Internal Medicine

0521779407-09 CUNY1086/Karliner 0 521 77940 7 June 4, 2007 21:12

Hemochromatosis Hemophilia A and B 673

■Abnormal skin pigmentation: occurs in up to 98% of symptomatic

patients; frequently improves with phlebotomy

■Diabetes mellitus: occurs in 30–60% of patients with advanced

disease; sometimes improves with phlebotomy

■Anterior pituitary dysfunction: deficiency in gonadotropin and pro-

lactin secretion in 50% of patients; rarely improves

■Arthropathy: reported in 20–70% with symptoms; rarely improves

with phlebotomy; pseudogout may occur and require nonsteroidal

anti-inflammatory drug therapy

■Cardiac: presenting manifestation in 5–15% with symptoms of CHF

most commonly seen; frequently improves with phlebotomy.

Prognosis

■Normal life span in noncirrhotic patients

■60% 10-year survival in cirrhotic patients

Hemophilia A and B..................................

KATHERINE A. HIGH, MD

history & physical

■Bleeding diathesis due to deficiency of factor VIII (hemophilia A) or

factor IX (hemophilia B)

■Disease occurs in all populations,∼1 in 5000 births. X-linked, males

are affected, women are carriers.

■Disease symptoms correlate with circulating levels of factor, <1%=

severe, 1–5% moderate, >5% mild

■Major morbidity of disease is spontaneous recurrent painful joint

and soft tissue bleeds; chronic arthropathy commonly results

■Bleeding into intracranial space can be rapidly fatal

■Patients do not bleed from minor cuts and abrasions. Platelet func-

tion is intact.

■2/3 cases occur in kindreds known to carry the disease; 1/3 in kin-

dreds not previously suspected.

■Male infants often diagnosed at circumcision.

tests

■Screening test- aPTT prolonged in both hemophilia A and B

■1:1 mix with normal plasma fully corrects aPTT in uncomplicated

hemophilia