Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:824 Primary myelofibrosis

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *

Splenomegaly HP:0001744

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Very frequent

Abnormality of bone marrow cell morphology HP:0005561

Frequent

Abnormal megakaryocyte morphology HP:0012143
Abnormality of blood and blood-forming tissues HP:0001871
Anemia HP:0001903
Constitutional symptom HP:0025142
Fatigue HP:0012378
Hepatomegaly HP:0002240
Hepatosplenomegaly HP:0001433
Pallor HP:0000980
Splenomegaly HP:0001744
Thrombocytopenia HP:0001873

Occasional

Abnormal bleeding HP:0001892
Abnormal thrombosis HP:0001977
Anorexia HP:0002039
Arterial thrombosis HP:0004420
Bone marrow hypercellularity HP:0031020
Easy fatigability HP:0003388
Ecchymosis HP:0031364
Extramedullary hematopoiesis HP:0001978
Fever HP:0001945
Flank pain HP:0030157
Leukocytosis HP:0001974
Low-grade fever HP:0011134
Lymphadenopathy HP:0002716
Pancytopenia HP:0001876
Petechiae HP:0000967
Poikilocytosis HP:0004447
Portal hypertension HP:0001409
Purpura HP:0000979
Thrombocytosis HP:0001894
Venous thrombosis HP:0004936

Rare

Cachexia HP:0004326
Hemangioma HP:0001028
Hematological neoplasm HP:0004377
Increased lactate dehydrogenase activity HP:0025435

Exclusion criterion *

Autoimmune antibody positivity HP:0030057

* Phenotypic abnormalities noted as « exclusion criterion » are those that are always absent in a particular disease and therefore exclude its diagnosis.

Additional information

Further information

Specialised Social Services

Eurordis directory

Warning

The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.