.
- Folic Acid Supplements: To support erythropoiesis.
- Splenectomy.:
- Bone Marrow or Stem Cell Transplant: Potentially curative option, especially for severe cases.
- Supportive Care: Monitoring and managing complications associated with the disease.
- Gene Therapy: Experimental treatments aimed at addressing the underlying genetic defects.
Name of the Disease: Congenital Hemophilia
Type of Disease:
Genetic Hematologic Disorder
Description:
Congenital Hemophilia is a hereditary bleeding disorder caused by deficiencies in specific clotting factors, mainly factor VIII (Hemophilia A) or factor IX (Hemophilia B). It results in prolonged bleeding after injury and spontaneous bleeding episodes. This condition is usually inherited in an X-linked recessive pattern, affecting predominantly males. The severity and frequence of episodes depends on the percentuage of factor (VIII or IX) present in the peripheral blood.
Symptoms:
- Excessive Bleeding: Prolonged bleeding after cuts or injuries.
- Spontaneous Bruising: Frequent unexplained bruises.
- Joint Pain and Swelling: Due to bleeding into joints (hemarthrosis).
- Blood in Urine or Stool: Indicating bleeding in the urinary tract or gastrointestinal tract.
Current Treatments:
- Factor Replacement Therapy: Infusions of the missing clotting factor (factor VIII or IX).
- Desmopressin (DDAVP): Used for mild Hemophilia A to stimulate factor VIII release.
- Antifibrinolytics: Medications like tranexamic acid to prevent bleeding.
- Gene Therapy: Emerging treatments aimed at providing a long-term solution for factor deficiency.
Name of the Disease: Acquired Hemophilia
Type of Disease:
Acquired Hematologic Disorder
Description:
Acquired Hemophilia is a rare condition that occurs when the immune system produces antibodies against clotting factors, most commonly factor VIII. It can develop in patients with autoimmune diseases, after childbirth, or in the presence of certain malignancies, leading to serious bleeding issues.
Symptoms:
- Unexpected Bleeding: Prolonged bleeding or easy bruising due to clotting factor inhibition.
- Skin Hematomas: Swelling or discoloration caused by bleeding under the skin.
- Intramuscular Bleeding: Major concern due to bleed risk into muscles.
- Joint Swelling: Similar to congenital hemophilia due to bleeding.
Current Treatments:
- Immunosuppressive Therapy: To reduce antibody production against the clotting factors.
- Factor Replacement Therapy: To manage bleeding episodes, depending on the factor affected.
- Plasmapheresis: In severe cases, to remove antibodies from the bloodstream.
- Supportive Care: Including blood transfusions, pain management, and physical therapy.
Name of the Disease: Congenital and Acquired Hemophagocytic Lymphohistiocytosis
Type of Disease:
Immune Dysregulation Disorder
Description:
Hemophagocytosis refers to a condition where histiocytes and lymphocites attack other blood cells (red blood cells, platelets, and white blood cells) leading to cytopenias (decreased blood cell counts). Congenital forms are often linked to genetic defects, such as Familial Hemophagocytic Lymphohistiocytosis; while acquired forms may occur secondary to infections, malignancies, autoimmune diseases, or other conditions. It manifests as an intense immune activation (increased activity of macrophages and lymphocites, riduced presence of NK cells) and inflammation.
Symptoms:
- Fever: Common due to systemic inflammation and immune activation.
- Splenomegaly: Enlarged spleen due to increased blood cell destruction and localization of pathologic cells in this site.
- Cytopenias: Decreased levels of red blood cells, white blood cells, and platelets.
- Fatigue and Weakness: Due to anemia or general illness.
- Other Symptoms: Such as jaundice, skin rash, or neurologic symptoms, depending on severity and underlying causes.
- Hemorrhagic Symptoms: Resulting from thrombocytopenia and fibrinogen reduction, such as bruising or bleeding.
Current Treatments:
- Supportive Care: Including blood transfusions for anemia or thrombocytopenia, and treatment of any underlying conditions.
- Immunosuppressive Therapy: Medications like corticosteroids to reduce inflammation and immune response.
- Etoposide: Chemotherapy used in cases associated with malignancies or to manage severe cases.
- Antiviral or Antibiotic Therapy: For acquired forms caused by infections.
- Bone Marrow Transplant: Considered in severe congenital forms or when there is no response to other treatments.
