STEP 1 FIRST AID RAPID REVIEW EXAM FULLY SOLVED
& UPDATED 2025-2026 | FROM QUESTION TO
PERFECTION| STUDY WITH CONFIDENCE!
Abdominal pain, ascites, hepatomegaly Answer: Budd-Chiari Syndrome (post hepatic venous
thrombosis). Associated with Polycythemia vera.
Achilles tendon Xanthoma Answer: Familial Hypercholesterolemia (absent/defective LDL
receptors)
May have MI before age 20
Autosomal dominant
Adrenal hemorrhage, hypotension, DIC Answer: Waterhouse-Friedrichsen syndrome (Neisseria
meningitidis)
Anaphylaxis and/or angioedema following blood transfusion Answer: IgA deficiency; C1
inhibitor deficiency would only cause angioedema, not anaphylaxis
Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible
joints, pectus excavatum Answer: Marfan Syndrome (FBN1 gene mutation
chromosome 15 leads to defective fibrillin)
Autosomal Dominant
Athlete with polycythemia Answer: Secondary to EPO injection
Back pain, fever, night sweats Answer: Pott disease (vertebral TB)
Bilateral acoustic schwannomas Answer: Neurofibromatosis type 2
S-100+, cerebellopontine angle
Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D),
interstitial fibrosis, erythema nodosum, elevated CD4:CD8 ratio on lavage; asteroid bodies
Answer: Sarcoidosis (non-caseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis Answer: Mucor or Rhizopus fungal
infection
Travels through cribiform plate vessels
Blue sclera Answer: Osteogenesis Imperfecta (Type I collagen defect forming triple helix)
Blue due to exposure of choroidal veins
Bluish line on gingiva and basophilic stippling Answer: Burton line (lead poisoning)
Basophilic stippling (rRNA remnants)
APPHIA – Crafted with Care and Precision for Academic Excellence.
1
, Constipation, anemia, CNS impairment
Bone pain, bone enlargement (hat size or hearing loss), arthritis Answer: Paget disease of bone
(Increased osteoclastic, then osteoblastic activity)
Osteosarcoma or heart failure
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing Answer: Aortic
Regurgitation
"Butterfly" facial rash or discoid rash and Raynaud phenomenon in a young female Answer:
Systemic lupus erythematosus
Type III Hypersensitivity (antigen-antibody complexes deposit) with glomerulonephritis
Type II hypersensitivity with autoimmune hemolysis
Carcinoma spread Answer: Lymphatics to lymph nodes (except HCC, Renal cell, follicular
thyroid and choriocarcinoma which spread hematogenously)
Sarcoma spread Answer: Hematogenously
Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas Answer:
Neurofibromatosis Type I, pheochromocytoma, optic gliomas
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple
endocrine abnormalities Answer: McCune-Albright syndrome (mosaicism, G-protein signaling
mutation)
Calf pseudohypertrophy Answer: Muscular dystrophy (Duchenne, due to X-linked frameshift >
truncated dystrophin)
Dilated cardiomyopathy
High CK
Cervical lymphadenopathy, desquamating rash on palms and soles, coronary aneurysms, red
conjuctivae, and strawberry tongue Answer: Kawasaki disease (treat with IVIG and aspirin
which inhibits TXA2)
"Cherry-red spots" on macula Answer: Tay-Sachs (ganglioside accumulation - NO
hepatosplenomegaly)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion Answer: Angina (stable: with moderate exertion, cellular swelling
indicates reversibility, atherosclerosis; unstable: with minimal exertion or at rest, partial
occlusion)
APPHIA – Crafted with Care and Precision for Academic Excellence.
2
& UPDATED 2025-2026 | FROM QUESTION TO
PERFECTION| STUDY WITH CONFIDENCE!
Abdominal pain, ascites, hepatomegaly Answer: Budd-Chiari Syndrome (post hepatic venous
thrombosis). Associated with Polycythemia vera.
Achilles tendon Xanthoma Answer: Familial Hypercholesterolemia (absent/defective LDL
receptors)
May have MI before age 20
Autosomal dominant
Adrenal hemorrhage, hypotension, DIC Answer: Waterhouse-Friedrichsen syndrome (Neisseria
meningitidis)
Anaphylaxis and/or angioedema following blood transfusion Answer: IgA deficiency; C1
inhibitor deficiency would only cause angioedema, not anaphylaxis
Arachnodactyly (spider fingers), lens dislocation, aortic dissection or aneurysm, hyperflexible
joints, pectus excavatum Answer: Marfan Syndrome (FBN1 gene mutation
chromosome 15 leads to defective fibrillin)
Autosomal Dominant
Athlete with polycythemia Answer: Secondary to EPO injection
Back pain, fever, night sweats Answer: Pott disease (vertebral TB)
Bilateral acoustic schwannomas Answer: Neurofibromatosis type 2
S-100+, cerebellopontine angle
Bilateral hilar adenopathy, uveitis, high ACE, hypercalcemia (activated macrophages for Vit D),
interstitial fibrosis, erythema nodosum, elevated CD4:CD8 ratio on lavage; asteroid bodies
Answer: Sarcoidosis (non-caseating granulomas)
Black eschar on face of patient with diabetic ketoacidosis Answer: Mucor or Rhizopus fungal
infection
Travels through cribiform plate vessels
Blue sclera Answer: Osteogenesis Imperfecta (Type I collagen defect forming triple helix)
Blue due to exposure of choroidal veins
Bluish line on gingiva and basophilic stippling Answer: Burton line (lead poisoning)
Basophilic stippling (rRNA remnants)
APPHIA – Crafted with Care and Precision for Academic Excellence.
1
, Constipation, anemia, CNS impairment
Bone pain, bone enlargement (hat size or hearing loss), arthritis Answer: Paget disease of bone
(Increased osteoclastic, then osteoblastic activity)
Osteosarcoma or heart failure
Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing Answer: Aortic
Regurgitation
"Butterfly" facial rash or discoid rash and Raynaud phenomenon in a young female Answer:
Systemic lupus erythematosus
Type III Hypersensitivity (antigen-antibody complexes deposit) with glomerulonephritis
Type II hypersensitivity with autoimmune hemolysis
Carcinoma spread Answer: Lymphatics to lymph nodes (except HCC, Renal cell, follicular
thyroid and choriocarcinoma which spread hematogenously)
Sarcoma spread Answer: Hematogenously
Cafe-au-lait spots, Lisch nodules (iris hemartoma), cutaneous neurofibromas Answer:
Neurofibromatosis Type I, pheochromocytoma, optic gliomas
Cafe-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple
endocrine abnormalities Answer: McCune-Albright syndrome (mosaicism, G-protein signaling
mutation)
Calf pseudohypertrophy Answer: Muscular dystrophy (Duchenne, due to X-linked frameshift >
truncated dystrophin)
Dilated cardiomyopathy
High CK
Cervical lymphadenopathy, desquamating rash on palms and soles, coronary aneurysms, red
conjuctivae, and strawberry tongue Answer: Kawasaki disease (treat with IVIG and aspirin
which inhibits TXA2)
"Cherry-red spots" on macula Answer: Tay-Sachs (ganglioside accumulation - NO
hepatosplenomegaly)
Niemann-Pick (sphingomyelin accumulation)
Central retinal artery occlusion
Chest pain on exertion Answer: Angina (stable: with moderate exertion, cellular swelling
indicates reversibility, atherosclerosis; unstable: with minimal exertion or at rest, partial
occlusion)
APPHIA – Crafted with Care and Precision for Academic Excellence.
2
