From HPO
Abdominal pain- MedGen UID:
- 7803
- •Concept ID:
- C0000737
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Carotid artery stenosis- MedGen UID:
- 785
- •Concept ID:
- C0007282
- •
- Disease or Syndrome
Narrowing of the carotid arteries.
Coronary artery atherosclerosis- MedGen UID:
- 3623
- •Concept ID:
- C0010054
- •
- Disease or Syndrome
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Reticulocytosis- MedGen UID:
- 60089
- •Concept ID:
- C0206160
- •
- Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Giant platelets- MedGen UID:
- 137700
- •Concept ID:
- C0333864
- •
- Finding
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
Stomatocytosis- MedGen UID:
- 760280
- •Concept ID:
- C0677598
- •
- Laboratory or Test Result
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
Chronic hemolytic anemia- MedGen UID:
- 237230
- •Concept ID:
- C1387532
- •
- Disease or Syndrome
An chronic form of hemolytic anemia.
Abnormal bleeding- MedGen UID:
- 264316
- •Concept ID:
- C1458140
- •
- Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Impaired platelet aggregation- MedGen UID:
- 383786
- •Concept ID:
- C1855853
- •
- Finding
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Episodic hemolytic anemia- MedGen UID:
- 347161
- •Concept ID:
- C1859495
- •
- Disease or Syndrome
A form of hemolytic anemia that occurs in repeated episodes.
Arthritis- MedGen UID:
- 2043
- •Concept ID:
- C0003864
- •
- Disease or Syndrome
Inflammation of a joint.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Hypercholesterolemia- MedGen UID:
- 5687
- •Concept ID:
- C0020443
- •
- Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hyperlipidemia, familial combined, LPL related- MedGen UID:
- 6965
- •Concept ID:
- C0020474
- •
- Disease or Syndrome
Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018).
Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population.
Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia
Also see FCHL1 (602491), associated with variation in the USF1 gene (191523) on chromosome 1q23, and FCHL2 (604499), mapped to chromosome 11.
Increased circulating lactate dehydrogenase concentration- MedGen UID:
- 1377250
- •Concept ID:
- C4477095
- •
- Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Reduced haptoglobin level- MedGen UID:
- 1686017
- •Concept ID:
- C5209264
- •
- Finding
An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.
Elevated circulating sitosterol concentration- MedGen UID:
- 1789149
- •Concept ID:
- C5539528
- •
- Finding
An increased concentration of beta-sitosterol in the blood circulation.
Xanthelasma- MedGen UID:
- 56357
- •Concept ID:
- C0155210
- •
- Disease or Syndrome
The presence of xanthomata in the skin of the eyelid.
Tuberous xanthoma- MedGen UID:
- 86213
- •Concept ID:
- C0302164
- •
- Disease or Syndrome
A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
Arcus senilis- MedGen UID:
- 8179
- •Concept ID:
- C0003742
- •
- Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Constitutional symptom