- Clinical Trials and Emerging Therapies: Ongoing research into genetic therapies and targeted treatments for HLH.
Name of the Disease: Congenital Hemochromatosis
Type of Disease:
Genetic Hematologic Disorder
Description:
Congenital Hemochromatosis is a rare inherited disorder characterized by excessive accumulation of iron in the body due to defects in iron metabolism. This condition often results from mutations in the HFE gene or related genes that lead to increased intestinal iron absorption and can cause organ damage over time. The severity and age of onset depends on the type of mutation.
Symptoms:
- Fatigue: Chronic tiredness due to iron overload and subsequent organ dysfunction.
- Joint Pain: Arthropathy, particularly in the hands, due to iron deposition.
- Abdominal Pain: Hepatomegaly (enlarged liver) may cause discomfort. In severe condition we may have cyrrhosis and hepatocarcinoma.
- Skin Changes: Hyperpigmentation (bronzing of the skin) from iron deposition.
- Endocrine Dysfunction: Symptoms such as diabetes mellitus (often referred to as "bronze diabetes") and thyroid issues.
- Cardiac complications: arhythmia, heart failure.
Current Treatments:
- Phlebotomy: Regular blood removal to decrease iron levels and prevent complications.
- Iron Chelation Therapy: In cases where phlebotomy is not effective or feasible, medications like deferasirox or deferoxamine may be used to bind excess iron.
- Lifestyle Modifications: Dietary changes to limit iron intake and alcohol consumption, along with regular monitoring of iron levels.
- Management of Complications: Including treatment for liver disease, diabetes, and heart problems resulting from iron overload.
- Regular Monitoring: Surveillance for liver cancer (hepatocellular carcinoma) due to the increased risk associated with chronic liver disease.
- Genetic Counseling: For affected individuals and families regarding inheritance patterns and implications for family members.
Name of the Disease: Congenital Immunodeficiencies
Type of Disease:
Genetic Immunodeficiency Disorders
Description:
Congenital immunodeficiencies are a group of inherited disorders that result in an impaired ability of the immune system to fight infections. These disorders can be caused by defects in various components of the immune system, including T cells, B cells, phagocytes, and complement. The severity and spectrum of symptoms vary widely among patients.
Symptoms:
- Recurrent Infections: Frequent and severe infections, particularly respiratory, gastrointestinal, or skin infections.
- Insufficient growth: In infants and children, inadequate growth and weight gain.
- Autoimmune Symptoms: Such as hemolytic anemia or thrombocytopenia in some conditions.
- Delayed or Poor Response to Vaccines: Indicating immune dysfunction.
- Chronic Diarrhea: Due to infections or malabsorption.
- Lymphoproliferative Disorders: The enlargement of lymph nodes or spleen in certain types of immunodeficiencies.
Current Treatments:
- Immunoglobulin Replacement Therapy: Intravenous or subcutaneous immunoglobulin infusions for patients with antibody deficiencies.
- Antibiotic Prophylaxis: Regular antibiotics to prevent infections in high-risk patients.
- Stem Cell Transplant: Considered for severe forms of immunodeficiency (e.g., severe combined immunodeficiency - SCID).
- Gene Therapy: Investigational therapies for certain genetic immunodeficiencies, particularly SCID and X-linked agammaglobulinemia.
- Supportive Care: Management of infections as they arise and optimization of nutrition and health.
- Vaccination: Careful planning of vaccinations, often avoiding live vaccines in patients with severe immunodeficiencies.
Name of the Disease: Other Congenital Coagulation Disorders
Type of Disease:
Genetic Hematologic Disorders
Description:
Other congenital coagulation disorders encompass a range of inherited bleeding disorders caused by deficiencies or dysfunction of various clotting factors beyond hemophilia. Some notable conditions include Von Willebrand Disease, Factor VII Deficiency, and Factor XI Deficiency. These disorders can lead to varying degrees of bleeding tendencies, depending on the specific factor involved and its severity.
Symptoms:
- Excessive Bleeding: Severity can range from mild to life-threatening, particularly during surgery or trauma.
- Easy Bruising: Frequent unexplained bruises.
- Nosebleeds: More frequent or prolonged than normal.
- Joint Swelling: May occur due to bleeding within joints, more typical in severe cases.
- Fatigue: As a result of chronic bleeding or anemia stemming from the disorder.
