Metabolic disorders Flashcards
(104 cards)
Mild and asymptomatic (majority)
Bone pain aching, deep and worse at night initially
MCC: pelvis, vertebrae, femur, humerus, skull
Softening of bones → long bones proximally and advancing distally with bowed tibias, kyphosis, “chalk stick” fractures
Skull enlargement = headaches, increased hat size, damage to petrous temporal bone → cochlea → hearing loss, tinnitus, vertigo
paget disease
RF for paget disease
UK, Europe
>55
Genetic - autosomal dominant w/ incomplete penetrance
Precise cause unknown, maybe viral infection (measles) in bone cells
Associated with osteosarcoma
paget’s disease
PE: dilated scalp veins “scalp vein sign”, crepitus of the hip
LABS: elevated serum ALP, serum N-terminal propeptide of type 1 collagen, serum beta C-terminal propeptide of type 1 collagen
Elevated calcium (nonambulatory)
Serum 25-OH vitamin D
IMAGING:
initial lesions = osteolytic
Advanced = flame-shaped lytic lesions in long bones
– become sclerotic and have mixed lytic/sclerotic appearance with thickened and deformed bones
Technetium-99m pyrophosphate bone scan: find additional lesions
→ baseline should be obtained in all patients to document extent and locations
paget’s disease
XR = diagnostic with demonstration of characteristic changes at 1+ sites
“Cotton wool” appearance
paget’s disease
How do you treat paget’s disease?
Asymptomatic = clinical surveillance
Skull, long bones, or vertebrae involvement = bisphosphonates
Zoledronic acid IV
Calcium and vitamin D supplements
→ correct Vitamin D deficiency prior to treatment
High iron levels w/ no symptoms or:
Early: fatigue or arthralgia
Later: joint disease-symmetric arthropathy, hepatomegaly (cirrhosis), skin pigmentation (gray/brown), cardiac enlargement, DM (late-onset Type 1), erectile/gonadal dysfunction
Classic triad: cirrhosis, bronze skin, DM1
hemochromatosis
Autosomal recessive gene
>50 men
Worse w/ EtOH use, obesity, DM
RF for hemochromatosis
Iron overload and deposition disorder
Hemosiderosis = accumulation in tissue (liver, pancreas, heart, adrenals, testes, pituitary, kidneys)
High incidence of hepatocellular carcinoma + intrahepatic cholangiocarcinoma
hemochromatosis
Elevated plasma iron w/ transferrin sat > 45%, increased ferritin, iron
Low unsaturated iron binding capacity-UIBC
Mildly elevated AST and alk phosphatase
MRI/CT – show iron overload in liver
Liver biopsy
Ass w/ alpha fetoprotein (cancer)
hemochromatosis
Check for iron overload in patients w/:
-Chronic liver disease
-ED
-Chondrocalcinosis
-DM1, late onset
Consider genetic testing, liver biopsy, MRI if screening tests are high
hemochromatosis
How do you treat hemochromatosis?
Avoid intake - red meat, supplemental iron, etc
ETOH, Vitamin C, raw shellfish
Depletion of iron stores by phlebotomy - 2-3y of weekly phlebotomy
Done for symptomatic patients
OR men-serum ferritin OR high fasting iron saturation
Consider PPIs to lower maintenance phlebotomy need
Chelation w/ deferoxamine if pt has anemia w/ iron overload from Thalassemia and intolerant of phlebotomy
Adolescents = presents as liver disease
Young adults = presents as neuropsychiatric disease
Should be considered in any child or young adult with:
hepatitis, splenomegaly with hypersplenism, Coombs negative hemolytic anemia, portal HTN, neurologic or psychiatric abnormalities
anyone <40 with chronic hepatitis or acute liver failure
wilson’s disease
What are RFs for Wilson disease
3-55
Adolescent females
Young adult males
Autosomal recessive disorder - genetic defect on chromosome 13 (ATP7B)
MC: H1069Q variant
Excessive absorption of copper from small intestine + decreased excretion of copper by the liver → increased tissue deposition in liver, brain, cornea, kidney
Wilson disease
LABS: elevated liver enzymes, cirrhosis, portal HTN
Neuro signs = akinetic-rigid syndrome, pseudosclerosis with tremor, ataxia, dystonic syndrome, dysarthria, dysphagia, incoordination, spasticity, migraines, insomnia, seizure
Psych = behavioral/psychiatric changes, emotional lability, depression
Brown or gray-green Kayser-Fleischer ring
Wilson disease
DIAGNOSIS:
Increased urinary copper excretion (>40)
Low serum ceruloplasmin levels (<14)
Elevated hepatic copper concentration (>250)
Kayser-Fleischer rings
Liver biopsy
MRI of brain
wilson disease
How do you treat wilson disease
Restriction of dietary copper (shellfish, organ, nuts, mushrooms, chocolate)
Oral D-penicillamine - 1 hour before or 2 hours after food
Oral pyridoxine to refresh B6 stores
SE: GI intolerance, hypersensitivity, autoimmune reactions, nephrotoxicity, bone marrow toxicity
Trientine hydrochloride (less SE, but $) or trientine tetrahydrochloride
2nd line = oral zinc acetate or zinc gluconate for first line asymptomatic or pregnant patients, maintenance
normal BMI
18.5-24.9
overweight BMI
25-29.9
class 1 obesity
30-34.9
class 2 obesity
35-39.9
Class 3 obesity:
40+
What are RFs for obesity
Americans
Type 2 diabetes
HTN
HLD
Heart disease
Stroke
OSA