Focused medical history and physical examination
| . | Questions . | Supportive information . | Implications . |
|---|---|---|---|
| Presentation | Duration of symptoms | Prior CBC/diff | Inherited vs acquired |
| Bleeding | Platelet count, coagulation studies | Transfusion requirements | |
| Fatigue | Hemoglobin, pulse oximetry, CXR | Transfusion requirements | |
| S/Sx of infection | Fever, respiratory symptoms | Identify and treat infections | |
| Medical history | Adrenal hypoplasia | SAMD9 | |
| Ataxia | Brain MRI | SAMD9L | |
| Atypical infections | Immunologic testing, vaccination history | SDS, GATA2, STS, SAMD9/9L | |
| Birth history | Birth weight, gestational age, IUGR, anemia | DBA, FA, SAMD9/9L, SDS, STS | |
| Cancer or leukemia | Type of chemotherapy and toxicities | IBMFS, secondary MDS | |
| Congenital malformations | Echo, abdominal US, brain MRI, x-rays | FA | |
| GI (diarrhea, difficulty swallowing) | LFTs, abdominal US, endoscopy | aAA, SDS, STS, PNH | |
| Growth | Growth chart | FA | |
| Hearing loss | Audiogram | FA, GATA2 | |
| Nutrition (vegan, weight loss, supplements) | B12/MMA/HC, ceruloplasmin/copper | B12, folate, copper deficiency | |
| Pulmonary disease (TE fistula, fibrosis, pneumonia, alveolar proteinosis) | CXR, CT, PFTs, bronchoscopy | FA, GATA2, STS, SAMD9/9L | |
| Renal disease (congenital anomaly, dark urine) | Urinalysis, renal US | FA, PNH | |
| Skeletal dysplasia, skeletal abnormalities | X-rays | SDS, FA, DBA | |
| Family history | Ancestry | Founder mutations in certain populations | |
| Consanguinity | Autosomal recessive disorders | ||
| Full siblings | Potential marrow donors | ||
| Marrow failure, MDS, leukemia, cancer | IBMFS | ||
| Examination findings | Syndromic facies | IBMFS | |
| Microcephaly | STS, SAMD9/9L | ||
| Leukoplakia | STS | ||
| Hepatomegaly | SDS | ||
| Abnormal thumbs, radial abnormalities | FA | ||
| Nail dysplasia | STS | ||
| Lymphedema | GATA2 | ||
| Café-au-lait spots | FA | ||
| Reticulated pigmentation on neck | STS | ||
| Warts | GATA2 |
| . | Questions . | Supportive information . | Implications . |
|---|---|---|---|
| Presentation | Duration of symptoms | Prior CBC/diff | Inherited vs acquired |
| Bleeding | Platelet count, coagulation studies | Transfusion requirements | |
| Fatigue | Hemoglobin, pulse oximetry, CXR | Transfusion requirements | |
| S/Sx of infection | Fever, respiratory symptoms | Identify and treat infections | |
| Medical history | Adrenal hypoplasia | SAMD9 | |
| Ataxia | Brain MRI | SAMD9L | |
| Atypical infections | Immunologic testing, vaccination history | SDS, GATA2, STS, SAMD9/9L | |
| Birth history | Birth weight, gestational age, IUGR, anemia | DBA, FA, SAMD9/9L, SDS, STS | |
| Cancer or leukemia | Type of chemotherapy and toxicities | IBMFS, secondary MDS | |
| Congenital malformations | Echo, abdominal US, brain MRI, x-rays | FA | |
| GI (diarrhea, difficulty swallowing) | LFTs, abdominal US, endoscopy | aAA, SDS, STS, PNH | |
| Growth | Growth chart | FA | |
| Hearing loss | Audiogram | FA, GATA2 | |
| Nutrition (vegan, weight loss, supplements) | B12/MMA/HC, ceruloplasmin/copper | B12, folate, copper deficiency | |
| Pulmonary disease (TE fistula, fibrosis, pneumonia, alveolar proteinosis) | CXR, CT, PFTs, bronchoscopy | FA, GATA2, STS, SAMD9/9L | |
| Renal disease (congenital anomaly, dark urine) | Urinalysis, renal US | FA, PNH | |
| Skeletal dysplasia, skeletal abnormalities | X-rays | SDS, FA, DBA | |
| Family history | Ancestry | Founder mutations in certain populations | |
| Consanguinity | Autosomal recessive disorders | ||
| Full siblings | Potential marrow donors | ||
| Marrow failure, MDS, leukemia, cancer | IBMFS | ||
| Examination findings | Syndromic facies | IBMFS | |
| Microcephaly | STS, SAMD9/9L | ||
| Leukoplakia | STS | ||
| Hepatomegaly | SDS | ||
| Abnormal thumbs, radial abnormalities | FA | ||
| Nail dysplasia | STS | ||
| Lymphedema | GATA2 | ||
| Café-au-lait spots | FA | ||
| Reticulated pigmentation on neck | STS | ||
| Warts | GATA2 |
CBC/diff, complete blood count with differential; CT, computerized tomography; CXR, chest x-ray; GI, gastrointestinal; IUGR, intrauterine growth retardation; GATA2, GATA2 deficiency; HC, homocysteine; LFT, liver function testing; MMA, methylmalonic acid; magnetic resonance imaging; PFT, pulmonary function test; S/Sx, signs/symptoms; SAMD9/9L, SAMD9/SAMD9L disorders; TE, tracheoesophageal fistula; US, ultrasound.