Current Treatments:
- Factor Replacement Therapy: Infusions of the specific missing clotting factor (e.g., factor VII, factor XI).
- Desmopressin (DDAVP): Particularly effective for Von Willebrand Disease to promote release of factor VIII.
- Antifibrinolytics: Such as tranexamic acid to help prevent bleeding episodes.
- Supportive Care: Including physical therapy to manage joint and muscle pain, and blood transfusions when necessary.
- Gene Therapy: Emerging treatment options aimed at addressing specific deficiencies.
Name of the Disease: Erythrocyte Enzyme Disorders
Type of Disease:
Hemolytic Anemias
Description:
Erythrocyte enzyme disorders refer to a group of conditions caused by deficiencies in specific enzymes within red blood cells that are essential for their metabolism and function. These deficiencies can lead to increased destruction of red blood cells (hemolysis), resulting in various types of anemia. Common disorders include G6PD deficiency, pyruvate kinase deficiency, and fructose-1,6-bisphosphate deficiency.
Symptoms:
- Hemolytic Anemia: Symptoms include fatigue, pallor, and shortness of breath due to decreased red blood cells.
- Jaundice: Yellowing of the skin and eyes due to increased bilirubin from hemolysis.
- Splenomegaly: Enlargement of the spleen due to increased breakdown of red blood cells.
- Dark Urine: Occurs due to hemoglobinuria following hemolysis in some conditions.
- Fatigue and Weakness: Resulting from anemia and inadequate oxygen-carrying capacity.
- Other Symptoms: Depending on the specific enzyme deficiency, additional symptoms may occur, such as skeletal abnormalities in pyruvate kinase deficiency.
Current Treatments:
- Avoidance of Triggers: For conditions like G6PD deficiency, avoiding certain medications, foods (e.g., fava beans), and infections that can induce hemolysis is crucial.
- Supportive Care: Blood transfusions may be required in cases of severe anemia.
- Folic Acid Supplementation: To support red blood cell production in cases of chronic hemolysis.
- Enzyme Replacement Therapy: Emerging treatments for certain enzyme deficiencies, although options may be limited.
- Clinical Management: Regular monitoring of blood counts and managing complications associated with the disorder.
- Genetic Counseling: Recommended for patients and families to understand inheritance patterns and implications.
Name of the Disease: Erythrocyte Membrane Defects
Type of Disease:
Hemolytic Anemias
Description:
Erythrocyte membrane defects are a group of inherited disorders characterized by abnormalities in the red blood cell membrane, which can lead to increased fragility of red blood cells and subsequent hemolysis. These defects can result from mutations in genes encoding membrane and cytoplasm proteins, affecting the cell's shape and stability. Examples include hereditary spherocytosis and hereditary elliptocytosis.
Symptoms:
- Hemolytic Anemia: Symptoms include fatigue, pallor, and shortness of breath due to the destruction of red blood cells.
- Jaundice: Yellowing of the skin and eyes due to the rapid breakdown of red blood cells and increased bilirubin.
- Splenomegaly: Enlarged spleen due to the sequestration and destruction of abnormal red blood cells.
- Dark Urine: Due to hemoglobinuria following hemolysis in some cases.
- Fatigue and Weakness: Resulting from anemia and the effects on oxygen-carrying capacity.
- Other Symptoms: Depending on severity and specific membrane defect, additional symptoms may include growth delays in children or episodes of pain crises in some patients.
Current Treatments:
- Management of Anemia: Including blood transfusions if severe anemia develops.
- Folic Acid Supplementation: To support erythropoiesis (red blood cell production).
- Splenectomy: Surgical removal of the spleen may be recommended for severe cases to reduce hemolysis and anemia.
- Supportive Care: Regular monitoring of blood counts and managing symptoms related to hemolysis.
- Avoidance of Triggering Factors: Such as infections or extreme physical exertion that may exacerbate hemolysis.
- Genetic Counseling: Recommended for affected individuals and families to understand inheritance patterns and implications
Name of the Disease: Gaucher Disease
Type of Disease:
Lysosomal Storage Disorder
Description:
Gaucher Disease is a genetic disorder caused by the deficiency of the enzyme glucocerebrosidase, leading to the accumulation of sphingolipids on the lysosomes of the reticuloendothelial system cells. This accumulation is localized mostly in spleen, liver and bone marrow. It is inherited in an autosomal recessive manner and can present in different forms, including non-neuronopathic (Type 1) and neuronopathic types (Type 2 and Type 3).
