Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly cerotic acid (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. For the childhood cerebral form, stem cell transplant and gene therapy are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic group. Signs and symptoms
ALD can present in different ways. The different presentations are complicated by the pattern of X-linked recessive inheritance. There have been seven phenotypes described in males with ABCD1 mutations and five in females. Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional instability, hyperactivity and disruptive behavior at school. Older patients affected with the cerebral form will present with similar symptoms. Untreated, cerebral ALD is characterized by progressive demyelination leading to a vegetative state and death. Adult males with an adrenomyeloneuropathy presentation typically present initially with muscle stiffness, paraparesis and sexual dysfunction. All patients with clinically recognized ALD phenotypes are at risk for adrenal insufficiency. There is no reliable way to predict which form of the disease an affected individual will develop, with multiple phenotypes being demonstrated within families. Onset of adrenal insufficiency is often the first symptom, appearing as early as two years of age.
in multiple sclerosis
Livedo reticularis associated with rasagiline
Methylphenidate and dextroamphetamine-induced peripheral vasculopathy
Gefitinib
Obstruction of capillaries:
Cryoglobulinaemia – proteins in the blood that clump together in cold conditions
Antiphospholipid syndrome due to small blood clots
Hypercalcaemia (raised blood calcium levels which may be deposited in the capillaries)
Haematological disorders of polycythaemia rubra vera or thrombocytosis (excessive red cells or platelets)
Infections (infective endocarditis, syphilis, tuberculosis, Lyme disease)
Associated with acute kidney injury due to cholesterol emboli status after cardiac catheterization
Arteriosclerosis (cholesterol emboli) and homocystinuria (due to Chromosome 21 autosomal recessive Cystathionine beta synthase deficiency)
Intra-arterial injection (especially in drug addicts)
Ehlers-Danlos syndrome – connective tissue disorder, often with many secondary conditions, may be present in all types
Pheochromocytoma
Livedoid vasculopathy and its association with factor V Leiden mutation
FILS syndrome (polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature)
Primary hyperoxaluria, oxalosis (oxalate vasculopathy)
Cytomegalovirus infection (very rare clinical form, presenting with persistent fever and livedo reticularis on the extremities and cutaneous necrotizing vasculitis of the toes)
Generalized livedo reticularis induced by silicone implants for soft tissue augmentation
As a rare skin finding in children with Down syndrome
Idiopathic livedo reticularis with polyclonal IgM hypergammopathy
CO2 angiography (rare, reported case)
A less common skin lesion of Churg–Strauss syndrome
Erythema nodosum-like cutaneous lesions of sarcoidosis showing livedoid changes in a patient with sarcoidosis and Sjögrens syndrome
Livedo vasculopathy associated with IgM antiphosphatidylserine-prothrombin complex antibody
Livedo vasculopathy associated with plasminogen activator inhibitor-1 promoter homozygosity and prothrombin G20210A heterozygosity
As a first sign of metastatic breast carcinoma (very rare)
Livedo reticularis associated with renal cell carcinoma (rare)
Buergers disease (as an initial symptom)
As a rare manifestation of Graves hyperthyroidism
Associated with pernicious anaemia
Moyamoya disease (a rare, chronic cerebrovascular occlusive disease of unknown cause, characterized by progressive stenosis of the arteries of the circle of Willis leading to an abnormal capillary network and resultant ischemic strokes or cerebral hemorrhages)
Associated with the use of a midline catheter
Familial primary cryofibrinogenemia.