Symptoms:
- Enlargement of Organs: Splenomegaly and hepatomegaly due to the accumulation of Gaucher cells.
- Bone Pain: Osteopenia, osteoporosis, and pain due to anemia and Gaucher cell infiltration.
- Anemia and Thrombocytopenia: Resulting from bone marrow dysfunction.
- Fatigue: Due to anemia and the effects of organ enlargement.
- Growth Delays: In children with severe forms, including Type 1.
- Other Symptoms: Including pulmonary involvement, neurological symptoms in neuronopathic forms, and skin changes.
Current Treatments:
- Enzyme Replacement Therapy (ERT): Treatments such as imiglucerase, velaglucerase alfa, or taliglucerase alfa to replace the deficient enzyme.
- Substrate Reduction Therapy (SRT): Medications like eliglustat to reduce the production of glucocerebroside.
- Supportive Care: Including management of complications, pain control, and monitoring of blood counts.
- Potential for Bone Marrow or Stem Cell Transplant: Considered in severe cases, especially for neuronopathic forms.
- Physical Therapy: To help manage bone pain and improve mobility.
- Regular Monitoring: Ongoing assessment of enzyme levels, organ size, and symptoms to adjust treatment as necessary.
Name of the Disease: Mastocytosis
Type of Disease:
Hematologic Disorder
Description:
Mastocytosis is a condition characterized by an abnormal accumulation of mast cells in various tissues, particularly in skin and bone marrow. It can be classified as cutaneous mastocytosis (affecting the skin) or systemic mastocytosis (affecting multiple organ systems). Symptoms arise from the accumulation of mast cells and from the release of mediators by them, which can cause various systemic reactions.
Symptoms:
- Skin Manifestations: Urticaria pigmentosa, which appears as brownish or reddish lesions.
- Flushing: Sudden redness of the skin due to mast cell degranulation.
- Abdominal Symptoms: Nausea, vomiting, diarrhea due to gastrointestinal mast cell presence.
- Anaphylaxis: A severe life-threatening allergic reaction in some cases.
- Bone Pain: May occur if mast cells accumulate in the bones.
- Headache, confusion, dizziness, mood changes.:
- Other Symptoms: Fatigue, headache, and mood changes due to mast cell mediator release.
- Cytopenia or cytosis:
Current Treatments:
- Antihistamines and corticosteroids: Used to alleviate itching and other allergic symptoms related to mast cell activation.
- Mast Cell Stabilizers: Medications such as cromolyn sodium to help stabilize mast cells and reduce mediator release.
- Targeted Therapy: For advanced systemic mastocytosis, therapies like midostaurin, TKI inhibitors, avapritinib are used.
- Supportive Care: Management of symptoms and avoidance of known triggers.
- Monitoring and Follow-Up: Regular assessment of symptoms and possible progression of the disease.
Name of the Disease: Paroxysmal Nocturnal Hemoglobinuria (PNH)
Type of Disease:
Acquired Hematologic Disorder
Description:
Paroxysmal Nocturnal Hemoglobinuria is a rare, acquired blood disorder characterized by the destruction of red blood cells due to a mutation in the PIGA gene. This mutation leads to a deficiency in proteins that protect red blood cells from being destroyed by the immune system, resulting in hemolysis (breakdown of red blood cells) and hemoglobinuria (hemoglobin in the urine), particularly during the night or early morning. It can also be associated with aplastic anemia and other complications.
Symptoms:
- Dark Urine: Hemoglobinuria resulting in dark-colored urine, especially after waking up in the morning.
- Fatigue: Common due to anemia from hemolysis.
- Anemia: Symptoms may include weakness, pale skin, and shortness of breath.
- Thrombosis: Increased risk of blood clots in veins (thrombosis), which can cause complications.
- Dysphagia: Difficulty swallowing (less common) due to esophageal involvement.
- Abdominal Pain: May occur, often related to thrombosis or organ involvement.
Current Treatments:
- Eculizumab (Soliris): A complement inhibitor used to reduce hemolysis and improve hemoglobin levels in patients with PNH.
- Ravulizumab (Ultomiris): A longer-acting complement inhibitor approved for the treatment of PNH.
- Blood Transfusions: May be necessary to manage severe anemia.
- Bone Marrow Transplant: Considered in severe cases or for individuals with coexisting aplastic anemia.
- Supportive Care: Including monitoring for complications, managing symptoms, and addressing anemia.
- Anticoagulation: May be used in patients with a history of thrombosis or based on the quantity of PNH clone.
Name of the Disease: Porphyrias
Type of Disease:
Metabolic Disorders
Description:
Porphyrias are a group of genetic disorders caused by deficiencies in specific enzymes in the heme biosynthesis pathway, leading to the accumulation of porphyrins or their precursors. There are several types of porphyrias, which can be categorized as either acute or cutaneous porphyrias. Symptoms can vary greatly depending on the type and severity of the enzyme deficiency.
Symptoms:
- Abdominal Pain: Severe abdominal cramps can occur in acute porphyrias.
- Neurological Symptoms: Such as confusion, seizures, or muscle weakness in acute porphyrias.
- Skin Symptoms: In cutaneous porphyrias, patients may develop photosensitivity, resulting in blistering, swelling, and skin damage after sun exposure.
- Urinary Changes: Dark or red urine due to the presence of porphyrins, especially in acute porphyrias.
- Fatigue: Chronic fatigue may occur due to the effects of the disease on the liver and overall metabolism.
- Other Symptoms: Possible hypertension, tachycardia, and anxiety during acute episodes.
Current Treatments:
- Avoidance of Triggers: Educating patients on avoiding known triggers (e.g., certain drugs, alcohol, fasting, and sunlight) that can precipitate attacks.
- Hemin Infusions: For acute attacks, intravenous hemin (panhematin) can reduce porphyrin production.
- Beta-Carotene: May be used in some types of porphyria to help prevent skin damage.
- Supportive Care: Management of complications and symptomatic treatment during acute attacks.
- Treatment of Underlying Conditions: Addressing any contributing factors such as liver disease.
- Gene Therapy: Under investigation for potential future treatments, particularly for specific enzyme deficiencies.
Name of the Disease: Thalassemia
Type of Disease:
Genetic Hemoglobin Disorder
Description:
Thalassemia is an inherited blood disorder that affects the body's ability to produce hemoglobin, a protein in red blood cells responsible for carrying oxygen. It is categorized into two main types: Alpha Thalassemia and Beta Thalassemia; they differ from each other on the basis of the mutated globin chain; this mutation determines a reduced or absent production of tha chain. Thalassemia leads to anemia, causing symptoms due to reduced oxygen delivery to tissues, and it can also result in other complications such as iron overload and organ damage.
Symptoms:
- Fatigue: Common due to anemia and low oxygen levels.
- Pale Skin: Resulting from reduced red blood cell count.
- Jaundice: Yellowing of the skin and eyes due to bile buildup.
- Bone Deformities: Abnormal bone growth, especially in the face and skull due to increased marrow activity.
- Enlarged Spleen or Liver: Due to increased destruction of blood cells.
- Delayed Growth: In children, which may lead to late puberty.
- Frequent Infections: Increased risk, although less common, can be associated with chronic anemia.
- Endocrinopathies: caused by iron overload.
Current Treatments:
- Blood Transfusions: Regular transfusions are necessary to manage anemia.
- Iron Chelation Therapy: To remove excess iron from the body accumulated from transfusions.
- Folic Acid Supplements: To help produce new red blood cells.
- Bone Marrow or Stem Cell Transplant: Potentially curative option for severe cases.
- Gene Therapy: Emerging treatments aimed at correcting the genetic defect associated with thalassemia.
- Hydroxyurea: A medication that can increase fetal hemoglobin levels, improving symptoms for some patients.
- Supportive Care: Including pain management, nutritional support, and monitoring for complications.
Name of the Disease: Thrombotic Thrombocytopenic Purpura (TTP)
Type of Disease:
Microangiopathic Hemolytic Anemia
Description:
Thrombotic Thrombocytopenic Purpura (TTP) is a rare but life-threatening blood disorder characterized by the formation of small blood clots (thrombi) in small blood vessels throughout the body. This leads to a decrease in platelet count (thrombocytopenia), hemolytic anemia, and can cause organ damage due to reduced blood flow. TTP can be hereditary or acquired, and is associated with a deficiency of the enzyme ADAMTS13, which normally helps to regulate blood clotting. This deficiency can be caused by autoantibodies who act against ADAMTS13.
Symptoms:
- Thrombocytopenia: Low platelet count resulting in easy bruising and bleeding.
- Hemolytic Anemia: Fatigue, weakness, and pallor due to the breakdown of red blood cells.
- Neurological Symptoms: Confusion, seizures, headaches, coma due to decreased blood flow to the brain.
- Renal Symptoms: Decreased urine output and related kidney issues due to thrombi affecting renal circulation.
- Fever: May occur due to the underlying condition.
- Cardiologic symptoms: arhythmia, heart failure.
- Abdominal Symptoms: Abdominal pain can result from ischemia due to clot formation.
Current Treatments:
- Plasma Exchange Therapy (Plasmapheresis): The primary treatment, where the patient's plasma is removed and replaced with donor plasma to provide functional ADAMTS13 enzyme.
- Corticosteroids: Used to help reduce inflammation and suppress the immune response.
- Rituximab: A monoclonal antibody sometimes used for immune modulation in treatment-resistant cases.
- Supportive Care: Including managing complications, blood transfusions, and monitoring organ function.
- Consideration of Anticoagulation: Rarely, anticoagulants may be considered in complex cases under specialist guidance.
Name of the Disease: Sickle Cell Disease (SCD)
Type of Disease:
A hereditary blood disorder caused by mutations in the hemoglobin gene.
Description:
Sickle cell disease is a genetic condition that causes red blood cells to become misshapen and break down. The abnormal hemoglobin in these cells causes them to become rigid and form a sickle-like shape, leading to blockages in blood flow and a variety of health issues.
Symptoms:
- Anemia: Chronic anemia due to the rapid destruction of red blood cells.
- Pain Episodes: Periodic episodes of pain, known as pain crises, caused by blood vessel blockages.
- Swelling: Swelling of the hands and feet caused by blocked blood flow.
- Frequent Infections: Increased susceptibility to infections due to spleen damage.
- Delayed Growth: Slowed growth and delayed puberty in children.
- Vision Problems: Damage to the blood vessels in the eyes can cause vision issues.
Current Treatments:
- Medications: Hydroxyurea to reduce pain episodes and prevent complications.
- Blood Transfusions: Regular transfusions to treat severe anemia and prevent stroke.
- Bone Marrow Transplant: The only potential cure, usually limited to severe cases.
- Symptom Management: Pain relief, hydration, and oxygen therapy during crises.
- Preventive Care: Vaccinations and antibiotics to reduce infection risk.
Name of the Disease: Wilson's Disease
Type of Disease:
Genetic Hepatolenticular Disorder
Description:
Wilson's Disease is a genetic disorder that leads to excessive accumulation of copper in the body due to a defect in the ATP7B gene, this gene coding for a protein that is responsible of copper transport outside the liver. This buildup can result in liver disease, neurological symptoms, kidney disorders and psychiatric issues. The disease is autosomal recessive and typically presents in childhood or early adulthood.
Symptoms:
- Liver Symptoms: Hepatomegaly, liver dysfunction, and, in severe cases, liver failure.
- Neurological Symptoms: Tremors, dystonia, dysarthria, and changes in handwriting due to basal ganglia involvement.
- Psychiatric Symptoms: Mood swings, depression, anxiety, and personality changes are common in affected individuals.
- Corneal Deposits: Kayser-Fleischer rings can appear in the eyes and may cause visual disturbances.
- Fatigue: General tiredness and malaise related to liver dysfunction, copper toxicity and anemia.
- Other Symptoms: Jaundice, abdominal pain and swelling due to liver issues.
Current Treatments:
- Chelation Therapy: Medications such as penicillamine or trientine are used to remove excess copper from the body.
- Zinc Therapy: Zinc acetate can be used to prevent copper absorption from the diet by blocking intestinal absorption.
- Dietary Modifications: Low-copper diet, avoiding foods high in copper (e.g., shellfish, nuts, chocolate).
- Liver Transplant: Considered in cases of severe liver failure or advanced liver disease that is not responsive to medical therapy.
- Monitoring and Follow-Up: Regular monitoring of liver function tests, copper levels, and neurological assessments.
- Genetic Counseling: Suggested for family members of affected individuals to understand the genetic implications.
